Contactin 4

Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.

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; OMA:CNTN4 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p26.3-p26.2 Start 2,098,813 bp End 3,057,959 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 E1 Start 105,677,660 bp End 106,699,310 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm buccal mucosa cell lateral nuclear group of thalamus pancreatic epithelial cell saphenous vein thoracic aorta ascending aorta Descending thoracic aorta popliteal artery tibial arteries Top expressed in olfactory epithelium medial dorsal nucleus medial geniculate nucleus lateral geniculate nucleus neural layer of retina supraoptic nucleus cerebellar cortex cerebellar vermis superior frontal gyrus secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function cell-cell adhesion mediator activity Cellular component anchored component of membrane axon membrane extracellular region plasma 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
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.

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. It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

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. S2CID 34201347.
• 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. S2CID 41391308.
• 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. Bibcode:2002PNAS...9916899M. 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.