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PTPN7

Synonyms
BPTP-4, HEPTP, LC-PTP, LPTP, PTPNI
External resources
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene.

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
61
Likely pathogenic
0
VUS
4,715
Likely benign
246
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on PTPN7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.3%
Abnormality of the eye
28.3%
Abnormality of the musculoskeletal system
28.3%
Abnormality of the cardiovascular system
18.9%
Abnormality of head or neck
15.1%
Abnormality of the ear
9.4%
Abnormality of limbs
7.5%
Abnormality of the digestive system
7.5%
Abnormality of the endocrine system
7.5%
Abnormality of the genitourinary system
7.5%
Abnormality of the respiratory system
7.5%
Growth abnormality
7.5%
Abnormality of the immune system
5.7%
Abnormality of the integument
5.7%
Neoplasm
5.7%
Abnormality of blood and blood-forming tissues
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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