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SLC26A3 G187* [plasma membrane]
Stable Identifier
R-HSA-5627744
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Chloride anion exchanger, S26A3_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) (Homo sapiens)
SLC26A3 does not exchange Cl- for HCO3- (Homo sapiens)
SLC26A3 mutants [plasma membrane] (Homo sapiens)
SLC26A3 G187* [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P40879 SLC26A3
Gene Names
SLC26A3, DRA
Chain
chain:1-764
Reference Genes
BioGPS Gene:1811 SLC26A3
COSMIC (genes):SLC26A3 SLC26A3
CTD Gene:1811 SLC26A3
dbSNP Gene:1811 SLC26A3
ENSEMBL:ENSG00000091138 SLC26A3
HGNC:3018 SLC26A3
KEGG:hsa:1811 SLC26A3
Monarch:1811 SLC26A3
NCBI Gene:1811 SLC26A3
OMIM:126650 SLC26A3
UCSC:P40879 SLC26A3
Reference Transcript
RefSeq:NM_000111.2 SLC26A3
RefSeq:XM_011515867.2 SLC26A3
Other Identifiers
11729214_a_at
17061634
1811
206143_PM_at
206143_at
3067252
3067254
3067255
3067256
3067257
3067258
3067259
3067260
3067261
3067262
3067263
3067264
3067265
3067266
3067267
3067268
3067270
3067271
3067272
3067273
3067274
3067275
3067276
3067277
3067278
3067282
8142171
928_at
GE79400
GO:0005215
GO:0005452
GO:0005515
GO:0005886
GO:0006811
GO:0006820
GO:0008271
GO:0008272
GO:0015106
GO:0015108
GO:0015116
GO:0015297
GO:0015701
GO:0016020
GO:0016324
GO:0019531
GO:0019532
GO:0022414
GO:0031526
GO:0048240
GO:0051454
GO:0055085
GO:0060081
GO:0071320
GO:0097225
GO:0140900
GO:1902358
GO:1902476
HMNXSV003032515
ILMN_1760087
L02785_at
PH_hs_0000225
TC07001746.hg
g4557534_3p_at
Participates
as a member of
SLC26A3 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC26A3 W462* [plasma membrane]
SLC26A3 I675dup [plasma membrane]
SLC26A3 V317del [plasma membrane]
SLC26A3 [plasma membrane]
Modified Residues
Name
Nonsense mutation at glycine 187
Coordinate
187
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
secretory diarrhea
DOID:0050129
Cross References
Guide to Pharmacology - Targets
1099
ENSEMBL
ENSP00000345873
,
ENST00000340010
,
ENSG00000091138
OpenTargets
ENSG00000091138
GeneCards
SLC26A3
HPA
ENSG00000091138-SLC26A3
PRO
P40879
Pharos - Targets
P40879
GlyGen
P40879
Orphanet
SLC26A3
HMDB Protein
HMDBP03219
PDB
8IET
,
7XUH
,
7XUJ
,
7XUL
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