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

Gene ID: 129684, updated on 11-Oct-2019

Summary

Official Symbol
CNTNAP5provided by HGNC
Official Full Name
contactin associated protein family member 5provided by HGNC
Primary source
HGNC:HGNC:18748
See related
Ensembl:ENSG00000155052 MIM:610519
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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (124025287..124921219)
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 RN7SK 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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
contactin associated protein like 5

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_001367498.1NP_001354427.1  contactin-associated protein-like 5 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC019105, AC019159, AC074362, AC079154, AC097715, AC104648
  2. NM_130773.4NP_570129.1  contactin-associated protein-like 5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_570129.1

    Status: REVIEWED

    Source sequence(s)
    AB077881, AC019105, AK056528
    Consensus CDS
    CCDS46401.1
    UniProtKB/Swiss-Prot
    Q8WYK1
    Related
    ENSP00000399013.1, ENST00000431078.1
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    124025287..124921219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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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