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CNTNAP2

January 01, 1970

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]

CNTNAP2
Identifiers
AliasesCNTNAP2, AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin associated protein-like 2, contactin associated protein like 2, contactin associated protein 2
External IDsOMIM: 604569; MGI: 1914047; HomoloGene: 69159; GeneCards: CNTNAP2; OMA:CNTNAP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

26047

66797

Ensembl

ENSG00000174469
ENSG00000278728

ENSMUSG00000039419

UniProt

Q9UHC6

Q9CPW0

RefSeq (mRNA)

NM_014141

NM_001004357
NM_025771

RefSeq (protein)

NP_054860

NP_001004357
NP_080047

Location (UCSC)Chr 7: 146.12 – 148.42 MbChr 6: 45.04 – 47.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[9] 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.[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 edit

CNTNAP2 has been shown to interact with CNTN2.[16]

See also edit

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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. doi:10.1016/S0896-6273(00)81049-1. PMID 10624965. S2CID 12444497.
  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. doi:10.1093/dnares/5.6.355. PMID 10048485.
  7. ^ a b "Entrez Gene: CNTNAP2 contactin associated protein-like 2".
  8. ^ Ashley, Euan A. (16 August 2016). "Towards precision medicine". Nature Reviews Genetics. 17 (9): 507–522. doi:10.1038/nrg.2016.86. PMID 27528417. S2CID 2609065.
  9. ^ Helmrich A, Ballarino M, Tora L (December 2011). "Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes" (PDF). Molecular Cell. 44 (6): 966–77. doi:10.1016/j.molcel.2011.10.013. PMID 22195969.
  10. ^ 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). . American Journal of Human Genetics. 82 (1): 150–9. doi:10.1016/j.ajhg.2007.09.005. PMC 2253955. PMID 18179893. Archived from the original on 2008-01-16.
    • Elaine Schmidt (2008-01-10). . UCLA Newsroom. Archived from the original on 2008-01-17.
  11. ^ Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A (January 2008). . American Journal of Human Genetics. 82 (1): 160–4. doi:10.1016/j.ajhg.2007.09.015. PMC 2253968. PMID 18179894. Archived from the original on 2008-01-16.
    • "Hopkins Team Identifies Autism Susceptibility Gene". Johns Hopkins Medicine (Press release). 2008-01-22.
  12. ^ 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). . American Journal of Human Genetics. 82 (1): 165–73. doi:10.1016/j.ajhg.2007.09.017. PMC 2253974. PMID 18179895. Archived from the original on 2008-01-16.
  13. ^ 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. doi:10.1056/NEJMoa0802828. PMC 2756409. PMID 18987363.
  14. ^ Peippo M, Ignatius J (April 2012). "Pitt-Hopkins Syndrome". Molecular Syndromology. 2 (3–5): 171–180. doi:10.1159/000335287. PMC 3366706. PMID 22670138.
  15. ^ Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, et al. (November 2009). "CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila". American Journal of Human Genetics. 85 (5): 655–66. doi:10.1016/j.ajhg.2009.10.004. PMC 2775834. PMID 19896112.
  16. ^ 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. doi:10.1083/jcb.200305078. PMC 2172849. PMID 12975355.

External links edit

  • 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 edit

  • 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. doi:10.1006/geno.2001.6517. PMID 11352571. 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. doi:10.1006/mcne.2002.1110. PMID 12093160. 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. doi:10.1101/gr.406902. PMC 187542. 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. doi:10.1046/j.1460-9568.2003.02441.x. PMID 12542678. 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. doi:10.1016/S0888-7543(03)00097-1. 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. doi:10.1083/jcb.200305078. PMC 2172849. 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. doi:10.1016/j.ygeno.2004.01.011. 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. doi:10.1056/NEJMoa052773. 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. doi:10.1038/sj.ejhg.5201824. PMID 17392702.


 

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

January 01, 1970
cntnap2, contactin, associated, protein, like, protein, that, humans, encoded, gene, since, most, recent, reference, human, genome, grch38, longest, gene, human, genome, identifiersaliases, auts15, caspr2, cdfe, nrxn4, pthsl1, contactin, associated, protein, l. 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 CNTNAP2IdentifiersAliasesCNTNAP2 AUTS15 CASPR2 CDFE NRXN4 PTHSL1 contactin associated protein like 2 contactin associated protein like 2 contactin associated protein 2External IDsOMIM 604569 MGI 1914047 HomoloGene 69159 GeneCards CNTNAP2 OMA CNTNAP2 orthologsGene location Human Chr Chromosome 7 human 1 Band7q35 q36 1Start146 116 002 bp 1 End148 420 998 bp 1 Gene location Mouse Chr Chromosome 6 mouse 2 Band6 6 B2 2 B2 3Start45 036 291 bp 2 End47 281 147 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incorpus callosumsuperior frontal gyrusprefrontal cortexBrodmann area 9ganglionic eminencesubstantia nigrahypothalamustemporal lobeamygdalahippocampus properTop expressed insubstantia nigraretinal pigment epitheliummolarlateral hypothalamushabenulaolfactory tuberclemotor neuronnucleus accumbensolfactory bulbpineal glandMore reference expression dataBioGPSn aGene ontologyMolecular functionenzyme binding protein bindingCellular componentperikaryon Golgi apparatus cell projection cell surface neuronal cell body dendrite early endosome axolemma juxtaparanode region of axon integral component of membrane membrane axon voltage gated potassium channel complex cell junction paranodal junctionBiological processclustering of voltage gated potassium channels thalamus development transmission of nerve impulse limbic system development learning neuron recognition vocal learning brain development vocalization behavior cell adhesion adult behavior cerebral cortex development social behavior superior temporal gyrus development neuron projection development striatum development protein localization to juxtaparanode region of axon neuron projection morphogenesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2604766797EnsemblENSG00000174469ENSG00000278728ENSMUSG00000039419UniProtQ9UHC6Q9CPW0RefSeq mRNA NM 014141NM 001004357NM 025771RefSeq protein NP 054860NP 001004357NP 080047Location UCSC Chr 7 146 12 148 42 MbChr 6 45 04 47 28 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse 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 9 It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness 7 Contents 1 Clinical significance 2 Interactions 3 See also 4 References 5 External links 6 Further readingClinical significance editCNTNAP2 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 editCNTNAP2 has been shown to interact with CNTN2 16 See also editBrett Abrahams geneticist and neuroscientistReferences edit 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 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 doi 10 1016 S0896 6273 00 81049 1 PMID 10624965 S2CID 12444497 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 doi 10 1093 dnares 5 6 355 PMID 10048485 a b Entrez Gene CNTNAP2 contactin associated protein like 2 Ashley Euan A 16 August 2016 Towards precision medicine Nature Reviews Genetics 17 9 507 522 doi 10 1038 nrg 2016 86 PMID 27528417 S2CID 2609065 Helmrich A Ballarino M Tora L December 2011 Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes PDF Molecular Cell 44 6 966 77 doi 10 1016 j molcel 2011 10 013 PMID 22195969 Alarcon 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 doi 10 1016 j ajhg 2007 09 005 PMC 2253955 PMID 18179893 Archived from the original on 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 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 doi 10 1016 j ajhg 2007 09 015 PMC 2253968 PMID 18179894 Archived from the original on 2008 01 16 Hopkins Team Identifies Autism Susceptibility Gene Johns Hopkins Medicine Press release 2008 01 22 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 doi 10 1016 j ajhg 2007 09 017 PMC 2253974 PMID 18179895 Archived from the original on 2008 01 16 Vernes SC Newbury DF Abrahams BS Winchester L Nicod J Groszer M Alarcon 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 doi 10 1056 NEJMoa0802828 PMC 2756409 PMID 18987363 Peippo M Ignatius J April 2012 Pitt Hopkins Syndrome Molecular Syndromology 2 3 5 171 180 doi 10 1159 000335287 PMC 3366706 PMID 22670138 Zweier C de Jong EK Zweier M Orrico A Ousager LB Collins AL et al November 2009 CNTNAP2 and NRXN1 are mutated in autosomal recessive Pitt Hopkins like mental retardation and determine the level of a common synaptic protein in Drosophila American Journal of Human Genetics 85 5 655 66 doi 10 1016 j ajhg 2009 10 004 PMC 2775834 PMID 19896112 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 doi 10 1083 jcb 200305078 PMC 2172849 PMID 12975355 External links editHuman 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 editNakabayashi 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 doi 10 1006 geno 2001 6517 PMID 11352571 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 doi 10 1006 mcne 2002 1110 PMID 12093160 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 doi 10 1101 gr 406902 PMC 187542 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 doi 10 1046 j 1460 9568 2003 02441 x PMID 12542678 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 doi 10 1016 S0888 7543 03 00097 1 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 doi 10 1083 jcb 200305078 PMC 2172849 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 doi 10 1016 j ygeno 2004 01 011 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 doi 10 1056 NEJMoa052773 PMID 16571880 Belloso JM Bache I Guitart M Caballin MR Halgren C Kirchhoff M Ropers HH Tommerup N Tumer 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 doi 10 1038 sj ejhg 5201824 PMID 17392702 nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CNTNAP2 amp oldid 1197751970, wikipedia, wiki, book, books, library,

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