• Gene id: 64699

Gene Summary

• Gene Symbol: TMPRSS3   Gene   UCSC   Ensembl
• Aliases: DFNB10, DFNB8, ECHOS1, TADG12
• Gene name: transmembrane serine protease 3
• Alternate names: transmembrane protease serine 3, serine protease TADG-12, transmembrane protease, serine 3, tumor-associated differentially-expressed gene 12 protein,
• Gene location: 21q22.3 (42396051: 42371836)     Exons: 13     NC_000021.9
• Gene summary(Entrez): 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 t
• OMIM: 605511

Protein Summary

• Protein general information: P57727  
  • Name: Transmembrane protease serine 3 (EC 3.4.21. ) (Serine protease TADG 12) (Tumor associated differentially expressed gene 12 protein)
  • Length: 454  
  • Mass: 49405
  • Tissue specificity: Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
• Sequence:

  MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSG
  KYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSY
  VSSDNLRVSSLEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLL
  SQWPWQASLQFQGYHLCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKR
  LGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDV
  YGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMER
  DLKT

• Structural information:
  • Protein Domains: (72..10-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (109..20-)
    (/note="SRCR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00196-)
    (217..44-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-Pr-)
  • Interpro: IPR036055  IPR023415  IPR002172  IPR009003  IPR001314   IPR001190  IPR017448  IPR036772  IPR001254  IPR018114  IPR033116  
  • Prosite: PS01209 PS50068 PS00420 PS50287 PS50240 PS00134 PS00135
  • CDD: cd00112 cd00190
  • STRING: ENSP00000291532
• Other Databases: GeneCards:  TMPRSS3  Malacards:  TMPRSS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006508	proteolysis	NAS	biological process
GO:0004252	serine-type endopeptidase activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005783	endoplasmic reticulum	HDA	cellular component
GO:0004252	serine-type endopeptidase activity	NAS	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Deafness, autosomal recessive	KEGG:H00605
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Sensorineural hearing loss	PMID:11137999
pancreatic ductal carcinoma	PMID:14695172
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R