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    CNTNAP2 contactin associated protein like 2 [ Homo sapiens (human) ]

    Gene ID: 26047, updated on 15-Oct-2017
    Official Symbol
    CNTNAP2provided by HGNC
    Official Full Name
    contactin associated protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:13830
    See related
    Ensembl:ENSG00000174469 MIM:604569; Vega:OTTHUMG00000152743
    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
    CDFE; NRXN4; AUTS15; CASPR2; PTHSL1
    Summary
    This gene encodes a member of the neurexin family which functions 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, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]
    Orthologs
    Location:
    7q35-q36.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (146116035..148420998)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (145813453..148118090)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dpy-19 like 4 (C. elegans) pseudogene Neighboring gene uncharacterized LOC105375553 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene uncharacterized LOC101928700 Neighboring gene deoxyuridine triphosphatase pseudogene 3 Neighboring gene RAN, member RAS oncogene family pseudogene 2 Neighboring gene microRNA 548f-4 Neighboring gene uncharacterized LOC107986721 Neighboring gene uncharacterized LOC105375556 Neighboring gene RNA, U6 small nuclear 1184, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 249 Neighboring gene RNA, 7SL, cytoplasmic 456, pseudogene Neighboring gene uncharacterized LOC105375554 Neighboring gene exosome component 6 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 72, pseudogene

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Autism 15
    MedGen: C2677504 OMIM: 612100 GeneReviews: Not available
    Compare labs
    Cortical dysplasia-focal epilepsy syndrome
    MedGen: C1864887 OMIM: 610042 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2012-08-08)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A comprehensive genetic association study of Alzheimer disease in African Americans.
    NHGRI GWA Catalog
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    NHGRI GWA Catalog
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    NHGRI GWA Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    NHGRI GWA Catalog
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp781D1846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    clustering of voltage-gated potassium channels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    limbic system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron recognition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein localization to juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striatum development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    superior temporal gyrus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    thalamus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    transmission of nerve impulse NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite NAS
    Non-traceable Author Statement
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body NAS
    Non-traceable Author Statement
    more info
    PubMed 
    paranodal junction IEA
    Inferred from Electronic Annotation
    more info
     
    perikaryon NAS
    Non-traceable Author Statement
    more info
    PubMed 
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated potassium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    contactin-associated protein-like 2
    Names
    cell recognition molecule Caspr2
    homolog of Drosophila neurexin IV

    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_007092.2 RefSeqGene

      Range
      5001..2309638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014141.5NP_054860.1  contactin-associated protein-like 2 precursor

      See identical proteins and their annotated locations for NP_054860.1

      Status: REVIEWED

      Source sequence(s)
      AC073308, AC083849, AK315113, BC093780
      Consensus CDS
      CCDS5889.1
      UniProtKB/Swiss-Prot
      Q9UHC6
      UniProtKB/TrEMBL
      A0A090N7T7, B2RCH4
      Related
      ENSP00000354778.3, OTTHUMP00000202306, ENST00000361727.7, OTTHUMT00000327668
      Conserved Domains (8) summary
      smart00294
      Location:12821300
      4.1m; putative band 4.1 homologues' binding motif
      smart00231
      Location:34181
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      smart00282
      Location:10501185
      LamG; Laminin G domain
      cd00054
      Location:555590
      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:70180
      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:800943
      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 ...
      pfam02210
      Location:216345
      Laminin_G_2; Laminin G domain
      cl02436
      Location:609632
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      146116035..148420998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011950.1XP_016867439.1  contactin-associated protein-like 2 isoform X1

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187564.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      2405..204593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      145822316..148126480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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