QuickView for Caspr2 (gene)

Gene Symbol:

CNTNAP2 Homo sapiens

Full name:

contactin associated protein like 2

Synonyms:

AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin-associated protein-like 2, cell recognition molecule Caspr2, homolog of Drosophila neurexin IV

Genomic Location:

Chr 7: 145444386-147749019

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, th...

View Full 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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  CACTGCC_MIR34A_MIR34C_MIR449 ,  TGANTCA_AP1_C ,  TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D ,  TTTGTAG_MIR520D ,  GGGAGGRR_MAZ_Q6 ,  CEBPDELTA_Q6 ,  CATGTAA_MIR496 ,  CCTGTGA_MIR513 ,  TTCYRGAA_UNKNOWN ,  RRAGTTGT_UNKNOWN ,  ATTCTTT_MIR186 ,  TGTTTGY_HNF3_Q6 ,  AFP1_Q6 ,  AACTTT_UNKNOWN ,  YNGTTNNNATT_UNKNOWN

View More

View Less

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-142-5p ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-183 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-27 ,  Predicted Gene Targets for miR-34 ,  Predicted Gene Targets for miR-496

Cytogenetic Map:

7q35-q36.1

search → result