CNTNAP2
| CNTNAP2 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
| ||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 7: 146.12 – 148.42 Mb | Chr 6: 45.04 – 47.28 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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] Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome [8]
This gene encodes a member of the
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.[9] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[7]
Clinical significance
CNTNAP2 has been associated with
autism spectrum disorder but accounts for very few cases.[10][11][12] CNTNAP2 may also be related to a disorder called specific language impairment.[13]
Recessive mutations in CNTNAP2 result in a disorder that resembles Pitt–Hopkins syndrome.[14][15]
Interactions
CNTNAP2 has been shown to
CNTN2.[16]
See also
- Brett Abrahams, geneticist and neuroscientist
References
- ^ a b c ENSG00000278728 GRCh38: Ensembl release 89: ENSG00000174469, ENSG00000278728 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039419 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 12444497.
- PMID 10048485.
- ^ a b "Entrez Gene: CNTNAP2 contactin associated protein-like 2".
- S2CID 2609065.
- PMID 22195969.
- PMID 18179893. Archived from the originalon 2008-01-16.
- Elaine Schmidt (2008-01-10). "UCLA scientists identify new genetic link to autism". UCLA Newsroom. Archived from the original on 2008-01-17.
- PMID 18179894. Archived from the originalon 2008-01-16.
- "Hopkins Team Identifies Autism Susceptibility Gene". Johns Hopkins Medicine (Press release). 2008-01-22.
- PMID 18179895. Archived from the originalon 2008-01-16.
- PMID 18987363.
- PMID 22670138.
- PMID 19896112.
- PMID 12975355.
External links
- Human CNTNAP2 genome location and CNTNAP2 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9UHC6 (Contactin-associated protein-like 2) at the PDBe-KB.
Further reading
- Nakabayashi K, Scherer SW (April 2001). "The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35". Genomics. 73 (1): 108–12. S2CID 16120451.
- Spiegel I, Salomon D, Erne B, Schaeren-Wiemers N, Peles E (June 2002). "Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains". Molecular and Cellular Neurosciences. 20 (2): 283–97. S2CID 25024421.
- Nakayama M, Kikuno R, Ohara O (November 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. PMID 12421765.
- Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA (January 2003). "Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres". The European Journal of Neuroscience. 17 (2): 411–6. S2CID 21570541.
- Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA (July 2003). "CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder". Genomics. 82 (1): 1–9. PMID 12809671.
- 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. PMID 12975355.
- Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (July 2004). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. PMID 15203218.
- Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH (March 2006). "Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2". The New England Journal of Medicine. 354 (13): 1370–7. PMID 16571880.
- Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z (June 2007). "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome". European Journal of Human Genetics. 15 (6): 711–3. PMID 17392702.
 | This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. |