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

Gene ID: 26047, updated on 7-Dec-2018

Summary

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
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

Genomic context

See CNTNAP2 in Genome Data Viewer
Location:
7q35-q36.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (146116207..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 uncharacterized LOC105375553 Neighboring gene DPY19L4 pseudogene 2 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autism 15
MedGen: C2677504 OMIM: 612100 GeneReviews: Not available
Compare labs
Pitt-Hopkins-like syndrome 1
MedGen: C2750246 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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 

General protein information

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

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.

Genomic

  1. NG_007092.2 RefSeqGene

    Range
    5001..2309638
    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
    Q9UHC6
    UniProtKB/TrEMBL
    A0A090N7T7, B2RCH4
    Related
    ENSP00000354778.3, ENST00000361727.7
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    146116207..148420998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187564.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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