CNTN4 Chromosome 3

Contactin 4
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"I-set domain containing|Contactins"
Locus Type
gene with protein product
Location
3p26.3-p26.2
Ensembl
ENSG00000144619
Associated Conditions (1)
Lip and oral cavity carcinoma
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS9849237 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS200414214 Health Risk Conflicting classifications of pathogenicity
RS775725299 Health Risk Conflicting classifications of pathogenicity
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