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TMPRSS3

Synonyms
DFNB10, DFNB8, ECHOS1, TADG12
External resources
Summary
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. 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 by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described.

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
27
Likely pathogenic
23
VUS
2,142
Likely benign
835
Benign
120

Patient Phenotypes

Proportions of phenotypes among 47 patients carrying pathogenic or likely pathogenic variants on TMPRSS3 gene are displayed below. The following symptoms were found in patients with a variant in TMPRSS3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25.5%
Abnormality of the nervous system
25.5%
Abnormality of the eye
17%
Abnormality of the ear
14.9%
Abnormality of the musculoskeletal system
10.6%
Abnormality of head or neck
8.5%
Growth abnormality
8.5%
Abnormality of blood and blood forming tissues
6.4%
Abnormality of the immune system
6.4%
Abnormality of limbs
4.3%
Constitutional symptom
4.3%
Abnormality of metabolism homeostasis
2.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the digestive system
2.1%
Abnormality of the genitourinary system
2.1%
Abnormal cellular phenotype
0%
Abnormality of the breast
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%
Neoplasm
0%

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