TMPRSS3
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. [provided by RefSeq, Jan 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transmembrane serine protease 3 | MIM:605511 | Ensembl:ENSG00000160183 | HGNC:HGNC:11877 | PA36578 | 21q22.3 |
GO terms in TMPRSS3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | NAS | GO:0006508 | proteolysis |
| BP | IBA | GO:0006883 | cellular sodium ion homeostasis |
| BP | IDA | GO:0006883 | cellular sodium ion homeostasis |
| BP | IEA | GO:0006898 | receptor-mediated endocytosis |
| BP | IBA | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0007605 | sensory perception of sound |
| CC | HDA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005789 | endoplasmic reticulum membrane |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0043025 | neuronal cell body |
| MF | NAS | GO:0004252 | serine-type endopeptidase activity |
| MF | IEA | GO:0005044 | scavenger receptor activity |
| MF | IBA | GO:0017080 | sodium channel regulator activity |
| MF | IDA | GO:0017080 | sodium channel regulator activity |
Gene expression in normal tissue: TMPRSS3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TMPRSS3
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TMPRSS3
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