TMPRSS3

GENE INFORMATION

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Gene name

TMPRSS3 (HGNC Symbol)

Synonyms

DFNB10, DFNB8

Description

Transmembrane protease, serine 3 (HGNC Symbol)

Entrez gene 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]

Chromosome

21

Cytoband

q22.3

Chromosome location (bp)

42371890 - 42396846

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000160183 (version 78.38)

Entrez gene

64699

UniProt

P57727 (UniProt - Evidence at protein level)

neXtProt

NX_P57727

Antibodypedia

TMPRSS3 antibodies
 

PROTEIN VIEW

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TMPRSS3-001
 
TMPRSS3-002
 
TMPRSS3-003
 
TMPRSS3-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMPRSS3-001 ENSP00000291532
ENST00000291532
P57727
Show all »
Show » Show » 454 49.4 No 1
TMPRSS3-002 ENSP00000411013
ENST00000433957
P57727
Show all »
Show » Show » 453 49.3 No 1
TMPRSS3-003 ENSP00000381434
ENST00000398397
P57727
Show all »
Show » Show » 344 37.5 No 1
TMPRSS3-004 ENSP00000381442
ENST00000398405
B7WPR2
Show all »
Show » Show » 451 49.1 No 1