TNIK Chromosome 3
TRAF2 and NCK interacting kinase
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What This Gene Does
Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
3q26.2-q26.31
Ensembl
ENSG00000154310
Associated Conditions (2)
Intellectual disability
autosomal recessive 54
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886037841 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 54, Intellectual disability |