CNTNAP2

Also known as AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin associated protein-like 2, contactin associated protein like 2, contactin associated protein 2

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.

In the Vinony graph

Vinony's link graph records 20 inbound references to CNTNAP2, and connects out to PubMed, human chromosome 7 and Ensembl genome database project.

It is catalogued under topics including Genes on human chromosome 7 and Long stubs with short prose.

Vinony links it to 8 Wikipedia language editions.

Gene data

CNTNAP2

Name: contactin associated protein 2
Type: protein-coding
Aliases: AUTS15, CASPR2, CDFE, NRXN4, PTHSL1

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].

via MyGene.info

Gene · Ensembl

contactin associated protein 2

Symbol: CNTNAP2
Biotype: Protein coding
Organism: Homo sapiens
Location: 7:146,116,002-148,420,998
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 9 more facts

HomoloGene ID: 69159
genetic association: schizophrenia
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/26047
chromosome: human chromosome 7
genomic start: 145813453
genomic end: 148118090
cytogenetic location: 7q35-q36.1
expressed in: substantia nigra

Sources (6)

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Encyclopedic overview

6 sections

Contents

Clinical significance
Interactions
See also
References
External links
Further reading

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.

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 associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.

Excerpted from Wikipedia’s “CNTNAP2” article, available under the CC BY-SA 4.0 licence.