SLC11A2 L104_P142del [plasma membrane]

Stable Identifier
R-HSA-5623707
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
DCT1, NRAMP2, Natural resistance-associated macrophage protein 2, NRAM2_HUMAN, DMT1, NM_000617.3(SLC11A2):c.310-5_310-3del
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
16160008 Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)

d'Apolito, M, Camaschella, C, Servedio, V, Piga, A, Cimmino, F, Iolascon, A

Blood 2006
External Reference Information
External Reference
UniProt:P49281 SLC11A2
Gene Names
SLC11A2, DCT1, DMT1, NRAMP2, OK/SW-cl.20
Chain
chain:1-568
Reference Genes
BioGPS Gene:4891 SLC11A2
COSMIC (genes):SLC11A2 SLC11A2
CTD Gene:4891 SLC11A2
dbSNP Gene:4891 SLC11A2
ENSEMBL:ENSG00000110911 SLC11A2
HGNC:10908 SLC11A2
KEGG:hsa:4891 SLC11A2
Monarch:4891 SLC11A2
NCBI Gene:4891 SLC11A2
OMIM:600523 SLC11A2
UCSC:P49281 SLC11A2
Reference Transcript
Participates
as a member of
Other forms of this molecule
SLC11A2 [plasma membrane]
SLC11A2 E399D [plasma membrane]
SLC11A2 V114del [plasma membrane]
SLC11A2 R416C [plasma membrane]
SLC11A2 G212V [plasma membrane]
Modified Residues
Name
Deletion of residues 104 to 142
Disease
Cross References
Guide to Pharmacology - Targets
967
OpenTargets
ENSEMBL
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
HPA
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
ClinVar
HMDB Protein
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