Home > Gene Browser > DUSP7

DUSP7

Synonyms
MKPX, PYST2
External resources
Summary
Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009

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
19
Likely pathogenic
22
VUS
556
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 41 patients carrying pathogenic or likely pathogenic variants on DUSP7 gene are displayed below. The following symptoms were found in patients with a variant in DUSP7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.9%
Abnormality of the nervous system
43.9%
Abnormality of head or neck
24.4%
Abnormality of the musculoskeletal system
24.4%
Abnormality of the ear
22%
Abnormality of limbs
12.2%
Growth abnormality
12.2%
Abnormality of the integument
9.8%
Abnormality of the cardiovascular system
7.3%
Abnormality of prenatal development or birth
4.9%
Abnormality of the digestive system
4.9%
Abnormality of the genitourinary system
4.9%
Abnormality of the immune system
4.9%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of metabolism homeostasis
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Constitutional symptom
2.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.