DUSP12

Chr 1

dual specificity phosphatase 12

Also known as: DUSP1, YVH1

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 is 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 is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 1.90
OE 0.51 (0.310.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.88 (0.781.00)
169 obs / 191.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.310.89)
00.351.4
Missense OE?0.88 (0.781.00)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 9 / 17.6Missense obs/exp: 169 / 191.6Syn Z: 0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DUSP12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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