DUSP5

Chr 10

dual specificity phosphatase 5

Also known as: DUSP, HVH3

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 ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
44
Pubs (1 yr)
P/LP submissions
P/LP missense
0.92
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.003
Z-score 1.78
OE 0.47 (0.250.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.69Z-score
OE missense 0.87 (0.770.98)
182 obs / 210.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.250.92)
00.351.4
Missense OE?0.87 (0.770.98)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 6 / 12.9Missense obs/exp: 182 / 210.3Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DUSP5 · protein map & ClinVar variants

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