TMPRSS6 Chromosome 22
Transmembrane serine protease 6
Upload your DNA to see your personal genotypes for variants in TMPRSS6.
What This Gene Does
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]
Gene Info
Gene Group
Type II transmembrane serine proteases
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000187045
Associated Conditions (5)
Microcytic anemia
TMPRSS6-related disorder
Iron-refractory iron deficiency anemia
Inborn genetic diseases
Abnormality of metabolism/homeostasis
Key Variants
RS113803353
Conflicting classifications of pathogenicity
Microcytic anemia, TMPRSS6-related disorder, Microcytic anemia
Health Risk
RS116092750
Conflicting classifications of pathogenicity
Iron-refractory iron deficiency anemia, TMPRSS6-related disorder, Iron-refractory iron deficiency anemia
Health Risk
RS116310349
Conflicting classifications of pathogenicity
Microcytic anemia, TMPRSS6-related disorder, Inborn genetic diseases
Health Risk
RS138915369
Conflicting classifications of pathogenicity
Microcytic anemia, Inborn genetic diseases, Microcytic anemia
Health Risk
RS139105452
Conflicting classifications of pathogenicity
Microcytic anemia, Microcytic anemia
Health Risk
RS139563689
Conflicting classifications of pathogenicity
Microcytic anemia, Microcytic anemia
Health Risk
RS143244650
Conflicting classifications of pathogenicity
TMPRSS6-related disorder, TMPRSS6-related disorder
Health Risk
RS145053404
Conflicting classifications of pathogenicity
Iron-refractory iron deficiency anemia, Inborn genetic diseases, Iron-refractory iron deficiency anemia
Health Risk
RS145073875
Conflicting classifications of pathogenicity
Health Risk
RS146266448
Conflicting classifications of pathogenicity
Microcytic anemia, Microcytic anemia
Health Risk
RS147397866
Conflicting classifications of pathogenicity
Microcytic anemia, TMPRSS6-related disorder, Microcytic anemia
Health Risk
RS150521260
Conflicting classifications of pathogenicity
Microcytic anemia, Microcytic anemia
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113803353 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, TMPRSS6-related disorder, Microcytic anemia |
| RS116092750 | Health Risk | Conflicting classifications of pathogenicity | Iron-refractory iron deficiency anemia, TMPRSS6-related disorder, Iron-refractory iron deficiency anemia |
| RS116310349 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, TMPRSS6-related disorder, Inborn genetic diseases |
| RS138915369 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Inborn genetic diseases, Microcytic anemia |
| RS139105452 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS139563689 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS143244650 | Health Risk | Conflicting classifications of pathogenicity | TMPRSS6-related disorder, TMPRSS6-related disorder |
| RS145053404 | Health Risk | Conflicting classifications of pathogenicity | Iron-refractory iron deficiency anemia, Inborn genetic diseases, Iron-refractory iron deficiency anemia |
| RS145073875 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146266448 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS147397866 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, TMPRSS6-related disorder, Microcytic anemia |
| RS150521260 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS185482276 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS188371820 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201148397 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS370192027 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS375189210 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Iron-refractory iron deficiency anemia, Microcytic anemia |
| RS375234781 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS375681801 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS377665035 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS546574834 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS964576902 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia, Microcytic anemia |
| RS137853120 | Health Risk | Likely pathogenic | Microcytic anemia, Iron-refractory iron deficiency anemia, TMPRSS6-related disorder |
| RS137853121 | Health Risk | Likely pathogenic | Iron-refractory iron deficiency anemia, TMPRSS6-related disorder, Iron-refractory iron deficiency anemia |
| RS1384933966 | Health Risk | Likely pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS2146016503 | Health Risk | Likely pathogenic | — |
| RS2146038092 | Health Risk | Likely pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2146057214 | Health Risk | Likely pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS2517768538 | Health Risk | Likely pathogenic | TMPRSS6-related disorder, TMPRSS6-related disorder |
| RS1199193462 | Health Risk | Pathogenic | — |
| RS137853122 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS1569024289 | Health Risk | Pathogenic | Microcytic anemia, Microcytic anemia |
| RS1927509977 | Health Risk | Pathogenic | Microcytic anemia, Microcytic anemia |
| RS1930010425 | Health Risk | Pathogenic | Microcytic anemia, Microcytic anemia |
| RS267607121 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS387907018 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS536767538 | Health Risk | Pathogenic | — |
| RS767094129 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS775869554 | Health Risk | Pathogenic | Microcytic anemia, Microcytic anemia |
| RS776912815 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205058 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205059 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205060 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS869320724 | Health Risk | Pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS137853119 | Health Risk | Pathogenic/Likely pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS137853123 | Health Risk | Pathogenic/Likely pathogenic | Microcytic anemia, Iron-refractory iron deficiency anemia, Microcytic anemia |
| RS918426003 | Health Risk | Pathogenic/Likely pathogenic | Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |