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TCP11L2 t-complex 11 like 2 [ Homo sapiens (human) ]

Gene ID: 255394, updated on 3-Apr-2024

Summary

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Official Symbol
TCP11L2provided by HGNC
Official Full Name
t-complex 11 like 2provided by HGNC
Primary source
HGNC:HGNC:28627
See related
Ensembl:ENSG00000166046 MIM:619889; AllianceGenome:HGNC:28627
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 5.7), lung (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106297935..106347003)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106265162..106310306)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106696511..106740781)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4815 Neighboring gene Sharpr-MPRA regulatory region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106696289-106697174 Neighboring gene RNA, U7 small nuclear 94 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:106725081-106725582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791431-106791932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791933-106792432 Neighboring gene RNA polymerase III subunit B Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106838256-106838461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106870783-106871355 Neighboring gene NANOG hESC enhancer GRCh37_chr12:106884667-106885244 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106887966-106888130 Neighboring gene uncharacterized LOC100287944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106929421-106929920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106934851-106935440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106944957-106945458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106974861-106975743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106977232-106977816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106979571-106980156 Neighboring gene Sharpr-MPRA regulatory region 8958 Neighboring gene Sharpr-MPRA regulatory region 7289 Neighboring gene regulatory factor X4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107038213-107038714 Neighboring gene uncharacterized LOC100505978

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Genome-wide association study of Tourette's syndrome. Scharf JM, et al. Mol Psychiatry, 2013 Jun. PMID 22889924, Free PMC Article
  2. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article
  3. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of Tourette's syndrome.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC40368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in muscle cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
T-complex protein 11-like protein 2
Names
t-complex 11, testis-specific-like 2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001286262.2 → NP_001273191.1  T-complex protein 11-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001273191.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC079174, AC080012, BC017872, BC033617
    Consensus CDS
    CCDS66456.1
    UniProtKB/TrEMBL
    G3V1Z2
    Related
    ENSP00000448952.1, ENST00000547153.5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 257
    Tcp11; T-complex protein 11

  2. NM_152772.3 → NP_689985.1  T-complex protein 11-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_689985.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC079174, AC080012, BC033617
    Consensus CDS
    CCDS9104.1
    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Related
    ENSP00000299045.3, ENST00000299045.8
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    106297935..106347003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428667.1 → XP_047284623.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5

  2. XM_017019131.2 → XP_016874620.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  3. XM_047428666.1 → XP_047284622.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5

  4. XM_011538129.4 → XP_011536431.1  T-complex protein 11-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011536431.1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  5. XM_017019127.3 → XP_016874616.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  6. XM_017019129.3 → XP_016874618.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  7. XM_011538130.3 → XP_011536432.1  T-complex protein 11-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011536432.1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  8. XM_005268768.5 → XP_005268825.1  T-complex protein 11-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005268825.1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  9. XM_005268767.6 → XP_005268824.1  T-complex protein 11-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005268824.1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  10. XM_017019130.3 → XP_016874619.1  T-complex protein 11-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2RA65, G3V1Y9, Q8N4U5
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 500
    Tcp11; T-complex protein 11

  11. XM_017019133.3 → XP_016874622.1  T-complex protein 11-like protein 2 isoform X2

    Conserved Domains (1) summary
    pfam05794
    Location:12 → 432
    Tcp11; T-complex protein 11

  12. XM_011538132.4 → XP_011536434.1  T-complex protein 11-like protein 2 isoform X3

    UniProtKB/TrEMBL
    G3V1Z2
    Conserved Domains (1) summary
    pfam05794
    Location:77 → 320
    Tcp11; T-complex protein 11

  13. XM_047428669.1 → XP_047284625.1  T-complex protein 11-like protein 2 isoform X4

  14. XM_047428671.1 → XP_047284627.1  T-complex protein 11-like protein 2 isoform X4

  15. XM_047428673.1 → XP_047284629.1  T-complex protein 11-like protein 2 isoform X4

  16. XM_047428670.1 → XP_047284626.1  T-complex protein 11-like protein 2 isoform X4

    Related
    ENSP00000448629.1, ENST00000553098.5

  17. XM_047428672.1 → XP_047284628.1  T-complex protein 11-like protein 2 isoform X4

  18. XM_047428668.1 → XP_047284624.1  T-complex protein 11-like protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    106265162..106310306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371674.1 → XP_054227649.1  T-complex protein 11-like protein 2 isoform X1

  2. XM_054371669.1 → XP_054227644.1  T-complex protein 11-like protein 2 isoform X1

  3. XM_054371672.1 → XP_054227647.1  T-complex protein 11-like protein 2 isoform X1

  4. XM_054371676.1 → XP_054227651.1  T-complex protein 11-like protein 2 isoform X2

  5. XM_054371677.1 → XP_054227652.1  T-complex protein 11-like protein 2 isoform X3

  6. XM_054371679.1 → XP_054227654.1  T-complex protein 11-like protein 2 isoform X4

  7. XM_054371680.1 → XP_054227655.1  T-complex protein 11-like protein 2 isoform X4

  8. XM_054371671.1 → XP_054227646.1  T-complex protein 11-like protein 2 isoform X1

  9. XM_054371670.1 → XP_054227645.1  T-complex protein 11-like protein 2 isoform X1

  10. XM_054371668.1 → XP_054227643.1  T-complex protein 11-like protein 2 isoform X1

  11. XM_054371678.1 → XP_054227653.1  T-complex protein 11-like protein 2 isoform X4

  12. XM_054371673.1 → XP_054227648.1  T-complex protein 11-like protein 2 isoform X1

  13. XM_054371681.1 → XP_054227656.1  T-complex protein 11-like protein 2 isoform X4

  14. XM_054371675.1 → XP_054227650.1  T-complex protein 11-like protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N4U5.1 GenPept UniProtKB/Swiss-Prot:Q8N4U5

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