• Gene id: 283471

Gene Summary

• Gene Symbol: TMPRSS12   Gene   UCSC   Ensembl
• Aliases: CT151
• Gene name: transmembrane serine protease 12
• Alternate names: transmembrane protease serine 12, testicular tissue protein Li 208, transmembrane (C-terminal) protease, serine 12, transmembrane protease, serine 12,
• Gene location: 12q13.12 (72282538: 71395942)     Exons: 10     NC_000001.11

Protein Summary

• Protein general information: Q86WS5  
  • Name: Transmembrane protease serine 12 (EC 3.4.21. )
  • Length: 348  
  • Mass: 38605
  • Tissue specificity: In testis, expressed in spermatocytes and spermatids. Expressed in colorectal cancer (at protein level). {ECO
• Sequence:

  MRLGLLSVALLFVGSSHLYSDHYSPSGRHRLGPSPEPAASSQQAEAVRKRLRRRREGGAHAEDCGTAPLKDVLQG
  SRIIGGTEAQAGAWPWVVSLQIKYGRVLVHVCGGTLVRERWVLTAAHCTKDASDPLMWTAVIGTNNIHGRYPHTK
  KIKIKAIIIHPNFILESYVNDIALFHLKKAVRYNDYIQPICLPFDVFQILDGNTKCFISGWGRTKEEGNATNILQ
  DAEVHYISREMCNSERSYGGIIPNTSFCAGDEDGAFDTCRGDSGGPLMCYLPEYKRFFVMGITSYGHGCGRRGFP
  GVYIGPSFYQKWLTEHFFHASTQGILTINILRGQILIALCFVILLATT

• Structural information:
  • Protein Domains: (78..31-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • STRING: ENSP00000381476
• Other Databases: GeneCards:  TMPRSS12  Malacards:  TMPRSS12

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:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray