Contactin 4

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

CNTN4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JXA, 3KLD
Identifiers
Aliases	CNTN4, AXCAM, BIG-2, contactin 4
External IDs	OMIM: 607280 MGI: 1095737 HomoloGene: 14257 GeneCards: CNTN4
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p26.3-p26.2 Start 2,098,813 bp[1] End 3,057,959 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E1 Start 105,677,660 bp[2] End 106,699,310 bp[2]
Gene ontology Molecular function • protein binding involved in cell-cell adhesion Cellular component • anchored component of membrane • axon • membrane • extracellular region • cell membrane Biological process • neuron cell-cell adhesion • cell adhesion • axonal fasciculation • negative regulation of neuron differentiation • axonogenesis • nervous system development • regulation of synaptic plasticity • axon guidance • brain development • neuron projection development • homophilic cell adhesion via plasma membrane adhesion molecules • dendrite self-avoidance Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	152330	269784
Ensembl	ENSG00000144619	ENSMUSG00000064293
UniProt	Q8IWV2	Q69Z26
RefSeq (mRNA)	NM_001206955 NM_001206956 NM_175607 NM_175612 NM_175613 NM_001350095	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 Mb	Chr 6: 105.68 – 106.7 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000144619 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000064293 - Ensembl, 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. "Entrez Gene: CNTN4 contactin 4".
8. http://www.newsdaily.com/stories/n18220544-autism-genes/

External links

• Human CNTN4 genome location and CNTN4 gene details page in the UCSC Genome Browser.

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. doi:10.1016/0309-1651(91)90061-M. 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. PMC 1850943. 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. PMC 528928. 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. PMC 1182094. 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. PMC 139241. PMID 12477932.
• 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. doi:10.1016/S0169-328X(97)00104-6. PMID 9221934.