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TMPRSS4

Synonyms
CAP2, CAPH2, MT-SP2, TMPRSS3
External resources
Summary
This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms 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
4
Likely pathogenic
2
VUS
1,226
Likely benign
2,161
Benign
24

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on TMPRSS4 gene are displayed below. The following symptoms were found in patients with a variant in TMPRSS4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of blood and blood forming tissues
20%
Abnormality of head or neck
20%
Abnormality of prenatal development or birth
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the nervous system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
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%
Neoplasm
0%

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