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SLC11A2 V114del [plasma membrane]
Stable Identifier
R-HSA-5623747
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
DCT1, NRAMP2, Natural resistance-associated macrophage protein 2, NRAM2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) (Homo sapiens)
Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol (Homo sapiens)
SLC11A2 mutants [plasma membrane] (Homo sapiens)
SLC11A2 V114del [plasma membrane] (Homo sapiens)
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
RefSeq:XM_011538405.2 SLC11A2
RefSeq:NM_001174127.1 SLC11A2
RefSeq:XM_017019355.1 SLC11A2
RefSeq:NM_001174126.1 SLC11A2
RefSeq:NM_001174129.1 SLC11A2
RefSeq:NM_001174125.1 SLC11A2
RefSeq:NM_001174130.1 SLC11A2
RefSeq:NM_001174128.1 SLC11A2
RefSeq:XM_005268911.3 SLC11A2
RefSeq:XM_011538404.2 SLC11A2
RefSeq:NM_000617.2 SLC11A2
Participates
as a member of
SLC11A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC11A2 [plasma membrane]
SLC11A2 E399D [plasma membrane]
SLC11A2 R416C [plasma membrane]
SLC11A2 L104_P142del [plasma membrane]
SLC11A2 G212V [plasma membrane]
Modified Residues
Name
Deletion of residues 114 to 114
Disease
Name
Identifier
Synonyms
hypochromic microcytic anemia
DOID:0050642
Cross References
Guide to Pharmacology - Targets
967
OpenTargets
ENSG00000110911
ENSEMBL
ENSP00000262052
,
ENST00000262052
,
ENST00000644495
,
ENSP00000449008
,
ENSP00000449200
,
ENST00000394904
,
ENSP00000444542
,
ENSP00000494107
,
ENSP00000446769
,
ENSP00000378364
,
ENST00000547198
,
ENST00000541174
,
ENST00000545993
,
ENSP00000442810
,
ENSG00000110911
,
ENST00000546636
,
ENST00000547688
ZINC - Substances
NRAM2_HUMAN
ZINC target
P49281
PRO
P49281
GlyGen
P49281
PDB
7BLQ
,
5F0P
,
5F0L
,
7BLO
,
5F0M
HPA
ENSG00000110911-SLC11A2
GeneCards
SLC11A2
Pharos - Targets
P49281
Orphanet
SLC11A2
ZINC - Predictions - Purchasable
NRAM2_HUMAN
HMDB Protein
HMDBP02405
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