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{{Short description|Protein found in humans}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Contactin-4''' is a [[protein]] that in humans is encoded by the ''CNTN4'' [[gene]].<ref name="pmid8586965">{{cite journal | vauthors = Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K | title = Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily | journal = J Neurobiol | volume = 28 | issue = 1 | pages = 51–69 |date=Mar 1996 | pmid = 8586965 | pmc = | doi = 10.1002/neu.480280106 }}</ref><ref name="pmid12202991">{{cite journal | vauthors = Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y | title = A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain | journal = J Hum Genet | volume = 47 | issue = 9 | pages = 497–9 |date=Aug 2002 | pmid = 12202991 | pmc = | doi = 10.1007/s100380200073 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CNTN4 contactin 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=152330| accessdate = }}</ref>
'''Contactin-4''' is a [[protein]] that in humans is encoded by the ''CNTN4'' [[gene]].<ref name="pmid8586965">{{cite journal | vauthors = Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K | title = Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily | journal = J Neurobiol | volume = 28 | issue = 1 | pages = 51–69 |date=Mar 1996 | pmid = 8586965 | doi = 10.1002/neu.480280106 }}</ref><ref name="pmid12202991">{{cite journal | vauthors = Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y | title = A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain | journal = J Hum Genet | volume = 47 | issue = 9 | pages = 497–9 |date=Aug 2002 | pmid = 12202991 | doi = 10.1007/s100380200073 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CNTN4 contactin 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=152330}}</ref>


The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.<ref name="entrez" />
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{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.<ref name="entrez" />
}}


==Genomics==
==Genomics==
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==Clinical relevance==
==Clinical relevance==


Abnormal expression of this gene has been implicated in some cases of [[autism]].<ref>http://www.newsdaily.com/stories/n18220544-autism-genes/</ref> It has also been associated with cerebellar degeneration in [[spinocerebellar ataxia]] type 16.
Abnormal expression of this gene has been implicated in some cases of [[autism]].<ref>{{cite web |url=http://www.newsdaily.com/stories/n18220544-autism-genes/ |title=Gene for brain connections linked with autism |website=www.newsdaily.com |url-status=dead |archive-url=https://web.archive.org/web/20080319111010/http://www.newsdaily.com/stories/n18220544-autism-genes/ |archive-date=2008-03-19}} </ref> It has also been associated with cerebellar degeneration in [[spinocerebellar ataxia]] type 16.


==References==
==References==
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{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | vauthors=Walsh FS, Doherty P |title=Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system |journal=Cell Biol. Int. Rep. |volume=15 |issue= 11 |pages= 1151–66 |year= 1992 |pmid= 1838307 |doi=10.1016/0309-1651(91)90061-M }}
*{{cite journal | vauthors=Walsh FS, Doherty P |title=Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system |journal=Cell Biol. Int. Rep. |volume=15 |issue= 11 |pages= 1151–66 |year= 1992 |pmid= 1838307 |doi=10.1016/0309-1651(91)90061-M }}
*{{cite journal | author=Miura S |title=The contactin 4 gene locus at 3p26 is a candidate gene of SCA16 |journal=Neurology |volume=67 |issue= 7 |pages= 1236–41 |year= 2006 |pmid= 17030759 |doi= 10.1212/01.wnl.0000238510.84932.82 |name-list-format=vanc| author2=Shibata H | author3=Furuya H | display-authors=3 | last4=Ohyagi | first4=Y. | last5=Osoegawa | first5=M. | last6=Miyoshi | first6=Y. | last7=Matsunaga | first7=H. | last8=Shibata | first8=A. | last9=Matsumoto | first9=N. }}
*{{cite journal | author=Miura S |title=The contactin 4 gene locus at 3p26 is a candidate gene of SCA16 |journal=Neurology |volume=67 |issue= 7 |pages= 1236–41 |year= 2006 |pmid= 17030759 |doi= 10.1212/01.wnl.0000238510.84932.82 |name-list-style=vanc| author2=Shibata H | author3=Furuya H | display-authors=3 | last4=Ohyagi | first4=Y. | last5=Osoegawa | first5=M. | last6=Miyoshi | first6=Y. | last7=Matsunaga | first7=H. | last8=Shibata | first8=A. | last9=Matsumoto | first9=N. |s2cid=34201347 }}
*{{cite journal | author=Liu T |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 | pmc=1850943 |name-list-format=vanc| author2=Qian WJ | author3=Gritsenko MA | display-authors=3 | last4=Camp | first4=David G. | last5=Monroe | first5=Matthew E. | last6=Moore | first6=Ronald J. | last7=Smith | first7=Richard D. }}
*{{cite journal | author=Liu T |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 | pmc=1850943 |name-list-style=vanc| author2=Qian WJ | author3=Gritsenko MA | display-authors=3 | last4=Camp | first4=David G. | last5=Monroe | first5=Matthew E. | last6=Moore | first6=Ronald J. | last7=Smith | first7=Richard D. }}
*{{cite journal | author=Gerhard DS |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 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
*{{cite journal | author=Gerhard DS |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 | pmc=528928 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
*{{cite journal | author=Fernandez T |title=Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1286–93 |year= 2004 |pmid= 15106122 |doi= 10.1086/421474 | pmc=1182094 |name-list-format=vanc| author2=Morgan T | author3=Davis N | display-authors=3 | last4=Klin | first4=Ami | last5=Morris | first5=Ashley | last6=Farhi | first6=Anita | last7=Lifton | first7=Richard P. | last8=State | first8=Matthew W. }}
*{{cite journal | author=Fernandez T |title=Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1286–93 |year= 2004 |pmid= 15106122 |doi= 10.1086/421474 | pmc=1182094 |name-list-style=vanc| author2=Morgan T | author3=Davis N | display-authors=3 | last4=Klin | first4=Ami | last5=Morris | first5=Ashley | last6=Farhi | first6=Anita | last7=Lifton | first7=Richard P. | last8=State | first8=Matthew W. }}
*{{cite journal | author=Ota T |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 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}
*{{cite journal | author=Ota T |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 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
*{{cite journal | author=Hansford LM |title=Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2) |journal=Cytogenet. Genome Res. |volume=101 |issue= 1 |pages= 17–23 |year= 2004 |pmid= 14571131 |doi= 10.1159/000073412 |name-list-format=vanc| author2=Smith SA | author3=Haber M | display-authors=3 | last4=Norris | first4=M.D. | last5=Cheung | first5=B. | last6=Marshall | first6=G.M. }}
*{{cite journal | author=Hansford LM |title=Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2) |journal=Cytogenet. Genome Res. |volume=101 |issue= 1 |pages= 17–23 |year= 2004 |pmid= 14571131 |doi= 10.1159/000073412 |name-list-style=vanc| author2=Smith SA | author3=Haber M | display-authors=3 | last4=Norris | first4=M.D. | last5=Cheung | first5=B. | last6=Marshall | first6=G.M. |s2cid=41391308 }}
*{{cite journal | author=Strausberg RL |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 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
*{{cite journal | author=Strausberg RL |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 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal | author=Kamei Y |title=Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members |journal=Genomics |volume=69 |issue= 1 |pages= 113–9 |year= 2001 |pmid= 11013081 |doi= 10.1006/geno.2000.6310 |name-list-format=vanc| author2=Takeda Y | author3=Teramoto K | display-authors=3 | last4=Tsutsumi | first4=Osamu | last5=Taketani | first5=Yuji | last6=Watanabe | first6=Kazutada }}
*{{cite journal | author=Kamei Y |title=Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members |journal=Genomics |volume=69 |issue= 1 |pages= 113–9 |year= 2001 |pmid= 11013081 |doi= 10.1006/geno.2000.6310 |name-list-style=vanc| author2=Takeda Y | author3=Teramoto K | display-authors=3 | last4=Tsutsumi | first4=Osamu | last5=Taketani | first5=Yuji | last6=Watanabe | first6=Kazutada }}
*{{cite journal | author=Mimmack ML |title=A novel splice variant of the cell adhesion molecule BIG-2 is expressed in the olfactory and vomeronasal neuroepithelia |journal=Brain Res. Mol. Brain Res. |volume=47 |issue= 1–2 |pages= 345–50 |year= 1997 |pmid= 9221934 |doi=10.1016/S0169-328X(97)00104-6 |name-list-format=vanc| author2=Saito H | author3=Evans G | display-authors=3 | last4=Bresler | first4=M | last5=Keverne | first5=E.B | last6=Emson | first6=P.C }}
*{{cite journal | author=Mimmack ML |title=A novel splice variant of the cell adhesion molecule BIG-2 is expressed in the olfactory and vomeronasal neuroepithelia |journal=Brain Res. Mol. Brain Res. |volume=47 |issue= 1–2 |pages= 345–50 |year= 1997 |pmid= 9221934 |doi=10.1016/S0169-328X(97)00104-6 |name-list-style=vanc| author2=Saito H | author3=Evans G | display-authors=3 | last4=Bresler | first4=M | last5=Keverne | first5=E.B | last6=Emson | first6=P.C }}
}}
{{refend}}
{{refend}}

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Revision as of 06:15, 6 December 2023

CNTN4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNTN4, AXCAM, BIG-2, contactin 4
External IDsOMIM: 607280 MGI: 1095737 HomoloGene: 14257 GeneCards: CNTN4
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001109749
NM_001109751
NM_173004
NM_001364565
NM_001364566

RefSeq (protein)

NP_001193884
NP_001193885
NP_783200
NP_783302
NP_001337024

NP_001103219
NP_001103221
NP_766592
NP_001351494
NP_001351495

Location (UCSC)Chr 3: 2.1 – 3.06 MbChr 6: 105.68 – 106.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.[5][6][7]

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[7]

Genomics

The gene is located on the short arm of chromosome 3 (3p26.3). It is a single copy gene within the Watson (plus) strand, 957,399 bases in length and encodes a protein of 1026 amino acids (molecular weight 113.454 kDa)

Clinical relevance

Abnormal expression of this gene has been implicated in some cases of autism.[8] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144619Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064293Ensembl, 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. ^ Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K (Mar 1996). "Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily". J Neurobiol. 28 (1): 51–69. doi:10.1002/neu.480280106. PMID 8586965.
  6. ^ Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y (Aug 2002). "A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain". J Hum Genet. 47 (9): 497–9. doi:10.1007/s100380200073. PMID 12202991.
  7. ^ a b "Entrez Gene: CNTN4 contactin 4".
  8. ^ "Gene for brain connections linked with autism". www.newsdaily.com. Archived from the original on 2008-03-19.

External links

Further reading