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Gene : CNTNAP2 Homo sapiens

Name  ? contactin associated protein 2 Cytological Location  7q35-q36.1
Brief Description  contactin associated protein 2
Description  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]
  • synonyms:
  • contactin associated protein like 2,
  • NM_014141,
  • NRXN4,
  • CASPR2,
  • NRXN4,
  • Caspr2,
  • AUTS15,
  • CNTNAP2,
  • AF193613,
  • uc003weu.3,
  • CDFE,
  • HGNC:13830,
  • PTHSL1,
  • KIAA0868,
  • OTTHUMG00000152743
  • identifiers:
  • 26047,
  • ENSG00000174469,
  • CNTNAP2

Genome feature

Region: gene ? Length: 2304792
Location: 7:146116207-148420998 Cyto location: 7q35-q36.1


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Disease

2 Diseases

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591 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results