SLC11A2 Chromosome 12
Solute carrier family 11 member 2
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What This Gene Does
This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Solute carrier family 11
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000110911
Associated Conditions (4)
Microcytic anemia with liver iron overload
Uveal melanoma
Familial cancer of breast
SLC11A2-related disorder
Key Variants
RS139057918
Conflicting classifications of pathogenicity
Microcytic anemia with liver iron overload, Uveal melanoma, Familial cancer of breast
Health Risk
RS145155499
Conflicting classifications of pathogenicity
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS148582995
Conflicting classifications of pathogenicity
Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload
Health Risk
RS370750890
Conflicting classifications of pathogenicity
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS754854640
Conflicting classifications of pathogenicity
Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload
Health Risk
RS774796819
Conflicting classifications of pathogenicity
Health Risk
RS2499379582
Likely pathogenic
Health Risk
RS121918365
Pathogenic
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS121918366
Pathogenic
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS121918367
Pathogenic
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS1399911403
Pathogenic
Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
Health Risk
RS1592380743
Pathogenic
Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139057918 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia with liver iron overload, Uveal melanoma, Familial cancer of breast |
| RS145155499 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS148582995 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload |
| RS370750890 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS754854640 | Health Risk | Conflicting classifications of pathogenicity | Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload |
| RS774796819 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2499379582 | Health Risk | Likely pathogenic | — |
| RS121918365 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS121918366 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS121918367 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS1399911403 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS1592380743 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, SLC11A2-related disorder, Microcytic anemia with liver iron overload |
| RS2136280484 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |
| RS2499150283 | Health Risk | Pathogenic | Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload |