CNTN4

From Wikipedia, the free encyclopedia

Contactin 4

Identifiers

CNTN4; AXCAM; BIG-2; CNTN4A; MGC33615

External IDs

Gene ontology
Molecular Function:	• protein binding • GPI anchor binding
Cellular Component:	• plasma membrane • axon
Biological Process:	• cell adhesion • neuron adhesion • nervous system development • axon guidance • axonal fasciculation • brain development • neurite development • negative regulation of neuron differentiation • regulation of synaptic plasticity

Orthologs

Human

Mouse

n/a

n/a

n/a

Refseq

NM_175607 (mRNA)
NP_783200 (protein)

n/a (mRNA)
n/a (protein)

Location

Chr 3: 2.59 - 3.07 Mb

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Pubmed search

[1]

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Contactin 4, also known as CNTN4, is a human gene.^[1]

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.^[1]

Abnormal expression of this gene has been implicated in some cases of autism. ^[2]

[edit] References

[edit] Further reading

Walsh FS, Doherty P (1992). "Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system.". Cell Biol. Int. Rep. 15 (11): 1151-66. PMID 1838307.
Miura S, Shibata H, Furuya H, et al. (2006). "The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.". Neurology 67 (7): 1236-41. doi:10.1212/01.wnl.0000238510.84932.82. PMID 17030759.
Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070-80. doi:10.1021/pr0502065. PMID 16335952.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Fernandez T, Morgan T, Davis N, et al. (2004). "Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.". Am. J. Hum. Genet. 74 (6): 1286-93. doi:10.1086/421474. PMID 15106122.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Hansford LM, Smith SA, Haber M, et al. (2004). "Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2).". Cytogenet. Genome Res. 101 (1): 17-23. doi:10.1159/000073412. PMID 14571131.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Zeng L, Zhang C, Xu J, et al. (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.
Kamei Y, Takeda Y, Teramoto K, et al. (2001). "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. doi:10.1006/geno.2000.6310. PMID 11013081.
Mimmack ML, Saito H, Evans G, et al. (1997). "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. PMID 9221934.
Yoshihara Y, Kawasaki M, Tamada A, et al. (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.