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

    Gene ID: 26047, updated on 9-Dec-2024

    Summary

    Official Symbol
    CNTNAP2provided by HGNC
    Official Full Name
    contactin associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:13830
    See related
    Ensembl:ENSG00000174469 MIM:604569; AllianceGenome:HGNC:13830
    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]
    Expression
    Biased expression in brain (RPKM 12.9), prostate (RPKM 4.1) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CNTNAP2 in Genome Data Viewer
    Location:
    7q35-q36.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (146116801..148420998)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (147296849..149602894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (145813893..148118090)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375553 Neighboring gene MPRA-validated peak6819 silencer Neighboring gene MPRA-validated peak6820 silencer Neighboring gene uncharacterized LOC124901765 Neighboring gene MPRA-validated peak6822 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:145629475-145629976 Neighboring gene NANOG hESC enhancer GRCh37_chr7:145694161-145694662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:145715805-145716394 Neighboring gene MPRA-validated peak6823 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:145750296-145751495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:145858210-145858754 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:145945721-145946492 Neighboring gene transmembrane protein 183A pseudogene Neighboring gene MPRA-validated peak6825 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:146485317-146485842 Neighboring gene Sharpr-MPRA regulatory region 553 Neighboring gene NANOG hESC enhancer GRCh37_chr7:146572321-146572837 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:146602536-146603152 Neighboring gene CNTNAP2 antisense RNA 1 Neighboring gene deoxyuridine triphosphatase pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147120875-147121406 Neighboring gene RAN pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147133565-147134311 Neighboring gene microRNA 548f-4 Neighboring gene uncharacterized LOC107986721 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147304031-147304584 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147304585-147305137 Neighboring gene uncharacterized LOC105375556 Neighboring gene NANOG hESC enhancer GRCh37_chr7:147500602-147501173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_97821 Neighboring gene RNA, U6 small nuclear 1184, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:147605052-147605552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:147605553-147606053 Neighboring gene RNA, 5S ribosomal pseudogene 249 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:147696507-147697163 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:147697164-147697819 Neighboring gene NANOG hESC enhancer GRCh37_chr7:147708749-147709250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147717495-147718281 Neighboring gene RNA, 7SL, cytoplasmic 456, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26798 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:147868766-147869965 Neighboring gene Sharpr-MPRA regulatory region 9018 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:147977203-147977403 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:147987619-147988173 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:148012335-148012894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:148024709-148025285 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:148032138-148033043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:148036315-148036845 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:148037465-148038070 Neighboring gene uncharacterized LOC105375554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:148080395-148080896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:148080897-148081398 Neighboring gene small nucleolar RNA U3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:148092562-148093198 Neighboring gene exosome component 6 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 72, 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

    Associated conditions

    Description Tests
    Autism, susceptibility to, 15
    MedGen: C2677504 OMIM: 612100 GeneReviews: Not available
    Compare labs
    Cortical dysplasia-focal epilepsy syndrome
    MedGen: C2750246 OMIM: 610042 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-10-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-10-23)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A comprehensive genetic association study of Alzheimer disease in African Americans.
    EBI GWAS Catalog
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781D1846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brain development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cerebral cortex development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in clustering of voltage-gated potassium channels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in limbic system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron recognition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in striatum development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in superior temporal gyrus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in thalamus development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in transmission of nerve impulse NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in neuronal cell body NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in paranodal junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in paranode region of axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perikaryon NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated potassium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    contactin-associated protein-like 2
    Names
    cell recognition molecule Caspr2
    contactin associated protein like 2
    homolog of Drosophila neurexin IV

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007092.3 RefSeqGene

      Range
      5801..2309998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014141.6NP_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
      D3DWG2, Q14DG2, Q52LV1, Q5H9Q7, Q9UHC6, Q9UQ12
      UniProtKB/TrEMBL
      A0A090N7T7, B2RCH4
      Related
      ENSP00000354778.3, ENST00000361727.8
      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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      146116801..148420998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011950.3XP_016867439.1  contactin-associated protein-like 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187564.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      147296849..149602894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357812.1XP_054213787.1  contactin-associated protein-like 2 isoform X1