Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4891
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 11 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC11A2
Synonyms (NCBI Gene) Gene synonyms aliases
AHMIO1, DCT1, DMT1, NRAMP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AHMIO1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004505 hsa-let-7d-5p qRT-PCR, Luciferase reporter assay, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IBA 21873635
GO:0005375 Function Copper ion transmembrane transporter activity IDA 12734107
GO:0005381 Function Iron ion transmembrane transporter activity IBA 21873635
GO:0005381 Function Iron ion transmembrane transporter activity TAS
GO:0005384 Function Manganese ion transmembrane transporter activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600523 10908 ENSG00000110911
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hypochromic Microcytic, With Iron Overload rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
16160008, 16439678
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Hemochromatosis Hemochromatosis rs74315323, rs1422879641, rs80338880, rs80338877, rs80338879, rs80338889, rs104893662, rs28939076, rs104893663, rs104893670, rs878854984, rs104893671, rs104893672, rs104893673, rs104893664
View all (30 more)
11439223
Hereditary hemochromatosis Hereditary hemochromatosis rs111033563, rs944843686, rs80338877, rs80338882, rs80338888, rs80338891, rs80338878, rs146519482, rs786204108, rs749553271, rs765804978, rs773050231, rs1426704853, rs1554154042, rs1220336558
View all (14 more)
11439223
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 16160008, 26572590, 35730874, 39531753
Anemia Hemolytic Associate 22509377
Anemia Hypochromic Associate 39531753
Anemia hypochromic microcytic Associate 16160008, 39531753
Anemia Iron Deficiency Stimulate 11897618
Anemia Iron Deficiency Associate 29110513
Carcinogenesis Associate 27546461
Carcinoma Embryonal Associate 16232120
Carcinoma Hepatocellular Associate 30527495
Celiac Disease Associate 15929194