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SLCO2A1 N545Tfs*15 [plasma membrane]
Stable Identifier
R-HSA-5661447
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
PGT, Solute carrier organic anion transporter family member 2A1, SO2A1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) (Homo sapiens)
Defective SLCO2A1 does not transport PGT substrates from extracellular region to cytosol (Homo sapiens)
SLCO2A1 mutants [plasma membrane] (Homo sapiens)
SLCO2A1 N545Tfs*15 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92959 SLCO2A1
Gene Names
SLCO2A1, OATP2A1, SLC21A2
Chain
chain:1-643
Reference Genes
BioGPS Gene:6578 SLCO2A1
COSMIC (genes):SLCO2A1 SLCO2A1
CTD Gene:6578 SLCO2A1
dbSNP Gene:6578 SLCO2A1
ENSEMBL:ENSG00000174640 SLCO2A1
HGNC:10955 SLCO2A1
KEGG:hsa:6578 SLCO2A1
Monarch:6578 SLCO2A1
NCBI Gene:6578 SLCO2A1
OMIM:601460 SLCO2A1
UCSC:Q92959 SLCO2A1
Reference Transcript
RefSeq:NM_005630.2 SLCO2A1
Other Identifiers
11717560_at
11751208_a_at
11756511_a_at
16959386
204368_PM_at
204368_at
2696114
2696115
2696116
2696117
2696120
2696125
2696129
2696131
2696132
2696133
2696134
2696135
2696137
2696138
2696140
2696141
2696145
2696147
2696148
2696149
2696150
2696163
2696166
2696167
2696168
2696179
2696188
2696189
37919_at
6578
8090823
A_23_P135990
GE60473
GO:0005215
GO:0005319
GO:0005515
GO:0005737
GO:0005764
GO:0005773
GO:0005886
GO:0006811
GO:0006869
GO:0009925
GO:0015132
GO:0015347
GO:0015732
GO:0016020
GO:0016323
GO:0022857
GO:0043226
GO:0043252
GO:0055085
HMNXSV003029340
ILMN_1705231
PH_hs_0027721
TC03001800.hg
U70867_at
g5032094_3p_at
Participates
as a member of
SLCO2A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLCO2A1 F276Lfs*18 [plasma membrane]
SLCO2A1 C420F [plasma membrane]
SLCO2A1 G222R [plasma membrane]
SLCO2A1 G255E [plasma membrane]
SLCO2A1 [plasma membrane]
Modified Residues
Name
Replacement of residues 545 to 558 by TRRKSHLPSGCSSC
Disease
Name
Identifier
Synonyms
primary hypertrophic osteoarthropathy
DOID:14283
Pachydermoperiostosis of nail [Ambiguous], Pachydermoperiostosis of nail (disorder), Pachydermoperiostosis of nail, Pachydermoperiostosis syndrome (disorder)
Cross References
ZINC - World Drugs
SO2A1_HUMAN
Guide to Pharmacology - Targets
1223
ENSEMBL
ENSP00000311291
,
ENST00000310926
OpenTargets
ENSG00000174640
ZINC - Substances
SO2A1_HUMAN
ZINC - Biogenic
SO2A1_HUMAN
ZINC target
Q92959
PRO
Q92959
GlyGen
Q92959
PDB
3MRR
ZINC - Investigational
SO2A1_HUMAN
ZINC - Metabolites
SO2A1_HUMAN
HPA
ENSG00000174640-SLCO2A1
Pharos - Targets
Q92959
Orphanet
SLCO2A1
ZINC - Predictions - Purchasable
SO2A1_HUMAN
HMDB Protein
HMDBP05558
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