• Gene id: 164656

Gene Summary

• Gene Symbol: TMPRSS6   Gene   UCSC   Ensembl
• Aliases: IRIDA, MT2
• Gene name: transmembrane serine protease 6
• Alternate names: transmembrane protease serine 6, matriptase-2, membrane-bound mosaic serine proteinase matriptase-2, transmembrane protease, serine 6, type II transmembrane serine protease 6,
• Gene location: 22q12.3 (37110624: 37065435)     Exons: 23     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript

Protein Summary

• Protein general information: Q8IU80  
  • Name: Transmembrane protease serine 6 (EC 3.4.21. ) (Matriptase 2)
  • Length: 811  
  • Mass: 90000
  • Tissue specificity: Liver specific. {ECO
• Sequence:

  MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYF
  LGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTC
  FFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYS
  YVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVE
  VLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYYSPQTHCSWHLTVPSL
  DYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAERIPVVATAGITINFTSQISLTGPGVRVHYG
  LYNQSDPCPGEFLCSVNGLCVPACDGVKDCPNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQC
  QEGVPCGTFTFQCEDRSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRH
  ICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYHEEDSHDYDVALLQLD
  HPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNALQKVDVQLIPQDLCSEVYRYQVTPRMLCAGY
  RKGKKDACQGDSGGPLVCKALSGRWFLAGLVSWGLGCGRPNYFGVYTRITGVISWIQQVVT

• Structural information:
  • Protein Domains: (84..20-)
    (/note="SEA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00188-)
    (213..33-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (335..45-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (-)
  • Interpro: IPR000859  IPR036055  IPR002172  IPR017118  IPR009003   IPR001314  IPR000082  IPR036364  IPR035914  IPR001254  IPR018114  IPR033116  
  • Prosite: PS01180 PS01209 PS50068 PS50024 PS50240 PS00134 PS00135
  • CDD: cd00041 cd00112 cd00190
  • STRING: ENSP00000371211
• Other Databases: GeneCards:  TMPRSS6  Malacards:  TMPRSS6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055072	iron ion homeostasis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0033619	membrane protein proteolysis	IMP	biological process
GO:0097264	self proteolysis	IMP	biological process
GO:0055072	iron ion homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030574	collagen catabolic process	TAS	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0006879	cellular iron ion homeostasis	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Iron-refractory iron deficiency anemia	KEGG:H01278
Iron-refractory iron deficiency anemia	KEGG:H01278
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq