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DUSP3

Synonyms
VHR
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 maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1.

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
702
Likely benign
8
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on DUSP3 gene are displayed below. The following symptoms were found in patients with a variant in DUSP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of blood and blood forming tissues
10%
Abnormality of head or neck
10%
Abnormality of metabolism homeostasis
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the immune system
10%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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%
Growth abnormality
0%
Neoplasm
0%

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