Gene Gene information from NCBI Gene database.
Entrez ID 4891
Gene name Solute carrier family 11 member 2
Gene symbol SLC11A2
Synonyms (NCBI Gene)
AHMIO1DCT1DMT1NRAMP2
Chromosome 12
Chromosome location 12q13.12
Summary 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.
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121918366 G>A,C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121918367 C>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1592380743 C>T Likely-pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
725
miRTarBase ID miRNA Experiments Reference
MIRT004505 hsa-let-7d-5p qRT-PCRLuciferase reporter assayWestern blot 20410187
MIRT016064 hsa-miR-374b-5p Sequencing 20371350
MIRT016623 hsa-miR-484 Sequencing 20371350
MIRT016685 hsa-miR-423-3p Sequencing 20371350
MIRT023294 hsa-miR-122-5p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
119
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEP 18419598
GO:0003032 Process Detection of oxygen IEP 18419598
GO:0003032 Process Detection of oxygen IEP 18419598
GO:0005375 Function Copper ion transmembrane transporter activity IDA 12734107
GO:0005381 Function Iron ion transmembrane transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600523 10908 ENSG00000110911
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49281
Protein name Natural resistance-associated macrophage protein 2 (NRAMP 2) (Divalent cation transporter 1) (Divalent metal transporter 1) (DMT-1) (Solute carrier family 11 member 2)
Protein function 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 decreas
PDB 5F0L , 5F0M , 5F0P , 7BLO , 7BLQ , 9F6N , 9F6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01566 Nramp 90 474 Natural resistance-associated macrophage protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed in erythroid progenitors. {ECO:0000269|PubMed:29317744, ECO:0000269|PubMed:9642100}.
Sequence
Sequence length 568
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Ferroptosis
Mineral absorption
Alzheimer disease
Parkinson disease
  Metal ion SLC transporters
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
Iron uptake and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcytic anemia with liver iron overload Pathogenic rs121918365, rs1399911403, rs121918366, rs2136280484, rs121918367, rs2499150283, rs1592380743 RCV000009642
RCV000009643
RCV000009644
RCV000009645
RCV000009646
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC11A2-related disorder Pathogenic rs1592380743 RCV003898004
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 24894955
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 22371024
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 29610275
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21276595
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia BEFREE 10758409, 11005792, 16085548, 17510944, 21871825, 22509377, 26572590, 29023457
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia LHGDN 15459009, 16439678, 17510944
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia Pubtator 16160008, 26572590, 35730874, 39531753 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic Hemolytic anemia Pubtator 22509377 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Hypochromic Hypochromic anemia Pubtator 39531753 Associate
★☆☆☆☆
Found in Text Mining only
Anemia hypochromic microcytic Hypochromic microcytic anemia Pubtator 16160008, 39531753 Associate
★☆☆☆☆
Found in Text Mining only