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

Gene ID: 129684, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:18748
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
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Genomic context

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See CNTNAP5 in Genome Data Viewer
Location:
2q14.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (124025287..124921219)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (124462752..125358980)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (124782864..125678796)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:124782689-124783595 Neighboring gene CNTNAP5 divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:124803332-124804075 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:124804076-124804818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:124854974-124855478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:124855479-124855982 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:125290673-125291174 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:125291175-125291674 Neighboring gene MT-ND5 pseudogene 22 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:125584062-125585261 Neighboring gene NANOG hESC enhancer GRCh37_chr2:125733153-125733654 Neighboring gene RNA, 5S ribosomal pseudogene 102 Neighboring gene RNA, U6 small nuclear 259, pseudogene

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. Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma. Chakraborty S, et al. J Biosci, 2021. PMID 33737499
  2. Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. Ludington EG, et al. Am J Med Genet A, 2020 Jul. PMID 32329157
  3. A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder. Zhang Y, et al. Psychol Med, 2020 Feb. PMID 30722798
  4. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Pagnamenta AT, et al. Biol Psychiatry, 2010 Aug 15. PMID 20346443, Free PMC Article
  5. Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. Schott JM, et al. Alzheimers Dement, 2016 Aug. PMID 26993346, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma.
    Title: Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma.
  2. Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.
    Title: Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.
  3. A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.
    Title: A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.
  4. This exploratory genome-wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 (P = 8 x 10(-10) OR = 1.9 [1.5-2.3]).
    Title: Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
  5. Data suggest that rare variants in CNTNAP5 may confer autism spectrum disorder (ASD) susceptibility. Genomic disruption of both DOCK4 and CNTNAP5 genes may have an additive effect and may result in a more severe ASD phenotype.
    Title: Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.
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

EBI GWAS Catalog

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

  • FLJ31966

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

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

    Status: REVIEWED

    Source sequence(s)
    AC019105, AC019159, AC074362, AC079154, AC097715, AC104648
    Consensus CDS
    CCDS92855.1
    UniProtKB/TrEMBL
    A0A804HKY0
    Related
    ENSP00000508115.1, ENST00000682447.1

  2. NM_130773.4 → NP_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
    Q4ZFW2, Q4ZG21, Q53R09, Q53RX1, Q53SG3, Q584P3, Q8WYK1, Q96MS7
    Related
    ENSP00000399013.1, ENST00000431078.1
    Conserved Domains (6) summary
    smart00231
    Location:30 → 174
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00054
    Location:960 → 995
    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:34 → 173
    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:792 → 936
    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:550 → 581
    EGF; EGF-like domain
    pfam02210
    Location:209 → 338
    Laminin_G_2; Laminin G domain

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017003316.2 → XP_016858805.1  contactin-associated protein-like 5 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    124462752..125358980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340485.1 → XP_054196460.1  contactin-associated protein-like 5 isoform X1

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYK1.1 GenPept UniProtKB/Swiss-Prot:Q8WYK1

Gene LinkOut

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

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