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SLC11A2 R416C [plasma membrane]
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
ENSEMBL_homo_sapiens_GENE:ENSG00000110911.17 SLC11A2
HGNC:10908 SLC11A2
KEGG Gene (Homo sapiens):4891 SLC11A2
Monarch:4891 SLC11A2
NCBI Gene:4891 SLC11A2
OMIM:600523 SLC11A2
UCSC:P49281 SLC11A2
Reference Transcript
RefSeq:NM_001174129.1 SLC11A2
RefSeq:NM_001174125.1 SLC11A2
RefSeq:XM_011538404.2 SLC11A2
RefSeq:NM_000617.2 SLC11A2
RefSeq:XM_005268911.3 SLC11A2
RefSeq:XM_017019355.1 SLC11A2
RefSeq:NM_001174128.1 SLC11A2
RefSeq:XM_011538405.2 SLC11A2
RefSeq:NM_001174127.1 SLC11A2
RefSeq:NM_001174126.1 SLC11A2
RefSeq:NM_001174130.1 SLC11A2
Other Identifiers
11744052_a_at
11744053_a_at
11759527_at
11759690_at
11759691_a_at
11764275_s_at
16764620
203123_PM_s_at
203123_s_at
203124_PM_s_at
203124_s_at
203125_PM_x_at
203125_x_at
210047_PM_at
210047_at
3454577
3454578
3454579
3454580
3454581
3454582
3454583
3454584
3454585
3454587
3454588
3454589
3454590
3454591
3454592
3454595
3454597
3454598
3454600
3454603
3454606
3454607
3454608
3454610
3454612
3454614
3454616
3454617
3454619
3454626
3454627
3454628
3454629
3454630
3454631
3454632
3454633
3454634
3454636
3454637
35320_at
4891
7963212
A_24_P381494
GE53115
GO:0001666
GO:0002376
GO:0003032
GO:0005215
GO:0005375
GO:0005381
GO:0005384
GO:0005385
GO:0005515
GO:0005576
GO:0005634
GO:0005737
GO:0005739
GO:0005741
GO:0005764
GO:0005765
GO:0005768
GO:0005769
GO:0005770
GO:0005773
GO:0005794
GO:0005802
GO:0005886
GO:0006778
GO:0006779
GO:0006783
GO:0006811
GO:0006824
GO:0006825
GO:0006826
GO:0006828
GO:0006879
GO:0006919
GO:0007611
GO:0009986
GO:0010008
GO:0010039
GO:0015086
GO:0015087
GO:0015093
GO:0015094
GO:0015099
GO:0015100
GO:0015293
GO:0015295
GO:0015675
GO:0015676
GO:0015692
GO:0016020
GO:0016324
GO:0022890
GO:0030001
GO:0030154
GO:0031410
GO:0031526
GO:0031901
GO:0031902
GO:0033212
GO:0034599
GO:0034755
GO:0035434
GO:0035444
GO:0043226
GO:0045177
GO:0045178
GO:0046870
GO:0046873
GO:0046915
GO:0048471
GO:0048813
GO:0048821
GO:0048856
GO:0050877
GO:0051649
GO:0055037
GO:0055038
GO:0055065
GO:0055085
GO:0060586
GO:0070574
GO:0070826
GO:0071421
GO:0071577
GO:1902600
GO:1903561
GO:1905394
HMNXSV003057652
Hs.57435.0.S2_3p_a_at
ILMN_1745034
L37347_at
PH_hs_0003684
TC12001499.hg
TC12002877.hg
g10835168_3p_a_at
g3170363_3p_a_at
g3211761_3p_at
Participates
as a member of
SLC11A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC11A2 G212V [plasma membrane]
SLC11A2 L104_P142del [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
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
hypochromic microcytic anemia
DOID:0050642
Cross References
RefSeq
XP_011536706.1
,
NP_001167596.1
,
XP_005268968.1
,
XP_016874844.1
,
NP_001167600.1
,
NP_000608.1
,
XP_011536707.1
,
NP_001167601.1
,
NP_001167598.1
,
NP_001167599.1
,
NP_001167597.1
Guide to Pharmacology - Targets
967
OpenTargets
ENSG00000110911
ZINC - Substances
NRAM2_HUMAN
ZINC target
P49281
PRO
P49281
PDB
5F0P
,
7BLQ
,
5F0L
,
7BLO
,
5F0M
GeneCards
P49281
HPA
ENSG00000110911-SLC11A2
Ensembl
ENST00000547198
,
ENSP00000446769
,
ENST00000547688
,
ENST00000546636
,
ENST00000541174
,
ENST00000545993
,
ENST00000644495
,
ENST00000262052
,
ENSP00000378364
,
ENSP00000494107
,
ENSP00000442810
,
ENSG00000110911
,
ENST00000394904
,
ENSP00000262052
,
ENSP00000449200
,
ENSP00000449008
,
ENSP00000444542
Pharos - Targets
P49281
Orphanet
15298
ZINC - Predictions - Purchasable
NRAM2_HUMAN
HMDB Protein
HMDBP02405
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