Contactin 4 Explained

Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.^{[1] [2] [3]}

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.

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.^[4] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

Further reading

• Walsh FS, Doherty P . Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system . Cell Biol. Int. Rep. . 15 . 11 . 1151–66 . 1992 . 1838307 . 10.1016/0309-1651(91)90061-M .
• Miura S . The contactin 4 gene locus at 3p26 is a candidate gene of SCA16 . Neurology . 67 . 7 . 1236–41 . 2006 . 17030759 . 10.1212/01.wnl.0000238510.84932.82 . vanc. Shibata H . Furuya H . 3 . Ohyagi . Y. . Osoegawa . M. . Miyoshi . Y. . Matsunaga . H. . Shibata . A. . Matsumoto . N. . 34201347 .
• Liu T . Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry . J. Proteome Res. . 4 . 6 . 2070–80 . 2006 . 16335952 . 10.1021/pr0502065 . 1850943 . vanc. Qian WJ . Gritsenko MA . 3 . Camp . David G. . Monroe . Matthew E. . Moore . Ronald J. . Smith . Richard D. .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Fernandez T . Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome . Am. J. Hum. Genet. . 74 . 6 . 1286–93 . 2004 . 15106122 . 10.1086/421474 . 1182094 . vanc. Morgan T . Davis N . 3 . Klin . Ami . Morris . Ashley . Farhi . Anita . Lifton . Richard P. . State . Matthew W. .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Hansford LM . Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2) . Cytogenet. Genome Res. . 101 . 1 . 17–23 . 2004 . 14571131 . 10.1159/000073412 . vanc. Smith SA . Haber M . 3 . Norris . M.D. . Cheung . B. . Marshall . G.M. . 41391308 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Kamei Y . Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members . Genomics . 69 . 1 . 113–9 . 2001 . 11013081 . 10.1006/geno.2000.6310 . vanc. Takeda Y . Teramoto K . 3 . Tsutsumi . Osamu . Taketani . Yuji . Watanabe . Kazutada .
• Mimmack ML . A novel splice variant of the cell adhesion molecule BIG-2 is expressed in the olfactory and vomeronasal neuroepithelia . Brain Res. Mol. Brain Res. . 47 . 1–2 . 345–50 . 1997 . 9221934 . 10.1016/S0169-328X(97)00104-6 . vanc. Saito H . Evans G . 3 . Bresler . M . Keverne . E.B . Emson . P.C .

Notes and References

1. Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K . 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 . Mar 1996 . 8586965 . 10.1002/neu.480280106 .
2. Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y . 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 . Aug 2002 . 12202991 . 10.1007/s100380200073 . free .
3. Web site: Entrez Gene: CNTN4 contactin 4.
4. Web site: Gene for brain connections linked with autism . www.newsdaily.com . dead . https://web.archive.org/web/20080319111010/http://www.newsdaily.com/stories/n18220544-autism-genes/ . 2008-03-19.