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Gene id |
4891 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
SLC11A2 Gene UCSC Ensembl |
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Aliases |
AHMIO1, DCT1, DMT1, NRAMP2 |
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Gene name |
solute carrier family 11 member 2 |
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Alternate names |
natural resistance-associated macrophage protein 2, DMT-1, NRAMP 2, divalent cation transporter 1, solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2, solute carrier family 11 (proton-coupled divalent metal ion transporters), me, |
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Gene location |
12q13.12 (51028334: 50952262) Exons: 24 NC_000019.10
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|
Gene summary(Entrez) |
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.
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OMIM |
600523 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Hemochromatosis | GAD: 15223008 |
| Hypochromic microcytic anemia | KEGG: H01196 |
| Alzheimer's disease | GAD: 15644277 |
| Spontaneous abortion | GAD: 20587610 |
| Male factor infertility | MIK: 15355847 |
| Role in male infertility | MIK: 15355847 |
| Teratozoospermia | MIK: 17327269 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 15355847 |
Role in ma
le inferti
lity
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|
|
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Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|