solute carrier family 11 member 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalIron metabolism disorders - NOT common HFE mutations
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalmicrocytic anemia with liver iron overload
hypochromic microcytic anemia
ovarian neoplasm
hereditary disease
atrial fibrillation
breast cancer
breast carcinoma
ovarian carcinoma
ovarian cancer
infection
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Natural resistance-associated macrophage protein 2
Proton-coupled metal ion symporter operating with a proton to metal ion stoichiometry of 1:1 (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Selectively transports various divalent metal cations, in decreasing affinity: Cd(2+) > Fe(2+) > Co(2+), Mn(2+) >> Zn(2+), Ni(2+), VO(2+) (PubMed:17109629, PubMed:17293870, PubMed:22736759, PubMed:25326704, PubMed:25491917). Essential for maintenance of iron homeostasis by modulating intestinal absorption of dietary Fe(2+) and TF-associated endosomal Fe(2+) transport in erythroid precursors and other cells (By similarity). Enables Fe(2+) and Mn(2+) ion entry into mitochondria, and is thus expected to promote mitochondrial heme synthesis, iron-sulfur cluster biogenesis and antioxidant defense (By similarity) (PubMed:24448823). Can mediate uncoupled fluxes of either protons or metal ions
SLC11A2 · P49281
Mean pLDDT
80.6/ 100
Confident
568 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
