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PTPN12

Synonyms
PTP-PEST, PTPG1
External resources
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
30
Likely pathogenic
0
VUS
1,134
Likely benign
1,408
Benign
1,344

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on PTPN12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
46.7%
Abnormality of the nervous system
40%
Abnormality of the cardiovascular system
33.3%
Abnormality of the ear
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the eye
13.3%
Abnormality of the respiratory system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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