CNTN4 Chromosome 3
Contactin 4
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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 | — |