TMPRSS3

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.^[5][6][7]

TMPRSS3
Identifiers
Aliases	TMPRSS3, DFNB10, DFNB8, ECHOS1, TADG12, transmembrane protease, serine 3, transmembrane serine protease 3
External IDs	OMIM: 605511; MGI: 2155445; HomoloGene: 56985; GeneCards: TMPRSS3; OMA:TMPRSS3 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 42,371,887 bp[1] End 42,396,091 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 31,398,239 bp[2] End 31,417,951 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell right uterine tube bronchial epithelial cell mucosa of paranasal sinus olfactory zone of nasal mucosa pylorus gallbladder nasal epithelium epithelium of nasopharynx germinal epithelium Top expressed in vestibular sensory epithelium utricle vestibular membrane of cochlear duct cochlea granulocyte submandibular gland parasympathetic nervous system thyroid gland pharynx tongue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function scavenger receptor activity sodium channel regulator activity peptidase activity serine-type peptidase activity hydrolase activity serine-type endopeptidase activity Cellular component integral component of membrane soma endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process cellular sodium ion homeostasis hearing receptor-mediated endocytosis proteolysis regulation of molecular function vesicle-mediated transport endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64699 140765 Ensembl ENSG00000160183 ENSMUSG00000024034 UniProt P57727 Q8K1T0 RefSeq (mRNA) NM_001256317 NM_024022 NM_032401 NM_032404 NM_032405 NM_001163776 NM_080727 RefSeq (protein) NP_001243246 NP_076927 NP_115780 NP_115781 NP_001157248 NP_542765 Location (UCSC) Chr 21: 42.37 – 42.4 Mb Chr 17: 31.4 – 31.42 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor class A 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. Four alternatively spliced variants have been described, two of which encode identical products.^[7]

See also

• Nonsyndromic deafness (DFNB8)