TNIK gene

TRAF2 and NCK interacting kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.

From NCBI Gene:

  • Mental retardation, autosomal recessive 54

From UniProt:

Mental retardation, autosomal recessive 54 (MRT54): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity. [MIM:617028]

Cytogenetic Location: 3q26.2-q26.31, which is the long (q) arm of chromosome 3 between positions 26.2 and 26.31

Molecular Location: base pairs 171,058,414 to 171,460,408 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.2-q26.31, which is the long (q) arm of chromosome 3 between positions 26.2 and 26.31