MAPKAPK5 Chromosome 12
MAPK activated protein kinase 5
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What This Gene Does
The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"MAPK activated protein kinases|MAPKAPK family"
Locus Type
gene with protein product
Location
12q24.12-q24.13
Ensembl
ENSG00000089022
Associated Conditions (1)
Neurocardiofaciodigital syndrome
Key Variants
RS1012399660
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
RS2069655229
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
RS2136153237
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
RS2542499808
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
RS2542533195
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
RS751979756
Pathogenic
Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1012399660 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2069655229 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2136153237 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2542499808 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS2542533195 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |
| RS751979756 | Health Risk | Pathogenic | Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome |