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SLC26A2 N425D [plasma membrane]
Stable Identifier
R-HSA-3621698
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sulfate transporter, S26A2_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective SLC26A2 causes chondrodysplasias (Homo sapiens)
Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol (Homo sapiens)
SLC26A2 mutants [plasma membrane] (Homo sapiens)
SLC26A2 N425D [plasma membrane] (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC26A2 causes chondrodysplasias (Homo sapiens)
Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol (Homo sapiens)
SLC26A2 mutants [plasma membrane] (Homo sapiens)
SLC26A2 N425D [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P50443 SLC26A2
Gene Names
SLC26A2, DTD, DTDST
Chain
chain:1-739
Reference Genes
BioGPS Gene:1836 SLC26A2
COSMIC (genes):SLC26A2 SLC26A2
CTD Gene:1836 SLC26A2
dbSNP Gene:1836 SLC26A2
ENSEMBL:ENSG00000155850.9 SLC26A2
HGNC:10994 SLC26A2
KEGG Gene (Homo sapiens):1836 SLC26A2
Monarch:1836 SLC26A2
NCBI Gene:1836 SLC26A2
OMIM:606718 SLC26A2
UCSC:P50443 SLC26A2
Reference Transcript
RefSeq:XM_017009191.1 SLC26A2
RefSeq:NM_000112.3 SLC26A2
Other Identifiers
0001170541
11720105_a_at
11720106_a_at
11754594_a_at
11754595_s_at
16991010
1836
205097_PM_at
205097_at
224959_PM_at
224959_at
224963_PM_at
224963_at
2835301
2835307
2835308
2835309
2835310
2835311
2835312
2835313
2835314
2835315
2835316
2835317
39637_at
53061_at
53999_at
8109194
A_14_P121945
A_23_P250951
A_33_P3277447
GE58951
GE661107
GE87043
GO:0001503
GO:0005215
GO:0005576
GO:0005615
GO:0005886
GO:0005887
GO:0006790
GO:0006811
GO:0008271
GO:0008272
GO:0015106
GO:0015108
GO:0015116
GO:0015701
GO:0016020
GO:0016021
GO:0016324
GO:0019531
GO:0019532
GO:0031528
GO:0043226
GO:0050428
GO:0055085
GO:0055086
GO:0070062
GO:1901135
GO:1902358
GO:1902476
HMNXSV003026989
Hs.29981.0.S2_3p_at
Hs.302738.0.S1_3p_at
Hs.302738.0.S2_3p_at
ILMN_1801491
PH_hs_0002583
PH_hs_0015635
TC05000825.hg
U14528_at
Participates
as a member of
SLC26A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC26A2 R178* [plasma membrane]
SLC26A2 G255E [plasma membrane]
SLC26A2 L483P [plasma membrane]
SLC26A2 [plasma membrane]
Modified Residues
Name
L-arginine 425 replaced with L-aspartic acid
Coordinate
425
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name
Identifier
Synonyms
achondrogenesis type IB
DOID:0080055
achondrogenesis Fraccaro type
Cross References
RefSeq
NP_000103.2
,
XP_016864680.1
Guide to Pharmacology - Targets
1098
OpenTargets
ENSG00000155850
HPA
ENSG00000155850-SLC26A2
GeneCards
P50443
Ensembl
ENSG00000155850
,
ENST00000286298
,
ENSP00000286298
PRO
P50443
Pharos - Targets
P50443
Orphanet
15315
HMDB Protein
HMDBP02805
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