DUSP6 Chromosome 12

Dual specificity phosphatase 6
3 variants 3 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
MAP kinase phosphatases
Locus Type
gene with protein product
Location
12q21.33
Ensembl
ENSG00000139318
Associated Conditions (1)
Hypogonadotropic hypogonadism 19 with or without anosmia
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS139318648 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
RS143946794 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
RS1879213059 Health Risk Pathogenic Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
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