CNTNAP2

CNTNAP2
معین‌کننده‌ها
نام‌های دیگر	CNTNAP2, AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, contactin associated protein-like 2, contactin associated protein like 2, contactin associated protein 2
شناسه‌های بیرونی	OMIM: 604569 MGI: 1914047 HomoloGene: 69159 GeneCards: CNTNAP2
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)[1]
End	47,304,213 bp[1]
هستی‌شناسی ژن
عملکرد ملکولی	• enzyme binding; • GO:0001948 پیوند پروتئینی;
ترکیبات سلولی	• پریکاریون; • دستگاه گلژی; • cell projection; • cell surface; • neuronal cell body; • دندریت; • early endosome; • axolemma; • juxtaparanode region of axon; • integral component of membrane; • membrane; • آسه; • voltage-gated potassium channel complex; • پیوند میان‌یاخته‌ای; • paranodal junction;
فرایند زیستی	• clustering of voltage-gated potassium channels; • thalamus development; • transmission of nerve impulse; • limbic system development; • یادگیری; • neuron recognition; • vocal learning; • brain development; • vocalization behavior; • cell adhesion; • adult behavior; • cerebral cortex development; • رفتار اجتماعی; • superior temporal gyrus development; • neuron projection development; • striatum development; • protein localization to juxtaparanode region of axon; • neuron projection morphogenesis;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	26047
	66797
	ENSG00000174469; ENSG00000278728
	ENSMUSG00000039419
	Q9UHC6
	Q9CPW0
	XM_017011950 NM_014141، XM_017011950
	NM_025771، XM_006506483، XM_030255547 NM_001004357، NM_025771، XM_006506483، XM_030255547
	XP_016867439 NP_054860، XP_016867439
	NP_080047، XP_006506546، XP_030111407 NP_001004357، NP_080047، XP_006506546، XP_030111407
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

شبه‌پروتئین شمارهٔ ۲ وابسته به کانتکتین (انگلیسی: Contactin-associated protein-like 2‎) که با نامِ CNTNAP2 شناخته می‌شود، یک پروتئین است که در انسان، توسط ژن «CNTNAP2» کُدگذاری می‌شود.[4][5][6] ژن مذکور، طولانی‌ترین ژن در ژنوم انسان است[7] و در حدود ۱٫۶٪ از کروموزوم ۷ را فرا گرفته‌است.[8]

ژن «CNTNAP2» یکی از اعضای خانوادهٔ نورکسین را می‌سازد که در دستگاه اعصاب مهره‌داران، به‌عنوان یک گیرندهٔ پروتئینی و همچنین مولکول اتصال‌دهندهٔ سلولی عمل می‌کند. این مولکول پروتئینی همچون سایر پروتئین‌های خانوادهٔ نورکسین، حاوی توالی‌های فاکتور رشد اپیدرمی و همچنین دومین‌های لامینین جی است و با کانال‌های پتاسیمی آکسون‌ها هم در ارتباط است.

ژن مذکور ممکن است با «طیف اختلالات اوتیسمی»[9][10][11] و همچنین «آسیب زبانی ویژه» در ارتباط باشد.[12]

این مولکول با کانتکتین ۲ تعامل پروتئین-پروتئین دارد.[13]

منابع

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.
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.
"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.
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 (به English). 44 (6): 966–77. doi:10.1016/j.molcel.2011.10.013. PMID 22195969.
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. doi:10.1016/j.ajhg.2007.09.005. PMC 2253955. PMID 18179893. Archived from the original on 2008-01-16. Lay summary – UCLA Newsroom (2008-01-10).
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. doi:10.1016/j.ajhg.2007.09.015. PMC 2253968. PMID 18179894. Archived from the original on 2008-01-16. Lay summary – Johns Hopkins Medicine (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, 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. Lay summary – ScienceNOW Daily News.
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.

مشارکت‌کنندگان ویکی‌پدیا. «CNTNAP2». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۹ مه ۲۰۱۸.

بیشتر بخوانید

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.
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.
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.
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.

پیوند به بیرون

مکان ژنوم CNTNAP2 انسانی و صفحهٔ جزئیات ژنی CNTNAP2 در سامانه جستجوی بانک ژنی دانشگاه کالیفرنیا، سانتا کروز.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000039419 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10624965-4] 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.

[pmid10048485-5] 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.

[entrez-6] "Entrez Gene: CNTNAP2 contactin associated protein-like 2".

[7] Ashley, Euan A. (16 August 2016). "Towards precision medicine". Nature Reviews Genetics. 17 (9): 507–522. doi:10.1038/nrg.2016.86.

[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 (به English). 44 (6): 966–77. doi:10.1016/j.molcel.2011.10.013. PMID 22195969.

[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. doi:10.1016/j.ajhg.2007.09.005. PMC 2253955. PMID 18179893. Archived from the original on 2008-01-16. Lay summary – UCLA 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. doi:10.1016/j.ajhg.2007.09.015. PMC 2253968. PMID 18179894. Archived from the original on 2008-01-16. Lay summary – Johns 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. doi:10.1016/j.ajhg.2007.09.017. PMC 2253974. PMID 18179895. 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. doi:10.1056/NEJMoa0802828. PMC 2756409. PMID 18987363. Lay summary – ScienceNOW Daily News.

[pmid12975355-13] 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. doi:10.1083/jcb.200305078. PMC 2172849. PMID 12975355.