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

    Gene ID: 57513, updated on 17-Jun-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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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