CNTNAP2

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CNTNAP2
Identifiers
Aliases CNTNAP2, AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin associated protein-like 2, contactin associated protein like 2
External IDs MGI: 1914047 HomoloGene: 69159 GeneCards: CNTNAP2
Gene location (Human)
Chromosome 7 (human)
Chr. Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for CNTNAP2
Genomic location for CNTNAP2
Band 7q35-q36.1 Start 146,116,002 bp[1]
End 148,420,998 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014141

NM_001004357
NM_025771

RefSeq (protein)

NP_054860

NP_001004357
NP_080047

Location (UCSC) Chr 7: 146.12 – 148.42 Mb Chr 7: 45.06 – 47.3 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.[5][6][7]

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.[8] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[7]

Clinical significance[edit]

CNTNAP2 has been associated with autism spectrum disorder but accounts for very few cases.[9][10][11]

CNTNAP2 may also be related to a disorder called specific language impairment.[12]

Interactions[edit]

CNTNAP2 has been shown to interact with CNTN2.[13]

References[edit]

  1. ^ a b c ENSG00000278728 GRCh38: Ensembl release 89: ENSG00000174469, ENSG00000278728 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039419 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E (December 1999). "Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels". Neuron. 24 (4): 1037–47. PMID 10624965. doi:10.1016/S0896-6273(00)81049-1. 
  6. ^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–64. PMID 10048485. doi:10.1093/dnares/5.6.355. 
  7. ^ a b "Entrez Gene: CNTNAP2 contactin associated protein-like 2". 
  8. ^ Helmrich A, Ballarino M, Tora L (December 2011). "Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes". Molecular Cell. 44 (6): 966–77. PMID 22195969. doi:10.1016/j.molcel.2011.10.013. 
  9. ^ Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH (January 2008). "Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene". American Journal of Human Genetics. 82 (1): 150–9. PMC 2253955Freely accessible. PMID 18179893. doi:10.1016/j.ajhg.2007.09.005. Archived from the original on 2008-01-16. Lay summaryUCLA Newsroom (2008-01-10). 
  10. ^ Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (January 2008). "A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism". American Journal of Human Genetics. 82 (1): 160–4. PMC 2253968Freely accessible. PMID 18179894. doi:10.1016/j.ajhg.2007.09.015. Archived from the original on 2008-01-16. Lay summaryJohns Hopkins Medicine (2008-01-22). 
  11. ^ Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW (January 2008). "Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders". American Journal of Human Genetics. 82 (1): 165–73. PMC 2253974Freely accessible. PMID 18179895. doi:10.1016/j.ajhg.2007.09.017. Archived from the original on 2008-01-16. 
  12. ^ Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE (November 2008). "A functional genetic link between distinct developmental language disorders". The New England Journal of Medicine. 359 (22): 2337–45. PMC 2756409Freely accessible. PMID 18987363. doi:10.1056/NEJMoa0802828. Lay summaryScienceNOW Daily News. 
  13. ^ Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D (September 2003). "Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers". The Journal of Cell Biology. 162 (6): 1161–72. PMC 2172849Freely accessible. PMID 12975355. doi:10.1083/jcb.200305078. 

External links[edit]

Further reading[edit]