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SLC5A2 Q167fs*20 [plasma membrane]
Stable Identifier
R-HSA-5658191
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
SGLT2, Sodium/glucose cotransporter 2, SC5A2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC5A2 causes renal glucosuria (GLYS1) (Homo sapiens)
Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol (Homo sapiens)
SLC5A2 mutants [plasma membrane] (Homo sapiens)
SLC5A2 Q167fs*20 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P31639 SLC5A2
Gene Names
SLC5A2, SGLT2
Chain
chain:1-672
Reference Genes
BioGPS Gene:6524 SLC5A2
COSMIC (genes):SLC5A2 SLC5A2
CTD Gene:6524 SLC5A2
dbSNP Gene:6524 SLC5A2
ENSEMBL:ENSG00000140675 SLC5A2
HGNC:11037 SLC5A2
KEGG:hsa:6524 SLC5A2
Monarch:6524 SLC5A2
NCBI Gene:6524 SLC5A2
OMIM:182381 SLC5A2
UCSC:P31639 SLC5A2
Reference Transcript
RefSeq:NM_003041.3 SLC5A2
Other Identifiers
11754701_a_at
16818374
207771_PM_at
207771_at
3657220
3657221
3657222
3657223
3657224
3657225
3657226
3657227
3657228
3657229
3657230
3657231
3657232
3657233
3657234
3657235
3657236
3657237
3657238
3657239
3657240
3657241
3657242
3657243
41305_at
6524
68635_at
7995222
A_14_P136272
A_14_P200432
A_23_P411277
A_33_P3217495
GE81226
GO:0000017
GO:0003014
GO:0005215
GO:0005362
GO:0005412
GO:0005515
GO:0005886
GO:0005975
GO:0006814
GO:0008645
GO:0015151
GO:0015293
GO:0015370
GO:0016020
GO:0016324
GO:0022857
GO:0035623
GO:0043226
GO:0055056
GO:0055085
GO:0070062
GO:0098708
GO:0098719
HMNXSV003024465
ILMN_1666972
ILMN_2070102
M95549_at
TC16000379.hg
g4507032_3p_at
Participates
as a member of
SLC5A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC5A2 [plasma membrane]
SLC5A2 W440* [plasma membrane]
SLC5A2 R479G [plasma membrane]
SLC5A2 N654S [plasma membrane]
Modified Residues
Name
Replacement of residues 167 to 185 by RRLWAGTSMPPSSRFWASP
Disease
Name
Identifier
Synonyms
renal tubular transport disease
DOID:447
inborn renal tubular transport disorder
Cross References
ZINC - World Drugs
SC5A2_HUMAN
Guide to Pharmacology - Targets
916
OpenTargets
ENSG00000140675
ENSEMBL
ENST00000419665
,
ENSP00000327943
,
ENST00000330498
,
ENSP00000410601
ZINC - FDA approved
SC5A2_HUMAN
ZINC - Substances
SC5A2_HUMAN
ZINC - Biogenic
SC5A2_HUMAN
ZINC target
P31639
PRO
P31639
PDB
8HG7
,
8HDH
,
7VSI
,
8HIN
,
8HEZ
,
7YNJ
,
8HB0
,
7YNK
ZINC - Investigational
SC5A2_HUMAN
ZINC - Metabolites
SC5A2_HUMAN
HPA
ENSG00000140675-SLC5A2
Pharos - Targets
P31639
Orphanet
SLC5A2
ZINC - Predictions - Purchasable
SC5A2_HUMAN
HMDB Protein
HMDBP03274
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q13113 PDZ1I
0.582
6
UniProt:O14556 GAPDHS
2
Unfolded GAPDHS [cytosol]
(R-HSA-6813805)
GAPDHS [cytosol]
(R-HSA-372873)
0.564
2
ChEBI:73274 CANAGLIFLOZIN
0.508
2
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