DUSP3
dual specificity phosphatase 3
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. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1230399 | 17:41,845,403 | C/T | 3 prime UTR variant | — |
| rs1230402 | 17:41,846,508 | A/G | 3 prime UTR variant | — |
| rs200022065 | 17:41,847,171 | C/T | — | uncertain significance |
| rs146976455 | 17:41,847,179 | C/T | — | uncertain significance |
| rs751046817 | 17:41,852,107 | T/C | — | uncertain significance |
| rs562230366 | 17:41,852,188 | C/T | — | uncertain significance |
| rs144239960 | 17:41,852,211 | T/C | — | uncertain significance |
| rs148312361 | 17:41,852,249 | G/A | — | likely benign |
| rs200953860 | 17:41,856,238 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.