MAPK7 Chromosome 17

Mitogen-activated protein kinase 7
3 variants 3 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitogen-activated protein kinases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000166484
Associated Conditions (4)
Scoliosis
isolated
susceptibility to
1
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS147296805 Health Risk Pathogenic Scoliosis, isolated, susceptibility to
RS1555613564 Health Risk Pathogenic Scoliosis, isolated, susceptibility to
RS758163506 Health Risk Pathogenic Scoliosis, isolated, susceptibility to
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