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SLC11A2 R416C
Stable Identifier
R-HSA-5623758
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 R416C [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 Gene (Homo sapiens):hsa:4891 SLC11A2
Monarch:4891 SLC11A2
NCBI Gene:4891 SLC11A2
OMIM:600523 SLC11A2
UCSC:P49281 SLC11A2
Reference Transcript
RefSeq:NM_001174129.1 SLC11A2
RefSeq:NM_001174127.1 SLC11A2
RefSeq:NM_001174126.1 SLC11A2
RefSeq:XM_005268911.3 SLC11A2
RefSeq:NM_001174128.1 SLC11A2
RefSeq:NM_001174130.1 SLC11A2
RefSeq:XM_011538405.2 SLC11A2
RefSeq:XM_017019355.1 SLC11A2
RefSeq:XM_011538404.2 SLC11A2
RefSeq:NM_001174125.1 SLC11A2
RefSeq:NM_000617.2 SLC11A2
Other Identifiers
0003940647
11744052_a_at
11744053_a_at
11759690_at
11759691_a_at
11764275_s_at
16764620
203123_s_at
203124_s_at
203125_x_at
210047_at
32139
32140
35320_at
4891
5F0L
5F0M
5F0P
7963212
A0A0X8GKR4
A_24_P381494
CCDS53791
CCDS53792
CCDS53793
CCDS8805
ENSG00000110911
ENSP00000262051
ENSP00000262052
ENSP00000378364
ENSP00000442810
ENSP00000444542
ENSP00000446769
ENSP00000449008
ENSP00000449200
ENST00000262051
ENST00000262052
ENST00000394904
ENST00000541174
ENST00000545993
ENST00000546636
ENST00000547198
ENST00000547688
EntrezGene:4891
g10835168_3p_a_at
g3170363_3p_a_at
g3211761_3p_at
GE53115
GO:0005215
GO:0005375
GO:0005381
GO:0005384
GO:0005515
GO:0005634
GO:0005737
GO:0005739
GO:0005741
GO:0005765
GO:0005768
GO:0005769
GO:0005773
GO:0005886
GO:0005887
GO:0005903
GO:0006778
GO:0006779
GO:0006783
GO:0006810
GO:0006811
GO:0006824
GO:0006825
GO:0006826
GO:0006828
GO:0006879
GO:0007611
GO:0009986
GO:0010008
GO:0010039
GO:0012505
GO:0015078
GO:0015086
GO:0015087
GO:0015093
GO:0015094
GO:0015295
GO:0015639
GO:0015684
GO:0015692
GO:0015992
GO:0016020
GO:0016021
GO:0016324
GO:0031410
GO:0031526
GO:0031902
GO:0034755
GO:0035434
GO:0045177
GO:0045178
GO:0046870
GO:0046915
GO:0048471
GO:0048813
GO:0048821
GO:0055037
GO:0055072
GO:0060586
GO:0070574
GO:0070627
GO:0070826
GO:0071421
GO:1902600
GO:1903874
HGNC:10908
HPA032139
HPA032140
Hs.505545
Hs.57435.0.S2_3p_a_at
ILMN_1745034
L37347_at
NM_000617
NM_001174125
NM_001174126
NM_001174127
NM_001174128
NM_001174129
NM_001174130
NP_000608
NP_001167596
NP_001167597
NP_001167598
NP_001167599
NP_001167600
NP_001167601
NR_033421
NR_033422
PF01566
PH_hs_0003684
PR00447
SLC11A2
SLC11A2-201
SLC11A2-202
SLC11A2-203
SLC11A2-204
SLC11A2-205
SLC11A2-207
SLC11A2-209
SLC11A2-212
TC12001499.hg
TC12002877.hg
uc001rxc.5
uc001rxe.5
uc001rxh.3
uc001rxi.4
uc001rxk.2
uc010smx.3
uc058nza.1
uc058nzc.1
UPI0000001222
UPI000002AFC0
UPI00001FC234
UPI00001FC238
XM_005268911
XM_005268912
XM_011538404
XM_011538405
XM_017019355
XP_005268968
XP_005268969
XP_011536706
XP_011536707
XP_016874844
XR_001748720
XR_001748721
XR_001748722
XR_001748723
XR_429104
XR_944555
Participant Of
hasMember
SLC11A2 mutants [plasma membrane]
Other forms of this molecule
SLC11A2 G212V [plasma membrane]
SLC11A2 310delCTT [plasma membrane]
SLC11A2 V114del [plasma membrane]
SLC11A2 E399D [plasma membrane]
SLC11A2 [plasma membrane]
Modified Residues
Name
L-arginine 416 replaced with L-cysteine
Coordinate
416
PsiMod HEY
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
hypochromic microcytic anemia
0050642
Cross References
RefSeq
NP_001167598.1
,
NP_001167597.1
,
XP_016874844.1
,
NP_001167600.1
,
NP_001167596.1
,
XP_005268968.1
,
NP_000608.1
,
XP_011536707.1
,
NP_001167599.1
,
NP_001167601.1
,
XP_011536706.1
ZINC - Substances
NRAM2_HUMAN
GeneCards
P49281
DOCK Blaster
5F0P
,
5F0M
,
5F0L
ZINC target
P49281
PRO
P49281
Orphanet
15298
ZINC - Predictions - Purchasable
NRAM2_HUMAN
HMDB Protein
HMDBP02405
PDB
5F0L
,
5F0P
,
5F0M
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