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SYNE2 spectrin repeat containing nuclear envelope protein 2 [ Homo sapiens (human) ]

Gene ID: 23224, updated on 7-Apr-2024

Summary

Official Symbol
SYNE2provided by HGNC
Official Full Name
spectrin repeat containing nuclear envelope protein 2provided by HGNC
Primary source
HGNC:HGNC:17084
See related
Ensembl:ENSG00000054654 MIM:608442; AllianceGenome:HGNC:17084
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NUA; EDMD5; KASH2; Nesp2; TROPH; NUANCE; SYNE-2; Nesprin-2
Summary
The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in skin (RPKM 13.7), kidney (RPKM 12.6) and 25 other tissues See more
Orthologs
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Genomic context

Location:
14q23.2
Exon count:
125
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (63761596..64226449)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (57969282..58434164)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64319722..64693167)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8517 Neighboring gene RNA, U7 small nuclear 116 pseudogene Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8518 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene14 Neighboring gene ribosomal protein S28 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8521 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35084 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64357721-64358428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64360139-64360663 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35095 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64417577-64418140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64418141-64418703 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64503774-64504468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64526989-64527584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64540907-64541408 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:64581878-64582065 Neighboring gene microRNA 548h-1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64649031-64649892 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64652879-64653670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64663246-64663842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64691697-64692198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64692199-64692698 Neighboring gene uncharacterized LOC124903328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8525 Neighboring gene estrogen receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64805694-64806376 Neighboring gene testis expressed 21, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
MedGen: C2751805 OMIM: 612999 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of lung function decline in adults with and without asthma.
EBI GWAS Catalog
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ11014, FLJ43727, FLJ45710, FLJ46790, KIAA1011, DKFZp434H2235, DKFZp686H1931, DKFZp686E01115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables cytoskeleton-nuclear membrane anchor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in centrosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear migration along microfilament ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in lamellipodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of meiotic nuclear membrane microtubule tethering complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
located_in nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nesprin-2
Names
KASH domain-containing protein 2
nesprin 2
nuclear envelope spectrin repeat protein 2
nucleus and actin connecting element protein
polytrophin
spectrin repeat containing, nuclear envelope 2
synaptic nuclear envelope protein 2
synaptic nuclei expressed gene 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011756.2 RefSeqGene

    Range
    96106..469535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_872

mRNA and Protein(s)

  1. NM_015180.6NP_055995.4  nesprin-2 isoform 1

    See identical proteins and their annotated locations for NP_055995.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 5. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 5.
    Source sequence(s)
    AF435011, AF495911, AI685725, AL355094, DB271849
    Consensus CDS
    CCDS41963.1
    UniProtKB/Swiss-Prot
    B4DND7, B4DPR6, I6XXQ5, Q540G1, Q86YP9, Q8N1S3, Q8NF49, Q8TER7, Q8WWW3, Q8WWW4, Q8WWW5, Q8WXH0, Q8WXH1, Q9UFQ4, Q9Y2L4, Q9Y4R1
    UniProtKB/TrEMBL
    G3V5X4
    Related
    ENSP00000341781.4, ENST00000344113.8
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68546885
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_182910.2NP_878914.1  nesprin-2 isoform 2

    See identical proteins and their annotated locations for NP_878914.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (2) is shorter at the N-terminus compared to isoform 5.
    Source sequence(s)
    AI685725, AY184204
    UniProtKB/Swiss-Prot
    Q8WXH0
    Related
    ENST00000441438.2
    Conserved Domains (2) summary
    cd00176
    Location:84307
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam10541
    Location:398429
    KASH; Nuclear envelope localization domain
  3. NM_182913.4NP_878917.1  nesprin-2 isoform 4

    See identical proteins and their annotated locations for NP_878917.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (4) is shorter at the N-terminus compared to isoform 5.
    Source sequence(s)
    AI685725, AL355094, AY061758
    Consensus CDS
    CCDS45124.1
    UniProtKB/Swiss-Prot
    Q8WXH0
    Related
    ENSP00000391937.2, ENST00000458046.6
    Conserved Domains (2) summary
    cd00176
    Location:210433
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam10541
    Location:525556
    KASH; Nuclear envelope localization domain
  4. NM_182914.3NP_878918.2  nesprin-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
    Source sequence(s)
    AL162832, AL355094, AL359235
    Consensus CDS
    CCDS9761.2
    UniProtKB/TrEMBL
    G3V5X4
    Related
    ENSP00000450831.2, ENST00000555002.6
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68766907
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    63761596..64226449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431152.1XP_047287108.1  nesprin-2 isoform X1

  2. XM_011536576.3XP_011534878.1  nesprin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534878.1

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69056936
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  3. XM_047431149.1XP_047287105.1  nesprin-2 isoform X1

  4. XM_011536574.2XP_011534876.1  nesprin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534876.1

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69056936
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. XM_011536578.2XP_011534880.1  nesprin-2 isoform X2

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69046935
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  6. XM_011536579.2XP_011534881.1  nesprin-2 isoform X3

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68916922
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  7. XM_011536580.3XP_011534882.1  nesprin-2 isoform X6

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68906921
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  8. XM_005267454.2XP_005267511.1  nesprin-2 isoform X4

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68916922
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  9. XM_005267456.2XP_005267513.1  nesprin-2 isoform X5

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68906921
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  10. XM_005267457.2XP_005267514.1  nesprin-2 isoform X9

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68776908
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  11. XM_011536581.2XP_011534883.1  nesprin-2 isoform X7

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68826913
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  12. XM_047431153.1XP_047287109.1  nesprin-2 isoform X8

  13. XM_047431154.1XP_047287110.1  nesprin-2 isoform X11

  14. XM_047431156.1XP_047287112.1  nesprin-2 isoform X13

  15. XM_005267458.2XP_005267515.1  nesprin-2 isoform X10

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68686899
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  16. XM_047431155.1XP_047287111.1  nesprin-2 isoform X12

  17. XM_005267459.2XP_005267516.1  nesprin-2 isoform X15

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68536884
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  18. XM_011536582.2XP_011534884.1  nesprin-2 isoform X14

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682417
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:60986311
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:68666897
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51395345
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  19. XM_047431157.1XP_047287113.1  nesprin-2 isoform X16

  20. XM_047431158.1XP_047287114.1  nesprin-2 isoform X17

  21. XM_011536577.3XP_011534879.1  nesprin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534879.1

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69056936
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  22. XM_047431159.1XP_047287115.1  nesprin-2 isoform X18

  23. XM_011536584.3XP_011534886.1  nesprin-2 isoform X19

    Conserved Domains (5) summary
    COG1196
    Location:28733746
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    TIGR02168
    Location:18982639
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    cl02488
    Location:18402031
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  24. XM_047431151.1XP_047287107.1  nesprin-2 isoform X1

  25. XM_047431150.1XP_047287106.1  nesprin-2 isoform X1

  26. XM_011536575.3XP_011534877.1  nesprin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534877.1

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69056936
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  27. XM_017021101.2XP_016876590.1  nesprin-2 isoform X1

    UniProtKB/TrEMBL
    G3V5X4
    Conserved Domains (7) summary
    COG0419
    Location:32983912
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    PRK03918
    Location:18682369
    PRK03918; chromosome segregation protein; Provisional
    cd00014
    Location:33135
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:61376350
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:182281
    CH; Calponin homology (CH) domain
    pfam10541
    Location:69056936
    KASH; Nuclear envelope localization domain
    cl02488
    Location:51785384
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  28. XM_047431160.1XP_047287116.1  nesprin-2 isoform X20

    Related
    ENST00000394768.6
  29. XM_017021103.3XP_016876592.1  nesprin-2 isoform X21

    UniProtKB/TrEMBL
    Q6MZP0
  30. XM_017021104.3XP_016876593.1  nesprin-2 isoform X22

    UniProtKB/TrEMBL
    Q6MZP0
  31. XM_047431161.1XP_047287117.1  nesprin-2 isoform X23

    Related
    ENST00000555022.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    57969282..58434164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375667.1XP_054231642.1  nesprin-2 isoform X1

  2. XM_054375672.1XP_054231647.1  nesprin-2 isoform X1

  3. XM_054375669.1XP_054231644.1  nesprin-2 isoform X1

  4. XM_054375666.1XP_054231641.1  nesprin-2 isoform X1

  5. XM_054375674.1XP_054231649.1  nesprin-2 isoform X2

  6. XM_054375675.1XP_054231650.1  nesprin-2 isoform X3

  7. XM_054375678.1XP_054231653.1  nesprin-2 isoform X6

  8. XM_054375676.1XP_054231651.1  nesprin-2 isoform X4

  9. XM_054375677.1XP_054231652.1  nesprin-2 isoform X5

  10. XM_054375681.1XP_054231656.1  nesprin-2 isoform X9

  11. XM_054375679.1XP_054231654.1  nesprin-2 isoform X7

  12. XM_054375680.1XP_054231655.1  nesprin-2 isoform X8

  13. XM_054375683.1XP_054231658.1  nesprin-2 isoform X11

  14. XM_054375685.1XP_054231660.1  nesprin-2 isoform X13

  15. XM_054375682.1XP_054231657.1  nesprin-2 isoform X10

  16. XM_054375684.1XP_054231659.1  nesprin-2 isoform X12

  17. XM_054375687.1XP_054231662.1  nesprin-2 isoform X15

  18. XM_054375686.1XP_054231661.1  nesprin-2 isoform X14

  19. XM_054375688.1XP_054231663.1  nesprin-2 isoform X16

  20. XM_054375689.1XP_054231664.1  nesprin-2 isoform X17

  21. XM_054375690.1XP_054231665.1  nesprin-2 isoform X18

  22. XM_054375673.1XP_054231648.1  nesprin-2 isoform X1

  23. XM_054375671.1XP_054231646.1  nesprin-2 isoform X1

  24. XM_054375668.1XP_054231643.1  nesprin-2 isoform X1

  25. XM_054375670.1XP_054231645.1  nesprin-2 isoform X1

  26. XM_054375691.1XP_054231666.1  nesprin-2 isoform X24

  27. XM_054375692.1XP_054231667.1  nesprin-2 isoform X20

  28. XM_054375693.1XP_054231668.1  nesprin-2 isoform X21

  29. XM_054375694.1XP_054231669.1  nesprin-2 isoform X22

  30. XM_054375695.1XP_054231670.1  nesprin-2 isoform X23

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182912.1: Suppressed sequence

    Description
    NM_182912.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.