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CASKIN2 CASK interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 57513, updated on 5-Mar-2024

Summary

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Official Symbol
CASKIN2provided by HGNC
Official Full Name
CASK interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:18200
See related
Ensembl:ENSG00000177303 MIM:612185; AllianceGenome:HGNC:18200
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
ANKS5B
Summary
This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression
Ubiquitous expression in fat (RPKM 13.1), lung (RPKM 12.8) and 24 other tissues See more
Orthologs
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Genomic context

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See CASKIN2 in Genome Data Viewer
Location:
17q25.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75500261..75515537, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76393591..76408903, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73496342..73511618, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6144 Neighboring gene RNA, U6 small nuclear 938, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12763 Neighboring gene Sharpr-MPRA regulatory region 2319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8967 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73464760-73464928 Neighboring gene transmembrane protein 94 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8968 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73476676-73476860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12766 Neighboring gene microRNA 6785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73510728-73511294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8969 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8971 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73521300-73521484 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene LLGL scribble cell polarity complex component 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73537609-73538426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73540787-73541589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73548510-73549090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553000-73553936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553937-73554872 Neighboring gene Sharpr-MPRA regulatory region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12769

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. A lack of peptide binding and decreased thermostability suggests that the CASKIN2 scaffolding protein SH3 domain may be vestigial. Kwan JJ, et al. BMC Struct Biol, 2016 Sep 13. PMID 27619958, Free PMC Article
  2. A human sterile alpha motif domain polymerizome. Knight MJ, et al. Protein Sci, 2011 Oct. PMID 21805519, Free PMC Article
  3. CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein. Tabuchi K, et al. J Neurosci, 2002 Jun 1. PMID 12040031, Free PMC Article
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
  5. Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. Tao WA, et al. Nat Methods, 2005 Aug. PMID 16094384

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. While the NMR structure demonstrates that the CASKIN2 SH3 domain is folded, its cleft has suffered two substitutions that prevent it from binding typical polyproline ligands.
    Title: A lack of peptide binding and decreased thermostability suggests that the CASKIN2 scaffolding protein SH3 domain may be vestigial.
Submit: New GeneRIF Correction

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

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

  • FLJ21609, KIAA1139

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
caskin-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.

Genomic

  1. NG_033152.1 RefSeqGene

    Range
    5047..20323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142643.3 → NP_001136115.1  caskin-2 isoform b

    See identical proteins and their annotated locations for NP_001136115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC100787, AK300354, AK315936, BC066643
    Consensus CDS
    CCDS45775.1
    UniProtKB/Swiss-Prot
    Q8WXE0
    Related
    ENSP00000406963.2, ENST00000433559.6
    Conserved Domains (9) summary
    cd09497
    Location:406 → 471
    SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
    cd09498
    Location:472 → 542
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    smart00454
    Location:478 → 539
    SAM; Sterile alpha motif
    cd12063
    Location:202 → 263
    SH3_Caskin2; Src Homology 3 domain of CASK interacting protein 2
    cd00204
    Location:27 → 159
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:70 → 169
    Ank_2; Ankyrin repeats (3 copies)
    pfam16632
    Location:1063 → 1120
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:716 → 801
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    sd00045
    Location:32 → 63
    ANK; ANK repeat [structural motif]

  2. NM_020753.5 → NP_065804.2  caskin-2 isoform a

    See identical proteins and their annotated locations for NP_065804.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC066643, DA336467, DA538297
    Consensus CDS
    CCDS11723.1
    UniProtKB/Swiss-Prot
    B4DTT3, B7Z9H1, Q7LG69, Q8WXE0, Q9ULT1
    Related
    ENSP00000325355.3, ENST00000321617.8
    Conserved Domains (9) summary
    cd09497
    Location:488 → 553
    SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
    cd09498
    Location:554 → 624
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    smart00454
    Location:560 → 621
    SAM; Sterile alpha motif
    cd12063
    Location:284 → 345
    SH3_Caskin2; Src Homology 3 domain of CASK interacting protein 2
    cd00204
    Location:76 → 209
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:152 → 251
    Ank_2; Ankyrin repeats (3 copies)
    pfam16632
    Location:1145 → 1202
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:798 → 883
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    sd00045
    Location:114 → 145
    ANK; ANK repeat [structural motif]

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    75500261..75515537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436459.1 → XP_047292415.1  caskin-2 isoform X1

    UniProtKB/Swiss-Prot
    B4DTT3, B7Z9H1, Q7LG69, Q8WXE0, Q9ULT1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76393591..76408903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316745.1 → XP_054172720.1  caskin-2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WXE0.2 GenPept UniProtKB/Swiss-Prot:Q8WXE0

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