SLC26A3 I675dup [plasma membrane]

Stable Identifier
R-HSA-5627746
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Chloride anion exchanger, S26A3_HUMAN, SLC26A3 Ile675dup
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
9718329 Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

Socha, J, Höglund, P, Nazer, H, Rajaram, U, Popinska, K, de la Chapelle, A, Al-Ghanim, M, Kere, J, Auranen, M, Al Sanie, A, Holmberg, C

Am. J. Hum. Genet. 1998
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
ENSEMBL_homo_sapiens_GENE:ENSG00000091138.13 SLC26A3
HGNC:3018 SLC26A3
KEGG Gene (Homo sapiens):1811 SLC26A3
Monarch:1811 SLC26A3
NCBI Gene:1811 SLC26A3
OMIM:126650 SLC26A3
UCSC:P40879 SLC26A3
Reference Transcript
Other Identifiers
11729214_a_at
17061634
1811
206143_PM_at
206143_at
3067252
3067254
3067255
3067256
3067257
3067258
3067259
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:0005929
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:0030154
GO:0031526
GO:0043226
GO:0048240
GO:0048856
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
Other forms of this molecule
SLC26A3 W462* [plasma membrane]
SLC26A3 G187* [plasma membrane]
SLC26A3 V317del [plasma membrane]
SLC26A3 [plasma membrane]
Modified Residues
Name
Insertion of residues 675 to 675 at 676 from UniProt:P40879 SLC26A3
Coordinate
676
Disease
Name Identifier Synonyms
secretory diarrhea DOID:0050129
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
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