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DUSP4

Synonyms
HVH2, MKP-2, MKP2, TYP
External resources
Summary
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, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
1,501
Likely benign
414
Benign
0

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on DUSP4 gene are displayed below. The following symptoms were found in patients with a variant in DUSP4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Growth abnormality
75%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of metabolism homeostasis
25%
Abnormality of the endocrine system
25%
Abnormality of the eye
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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