Function
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
Gene References into Functions
- High CNTN4 expression is associated with Pheochromocytomas and Paragangliomas. PMID: 28938490
- Association between contactin 4 (CNTN4) and antisaccade and P300 in schizophrenia. PMID: 27995817
- SNPs within the CNTN4 gene are associated with increased risk of oral cancer. PMID: 28595731
- SNPs in ITPR1 and CNTN4 are involved in the regulation of serum uric acid concentrations in Mexican Americans PMID: 27039371
- By combining methylation and SNP data, CNTN4 was identified as a risk factor for regular alcohol use. PMID: 26146898
- data reveal critical and novel roles for CNTN4/amyloid precursor protein in promoting target-specific axon arborization PMID: 25959733
- We identified CNTN4 as a novel candidate gene for POAG. PMID: 24764060
- these results suggest that rare copy number variations in CNTN4 may also influence autism susceptibility in Asian populations. PMID: 22750301
- Using array comparative genome hybridization (CGH), we identified a maternally inherited approximately 535 kb deletion at 3p26.3 encompassing the 5' end of the contactin 4 gene (CNTN4) in a patient with autism. PMID: 21308999
- Our results demonstrate the association of CNTN4 disruption with the 3p deletion syndrome phenotype and strongly suggest a causal relationship PMID: 15106122
- The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C-->T to be a causative mutation. PMID: 17030759
- pathological examinations and molecular biological examinations are needed to confirm that this mutation is a true cause of SCA16 PMID: 17915252
- This report suggests that mutations affecting CNTN4 function may be relevant to Autism spectrum disorder pathogenesis. PMID: 18349135
- results do not support the candidacy of CHL1, CNTN6, and CNTN4 as tumor suppressor genes in the 3p26-pter region in ovarian cancer PMID: 19509545
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Involvement in disease
A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features.
Subcellular Location
Cell membrane; Lipid-anchor, GPI-anchor. Secreted.
Protein Families
Immunoglobulin superfamily, Contactin family
Tissue Specificity
Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expressed in skeletal muscle
