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SLC36A2 G87V [plasma membrane]
Stable Identifier
R-HSA-5653855
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
PAT2, Proton-coupled amino acid transporter 2
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) (Homo sapiens)
Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol (Homo sapiens)
SLC36A2 mutants [plasma membrane] (Homo sapiens)
SLC36A2 G87V [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q495M3 SLC36A2
Gene Names
SLC36A2, PAT2, TRAMD1
Chain
chain:1-483
Reference Genes
BioGPS Gene:153201 SLC36A2
COSMIC (genes):SLC36A2 SLC36A2
CTD Gene:153201 SLC36A2
dbSNP Gene:153201 SLC36A2
ENSEMBL:ENSG00000186335 SLC36A2
HGNC:18762 SLC36A2
KEGG Gene (Homo sapiens):153201 SLC36A2
Monarch:153201 SLC36A2
NCBI Gene:153201 SLC36A2
OMIM:608331 SLC36A2
UCSC:Q495M3 SLC36A2
Reference Transcript
RefSeq:NM_181776.2 SLC36A2
RefSeq:XM_017009084.1 SLC36A2
Other Identifiers
0004540402
11735547_at
11735548_x_at
11751586_a_at
153201
17001879
2835885
2881951
2881952
2881953
2881954
2881955
2881956
2881959
2881963
2881968
2881971
2881972
2881974
2881976
2881980
2881981
2881984
2881985
2881986
2881988
8115287
89396_at
A_23_P70102
GO:0003333
GO:0003674
GO:0005280
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005886
GO:0006810
GO:0006811
GO:0006865
GO:0008150
GO:0015171
GO:0015180
GO:0015187
GO:0015193
GO:0015808
GO:0015816
GO:0015824
GO:0016020
GO:0016021
GO:0022857
GO:0035524
GO:0043226
GO:0055085
GO:0070062
GO:1902600
HMNXSV003019397
HMNXSV003047113
ILMN_1793182
PH_hs_0024113
TC05001951.hg
Participates
as a member of
SLC36A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC36A2 V56* [plasma membrane]
SLC36A2 [plasma membrane]
Modified Residues
Name
glycine 87 replaced with L-valine
Coordinate
87
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
amino acid metabolic disorder
DOID:9252
inborn errors of amino acid metabolism
Cross References
RefSeq
NP_861441.2
,
XP_016864573.1
Guide to Pharmacology - Targets
1162
OpenTargets
ENSG00000186335
HPA
ENSG00000186335-SLC36A2
GeneCards
Q495M3
Ensembl
ENSP00000334223
,
ENSG00000186335
,
ENST00000335244
PRO
Q495M3
Pharos - Targets
Q495M3
Orphanet
17976
HMDB Protein
HMDBP10881
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