Identity
HGNC
LOCATION
22q12.3
LOCUSID
ALIAS
IRIDA,MT2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 164656
MIM: 609862
HGNC: 16517
Ensembl: ENSG00000187045
Variants:
dbSNP: 164656
ClinVar: 164656
TCGA: ENSG00000187045
COSMIC: TMPRSS6
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Degradation of the extracellular matrix | REACTOME | R-HSA-1474228 |
| Collagen degradation | REACTOME | R-HSA-1442490 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37578538 | 2024 | Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness. | 0 |
| 37605822 | 2024 | Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres. | 0 |
| 37951373 | 2024 | Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders. | 0 |
| 38072851 | 2024 | The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review. | 1 |
| 38252872 | 2024 | A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo. | 0 |
| 38341535 | 2024 | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study). | 0 |
| 37578538 | 2024 | Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness. | 0 |
| 37605822 | 2024 | Anaemia and iron deficiency associate with polymorphism TMPRSS6 rs855791 in Brazilian children attending day care centres. | 0 |
| 37951373 | 2024 | Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders. | 0 |
| 38072851 | 2024 | The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review. | 1 |
| 38252872 | 2024 | A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo. | 0 |
| 38341535 | 2024 | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study). | 0 |
| 36261087 | 2023 | TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia. | 0 |
| 38309700 | 2023 | Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population. | 0 |
| 36261087 | 2023 | TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia. | 0 |
Citation
Dessen P
TMPRSS6 (transmembrane serine protease 6)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46083/tmprss6
