TMPRSS6 Gene Summary [Human]
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 variants. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | TMPRSS6 |
| Official Name | transmembrane serine protease 6 [Source:HGNC Symbol;Acc:HGNC:16517] |
| Ensembl ID | ENSG00000187045 |
| Bio databases IDs | |
| Aliases | transmembrane serine protease 6, matriptase-2 |
| Synonyms | 1300008A22Rik, IRIDA, MATRIPTASE2, MT2, transmembrane serine protease 6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMPRSS6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Trypsin-like serine protease
- trypsin
- Tryp_SPc
- serine endopeptidase
- CUB
- peptidase
- LDLa
- SEA domain
- Domain of unknown function (DUF1986)
- protein binding
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the TMPRSS6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- alopecia
- neoplasia
- anemia
- prostate cancer
- gastric adenocarcinoma
- gastric epithelial cancer
- iron deficiency
- iron-refractory iron deficiency anemia
- metastasis
- microcytic anemia
role in cell
- proliferation
- expression in
- phosphorylation in
- apoptosis
- production in
- cell cycle progression
- quantity
- migration
- invasion by
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- Extracellular Space
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMPRSS6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of BMP signaling pathway
- cellular iron ion homeostasis
- self proteolysis
- multicellular organismal iron ion homeostasis
- negative regulation of transcription, DNA-dependent
- extracellular matrix disassembly
- BMP signaling pathway
- membrane protein proteolysis
- collagen catabolic process
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- extracellular space
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- serine-type endopeptidase activity
- metalloendopeptidase activity