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

    Gene ID: 129684, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (124025287..124921219)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (124462752..125358980)
    RS_2024_09 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 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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-09-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-09-24)

    ClinGen Genome Curation PagePubMed

    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_2024_08

    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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