Entity Details

Primary name TMPRSS6
Entity type gene
Source Source Link

Details

PrimaryID164656
RefseqGeneNG_012856
SymbolTMPRSS6
Nametransmembrane serine protease 6
Chromosome22
Location22q12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTMPS6_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0004252 serine-type endopeptidase activity
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006879 cellular iron ion homeostasis
GO:0016021 integral component of membrane
GO:0022617 extracellular matrix disassembly
GO:0030514 negative regulation of BMP signaling pathway
GO:0030574 collagen catabolic process
GO:0033619 membrane protein proteolysis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0055072 iron ion homeostasis
GO:0097264 self proteolysis

Diseases

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Disease IDSourceNameDescription
206200 OMIMIron-refractory iron deficiency anemia (IRIDA)Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. The disease is caused by variants affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450).