ⓘ CNTNAP2

                                     

ⓘ CNTNAP2

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome

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 the putative binding site of PDZ. This protein is localized at the juxtaparanodes myelinated axons and associated with potassium channels. It may play an important role in the local differentiation of the axon into separate functional subdomains. This gene comprises of almost 1.6% of chromosome 7 and is one of the largest genes in the human genome. It may be a positional candidate gene for DFNB13 forms of non-syndromic deafness.

                                     
  • Contactin - associated protein - like 4 is a protein that in humans is encoded by the CNTNAP 4 gene. This gene product belongs to the neurexin family, members of which
  • and subsequent functional characterization of the autism - related gene CNTNAP2 with Dan Geschwind at UCLA. Publications in scientific journals including
  • BTBD9 CASPR4 CNTNAP 1 CNTNAP2 CNTNAP 3 CNTNAP 4 CNTNAP 5 CPXM1 CPXM 2 DCBLD1 DCBLD 2 DDR1 DDR 2 EDIL3 F5 F8 F8B MFGE8 NRP1 NRP 2 RS1 SSPO UNC13A
  • Is Associated with Variation in the Autism Risk Gene CNTNAP2 Science Translational Medicine. 2 56 56ra80 56ra80. doi: 10.1126 scitranslmed.3001344
  • protein 1, Paranodin and CASPR1 is a protein that in humans is encoded by the CNTNAP 1 gene. CASPR is a part of the neurexin family of proteins, hence its another
  • a potential target for therapeutic intervention. CNTN 2 has been shown to interact with CNTNAP2 and NFYB. GRCh38: Ensembl release 89: ENSG00000184144
  • SCARF1 SCARF 2 SREC STAB1 USH 2 A AGRIN CELSR1 CELSR 2 CELSR3 CNTNAP 1 CNTNAP2 CNTNAP 3 CNTNAP 3B CNTNAP 4 CNTNAP 5 COL11A1 COL11A 2 COL12A1 COL14A1
  • CASPR4 CD248 CD93 CELSR1 CELSR 2 CELSR3 CLEC14A CNTNAP 1 CNTNAP2 CNTNAP 3 CNTNAP 4 CNTNAP 5 COMP COX - 2 CRB1 CRB 2 CSPG3 CUBN DLK1 DLL1 DLL3
  • protein like 2 CNTNAP2 gene on the long arm of chromosome 7 7q33 - q36 and the neurexin 1 alpha NRXN1 gene on the short arm of chromosome 2 2 p16.3 Malformations
  • heterozygous mice have a lowered seizure threshold. Mutations of CNTNAP2 the gene encoding CASPR 2 have been reported to be associated with intellectual disability