TMPRSS6

Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene.^[5]

TMPRSS6
Identifiers
Aliases	TMPRSS6, IRIDA, transmembrane protease, serine 6, matriptase-2, transmembrane serine protease 6
External IDs	OMIM: 609862; MGI: 1919003; HomoloGene: 12408; GeneCards: TMPRSS6; OMA:TMPRSS6 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.3 Start 37,065,436 bp[1] End 37,109,563 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E1 Start 78,323,867 bp[2] End 78,352,834 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver lactiferous duct pancreatic ductal cell pituitary gland anterior pituitary right testis cardia left testis putamen secondary oocyte Top expressed in left lobe of liver otolith organ utricle olfactory epithelium gallbladder vestibular sensory epithelium vestibular membrane of cochlear duct embryo embryo temporal muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type peptidase activity peptidase activity protein binding hydrolase activity serine-type endopeptidase activity metalloendopeptidase activity Cellular component membrane integral component of membrane intracellular anatomical structure extracellular space plasma membrane Biological process membrane protein proteolysis intracellular signal transduction angiogenesis fibrinolysis negative regulation of BMP signaling pathway self proteolysis extracellular matrix organization negative regulation of transcription, DNA-templated proteolysis cellular iron ion homeostasis iron ion homeostasis negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II extracellular matrix disassembly collagen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 164656 71753 Ensembl ENSG00000187045 ENSMUSG00000016942 UniProt Q8IU80 Q9DBI0 RefSeq (mRNA) NM_001289000 NM_001289001 NM_153609 NM_027902 NM_001355601 RefSeq (protein) NP_001275929 NP_001275930 NP_705837 NP_001361433 NP_082178 NP_001342530 Location (UCSC) Chr 22: 37.07 – 37.11 Mb Chr 15: 78.32 – 78.35 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Based on twin studies, mutations in TMPRSS6 gene have a correlation with iron deficiency predisposition.^[6]

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.^[5]