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    CNTNAP5 contactin associated protein like 5 [ Homo sapiens (human) ]

    Gene ID: 129684, updated on 29-Mar-2018

    Summary

    Official Symbol
    CNTNAP5provided by HGNC
    Official Full Name
    contactin associated protein like 5provided by HGNC
    Primary source
    HGNC:HGNC:18748
    See related
    Ensembl:ENSG00000155052 MIM:610519; Vega:OTTHUMG00000153356
    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
    caspr5
    Summary
    This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 3.7), gall bladder (RPKM 0.7) and 1 other tissue See more
    Orthologs

    Genomic context

    See CNTNAP5 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (124025287..124921201)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (124782864..125672954)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985819 Neighboring gene RNA, 7SK small nuclear pseudogene 102 Neighboring gene uncharacterized LOC107985820 Neighboring gene MT-ND5 pseudogene 22 Neighboring gene RNA, 5S ribosomal pseudogene 102 Neighboring gene RNA, U6 small nuclear 259, 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    NHGRI GWA Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog
    Genome-wide association study of multiplex schizophrenia pedigrees.
    NHGRI GWA Catalog
    Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ31966

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    contactin-associated protein-like 5
    Names
    cell recognition molecule Caspr5

    NCBI Reference Sequences (RefSeq)

    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_130773.3NP_570129.1  contactin-associated protein-like 5 precursor

      See identical proteins and their annotated locations for NP_570129.1

      Status: REVIEWED

      Source sequence(s)
      AB077881, AI199572, AK056528
      Consensus CDS
      CCDS46401.1
      UniProtKB/Swiss-Prot
      Q8WYK1
      Related
      ENSP00000399013.1, OTTHUMP00000203755, ENST00000431078.1, OTTHUMT00000330864
      Conserved Domains (6) summary
      smart00231
      Location:30174
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00054
      Location:960995
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00057
      Location:34173
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:792936
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00008
      Location:550581
      EGF; EGF-like domain
      pfam02210
      Location:209338
      Laminin_G_2; Laminin G domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      124025287..124921201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712258.1XP_006712321.1  contactin-associated protein-like 5 isoform X1

      See identical proteins and their annotated locations for XP_006712321.1

      Conserved Domains (6) summary
      smart00231
      Location:30174
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00054
      Location:961996
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00057
      Location:34173
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:793937
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00008
      Location:551582
      EGF; EGF-like domain
      pfam02210
      Location:209338
      Laminin_G_2; Laminin G domain
    2. XM_017003316.1XP_016858805.1  contactin-associated protein-like 5 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138996.1: Suppressed sequence

      Description
      NM_138996.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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