CNTNAP2: Difference between revisions

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(CNTNAP2 is referred to as the longest gene in the newest human reference human genome, coming in at 2,473,559 base pairs)
 
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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Contactin-associated protein-like 2''' is a [[protein]] that in humans is encoded by the ''CNTNAP2'' [[gene]].<ref name="pmid10624965">{{cite journal | vauthors = Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E | title = Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels | journal = Neuron | volume = 24 | issue = 4 | pages = 1037–47 | date = December 1999 | pmid = 10624965 | pmc = | doi = 10.1016/S0896-6273(00)81049-1 }}</ref><ref name="pmid10048485">{{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 6 | pages = 355–64 | date = December 1998 | pmid = 10048485 | pmc = | doi = 10.1093/dnares/5.6.355 }}</ref><ref name="entrez"/>
| require_manual_inspection = no
Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome <ref>{{cite journal|last1=Ashley|first1=Euan A.|title=Towards precision medicine|journal=Nature Reviews Genetics|date=16 August 2016|volume=17|issue=9|pages=507–522|doi=10.1038/nrg.2016.86| accessdate = }}</ref>
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Contactin associated protein-like 2
| HGNCid = 13830
| Symbol = CNTNAP2
| AltSymbols =; NRXN4; CASPR2; CDFE; DKFZp781D1846
| OMIM = 604569
| ECnumber = 
| Homologene = 69159
| MGIid = 1914047
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0008038 |text = neuron recognition}} {{GNF_GO|id=GO:0019226 |text = transmission of nerve impulse}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 26047
    | Hs_Ensembl = ENSG00000174469
    | Hs_RefseqProtein = NP_054860
    | Hs_RefseqmRNA = NM_014141
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 145444902
    | Hs_GenLoc_end = 147749019
    | Hs_Uniprot = Q9UHC6
    | Mm_EntrezGene = 66797
    | Mm_Ensembl = ENSMUSG00000039419
    | Mm_RefseqmRNA = NM_001004357
    | Mm_RefseqProtein = NP_001004357
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 44989897
    | Mm_GenLoc_end = 47228898
    | Mm_Uniprot = Q3SYI6
  }}
}}
'''Contactin associated protein-like 2''', also known as '''CNTNAP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CNTNAP2 contactin associated protein-like 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26047| accessdate = }}</ref>
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->{{PBB_Summary
| section_title =
| summary_text = 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 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.<ref name="entrez">{{cite web | title = Entrez Gene: CNTNAP2 contactin associated protein-like 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26047| accessdate = }}</ref>
}}
''CNTNAP2'' has recently been associated with autism spectrum disorder.<ref>{{cite journal |journal= Am J Hum Genet |date=2008 |volume=82 |issue=1 |pages=150–9 |title= Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene |author= Alarcón M, Abrahams BS, Stone JL ''et al.'' |pmid=18179893 |url=http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00011-0 |laysummary=http://newsroom.ucla.edu/portal/ucla/ucla-scientists-identify-new-genetic-42778.aspx |laysource=UCLA Newsroom |laydate=2008-01-10}}</ref><ref>{{cite journal |journal= Am J Hum Genet |date=2008 |volume=82 |issue=1 |pages=160–4 |title= A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism |author= Arking DE, Cutler DJ, Brune CW ''et al.'' |pmid=18179894 |url=http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00021-3 |laysummary=http://www.hopkinsmedicine.org/Press_releases/2008/01_22_08.html |laydate=2008-01-22 |laysource= Johns Hopkins Medicine}}</ref><ref>{{cite journal |journal= Am J Hum Genet |date=2008 |volume=82 |issue=1 |pages=165–73 |title= Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders |author= Bakkaloglu B, O'Roak BJ, Louvi A ''et al.'' |pmid=18179895 |url=http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00023-7}}</ref>


==References==
This gene encodes a member of the [[neurexin]] family which functions in the vertebrate nervous system as [[cell adhesion molecule]]s 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 channel]]s. 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]].<ref>{{cite journal | vauthors = Helmrich A, Ballarino M, Tora L | title = Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes | language = English | journal = Molecular Cell | volume = 44 | issue = 6 | pages = 966–77 | date = December 2011 | pmid = 22195969 | doi = 10.1016/j.molcel.2011.10.013 | url = http://linkinghub.elsevier.com/retrieve/pii/S1097276511008896 }}</ref> It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.<ref name="entrez">{{cite web | title = Entrez Gene: CNTNAP2 contactin associated protein-like 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26047| accessdate = }}</ref>
{{reflist|2}}
==Further reading==
{{refbegin}}
{{PBB_Further_reading
| citations =  


*{{cite journal  | author=Nagase T, Ishikawa K, Suyama M, ''et al.'' |title=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. |journal=DNA Res. |volume=5 |issue= 6 |pages= 355-64 |year= 1999 |pmid= 10048485 |doi=  }}
== Clinical significance ==
*{{cite journal | author=Poliak S, Gollan L, Martinez R, ''et al.'' |title=Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. |journal=Neuron |volume=24 |issue= 4 |pages= 1037-47 |year= 2000 |pmid= 10624965 |doi= }}
 
*{{cite journal | author=Nakabayashi K, Scherer SW |title=The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. |journal=Genomics |volume=73 |issue= 1 |pages= 108-12 |year= 2001 |pmid= 11352571 |doi= 10.1006/geno.2001.6517 }}
''CNTNAP2'' has been associated with [[autism spectrum disorder]] but accounts for very few cases.<ref>{{cite journal | vauthors = 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 | title = Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene | journal = American Journal of Human Genetics | volume = 82 | issue = 1 | pages = 150–9 | date = January 2008 | pmid = 18179893 | pmc = 2253955 | doi = 10.1016/j.ajhg.2007.09.005 | url = http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00011-0 | laydate = 2008-01-10 | laysource = UCLA Newsroom | layurl = http://newsroom.ucla.edu/portal/ucla/ucla-scientists-identify-new-genetic-42778.aspx | deadurl = yes | archiveurl = https://web.archive.org/web/20080116062126/http://www.ajhg.org/AJHG/fulltext/S0002-9297%2807%2900011-0 | archivedate = 2008-01-16 | df = }}</ref><ref>{{cite journal | vauthors = Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH, Chakravarti A | title = A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism | journal = American Journal of Human Genetics | volume = 82 | issue = 1 | pages = 160–4 | date = January 2008 | pmid = 18179894 | pmc = 2253968 | doi = 10.1016/j.ajhg.2007.09.015 | url = http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00021-3 | laydate = 2008-01-22 | laysource = Johns Hopkins Medicine | layurl = http://www.hopkinsmedicine.org/Press_releases/2008/01_22_08.html | deadurl = yes | archiveurl = https://web.archive.org/web/20080116062131/http://www.ajhg.org/AJHG/fulltext/S0002-9297%2807%2900021-3 | archivedate = 2008-01-16 | df =  }}</ref><ref>{{cite journal | vauthors = 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 | title = Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders | journal = American Journal of Human Genetics | volume = 82 | issue = 1 | pages = 165–73 | date = January 2008 | pmid = 18179895 | pmc = 2253974 | doi = 10.1016/j.ajhg.2007.09.017 | url = http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00023-7 | deadurl = yes | archiveurl = https://web.archive.org/web/20080116062226/http://www.ajhg.org/AJHG/fulltext/S0002-9297%2807%2900023-7 | archivedate = 2008-01-16 | df =  }}</ref>
*{{cite journal | author=Spiegel I, Salomon D, Erne B, ''et al.'' |title=Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains. |journal=Mol. Cell. Neurosci. |volume=20 |issue= 2 |pages= 283-97 |year= 2002 |pmid= 12093160 |doi= }}
 
*{{cite journal | author=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773-84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 }}
''CNTNAP2'' may also be related to a disorder called [[specific language impairment]].<ref>{{cite journal | vauthors = Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE | title = A functional genetic link between distinct developmental language disorders | journal = The New England Journal of Medicine | volume = 359 | issue = 22 | pages = 2337–45 | date = November 2008 | pmid = 18987363 | pmc = 2756409 | doi = 10.1056/NEJMoa0802828 | url = http://content.nejm.org/cgi/content/full/NEJMoa0802828 | laysummary = http://www.sciencemag.org/news/2008/11/first-genetic-clue-common-speech-disorder | laysource =  [[ScienceNOW]] Daily News }}</ref>
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
 
*{{cite journal  | author=Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, ''et al.'' |title=Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres. |journal=Eur. J. Neurosci. |volume=17 |issue= 2 |pages= 411-6 |year= 2003 |pmid= 12542678 |doi= }}
== Interactions ==
*{{cite journal  | author=Scherer SW, Cheung J, MacDonald JR, ''et al.'' |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767-72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 }}
 
*{{cite journal | author=Verkerk AJ, Mathews CA, Joosse M, ''et al.'' |title=CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. |journal=Genomics |volume=82 |issue= 1 |pages= 1-9 |year= 2004 |pmid= 12809671 |doi=  }}
CNTNAP2 has been shown to [[Protein-protein interaction|interact]] with [[CNTN2]].<ref name=pmid12975355>{{cite journal | vauthors = Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D | title = Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers | journal = The Journal of Cell Biology | volume = 162 | issue = 6 | pages = 1161–72 | date = September 2003 | pmid = 12975355 | pmc = 2172849 | doi = 10.1083/jcb.200305078 }}</ref>
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
{{Clear}}
*{{cite journal | author=Traka M, Goutebroze L, Denisenko N, ''et al.'' |title=Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. |journal=J. Cell Biol. |volume=162 |issue= 6 |pages= 1161-72 |year= 2003 |pmid= 12975355 |doi= 10.1083/jcb.200305078 }}
 
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
== References ==
*{{cite journal  | author=Fu GK, Wang JT, Yang J, ''et al.'' |title=Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. |journal=Genomics |volume=84 |issue= 1 |pages= 205-10 |year= 2005 |pmid= 15203218 |doi= 10.1016/j.ygeno.2004.01.011 }}
{{reflist|33em}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
 
*{{cite journal |author= Strauss KA, Puffenberger EG, Huentelman MJ ''et al.'' |title= Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2 |journal= N Engl J Med |volume=354 |issue=13 |pages=1370–7 |year=2006 |pmid=16571880 |doi=10.1056/NEJMoa052773 |url=http://content.nejm.org/cgi/content/full/354/13/1370}}
== External links ==
*{{cite journal | author=Belloso JM, Bache I, Guitart M, ''et al.'' |title=Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. |journal=Eur. J. Hum. Genet. |volume=15 |issue= 6 |pages= 711-3 |year= 2007 |pmid= 17392702 |doi= 10.1038/sj.ejhg.5201824 }}
* {{UCSC gene info|CNTNAP2}}
}}
 
== Further reading ==
{{refbegin|33em}}
* {{cite journal | vauthors = Nakabayashi K, Scherer SW | title = The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35 | journal = Genomics | volume = 73 | issue = 1 | pages = 108–12 | date = April 2001 | pmid = 11352571 | doi = 10.1006/geno.2001.6517 }}
* {{cite journal | vauthors = Spiegel I, Salomon D, Erne B, Schaeren-Wiemers N, Peles E | title = Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains | journal = Molecular and Cellular Neurosciences | volume = 20 | issue = 2 | pages = 283–97 | date = June 2002 | pmid = 12093160 | doi = 10.1006/mcne.2002.1110 }}
* {{cite journal | vauthors = Nakayama M, Kikuno R, Ohara O | title = Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs | journal = Genome Research | volume = 12 | issue = 11 | pages = 1773–84 | date = November 2002 | pmid = 12421765 | pmc = 187542 | doi = 10.1101/gr.406902 }}
* {{cite journal | vauthors = Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA | title = Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres | journal = The European Journal of Neuroscience | volume = 17 | issue = 2 | pages = 411–6 | date = January 2003 | pmid = 12542678 | doi = 10.1046/j.1460-9568.2003.02441.x }}
* {{cite journal | vauthors = Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA | title = CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder | journal = Genomics | volume = 82 | issue = 1 | pages = 1–9 | date = July 2003 | pmid = 12809671 | doi = 10.1016/S0888-7543(03)00097-1 }}
* {{cite journal | vauthors = Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, Iwakura Y, Fukamauchi F, Watanabe K, Soliven B, Girault JA, Karagogeos D | title = Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers | journal = The Journal of Cell Biology | volume = 162 | issue = 6 | pages = 1161–72 | date = September 2003 | pmid = 12975355 | pmc = 2172849 | doi = 10.1083/jcb.200305078 }}
* {{cite journal | vauthors = Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL | title = Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes | journal = Genomics | volume = 84 | issue = 1 | pages = 205–10 | date = July 2004 | pmid = 15203218 | doi = 10.1016/j.ygeno.2004.01.011 }}
* {{cite journal | vauthors = Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH | title = Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2 | journal = The New England Journal of Medicine | volume = 354 | issue = 13 | pages = 1370–7 | date = March 2006 | pmid = 16571880 | doi = 10.1056/NEJMoa052773 | url = http://content.nejm.org/cgi/content/full/354/13/1370 }}
* {{cite journal | vauthors = Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tümer Z | title = Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome | journal = European Journal of Human Genetics | volume = 15 | issue = 6 | pages = 711–3 | date = June 2007 | pmid = 17392702 | doi = 10.1038/sj.ejhg.5201824 }}
{{refend}}
{{refend}}


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Latest revision as of 14:29, 30 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.[1][2][3] Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome [4]

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.[5] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[3]

Clinical significance

CNTNAP2 has been associated with autism spectrum disorder but accounts for very few cases.[6][7][8]

CNTNAP2 may also be related to a disorder called specific language impairment.[9]

Interactions

CNTNAP2 has been shown to interact with CNTN2.[10]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: CNTNAP2 contactin associated protein-like 2".
  4. ↑ Ashley, Euan A. (16 August 2016). "Towards precision medicine". Nature Reviews Genetics. 17 (9): 507–522. doi:10.1038/nrg.2016.86.
  5. ↑ 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. doi:10.1016/j.molcel.2011.10.013. PMID 22195969.
  6. ↑ 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).
  7. ↑ 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).
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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

Further reading

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