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SLC2A2 P417L [plasma membrane]
Stable Identifier
R-HSA-5638299
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
GLUT2, Solute carrier family 2, facilitated glucose transporter, member 2, Glucose transporter type 2, liver
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) (Homo sapiens)
Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region (Homo sapiens)
SLC2A2 mutants [plasma membrane] (Homo sapiens)
SLC2A2 P417L [plasma membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
1562197
Mammalian facilitative glucose transporter family: structure and molecular regulation.
Pessin, JE
,
Bell, GI
Annu Rev Physiol
1992
External Reference Information
External Reference
UniProt:P11168 SLC2A2
Gene Names
SLC2A2, GLUT2
Chain
chain:1-524
Reference Genes
BioGPS Gene:6514 SLC2A2
COSMIC (genes):SLC2A2 SLC2A2
CTD Gene:6514 SLC2A2
dbSNP Gene:6514 SLC2A2
ENSEMBL:ENSG00000163581 SLC2A2
ENSEMBL_homo_sapiens_GENE:ENSG00000163581.14 SLC2A2
HGNC:11006 SLC2A2
KEGG Gene (Homo sapiens):6514 SLC2A2
Monarch:6514 SLC2A2
NCBI Gene:6514 SLC2A2
OMIM:138160 SLC2A2
UCSC:P11168 SLC2A2
Reference Transcript
RefSeq:NM_001278658.1 SLC2A2
RefSeq:NM_000340.1 SLC2A2
RefSeq:NM_001278659.1 SLC2A2
Other Identifiers
11733276_a_at
11733277_a_at
11733278_at
11748953_a_at
16961485
16961487
206535_PM_at
206535_at
2705213
2705214
2705216
2705217
2705218
2705219
2705221
2705222
2705223
2705225
2705226
2705227
2705229
2705232
2705233
2705238
2705240
38238_at
49807_at
6514
8092081
8092083
88058_s_at
A_23_P132569
A_24_P405705
GE58214
GO:0005215
GO:0005353
GO:0005354
GO:0005355
GO:0005737
GO:0005886
GO:0005903
GO:0005911
GO:0005975
GO:0008643
GO:0015149
GO:0015755
GO:0015757
GO:0016020
GO:0016324
GO:0022857
GO:0023052
GO:0033300
GO:0035774
GO:0046323
GO:0055056
GO:0055085
GO:0070837
GO:1904659
HMNXSV003030325
ILMN_1755720
J03810_at
PH_hs_0010057
TC03001996.hg
TC03001997.hg
g4557850_3p_at
Participates
as a member of
SLC2A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC2A2 R301* [plasma membrane]
SLC2A2 V423E [plasma membrane]
SLC2A2 Q287* [plasma membrane]
SLC2A2 L46Wfs*29 [plasma membrane]
SLC2A2 R365* [plasma membrane]
SLC2A2 L389P [plasma membrane]
SLC2A2 [plasma membrane]
Modified Residues
Name
L-proline 417 replaced with L-leucine
Coordinate
417
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name
Identifier
Synonyms
renal tubular transport disease
DOID:447
inborn renal tubular transport disorder
Cross References
RefSeq
NP_001265588.1
,
NP_001265587.1
,
NP_000331.1
Guide to Pharmacology - Targets
876
OpenTargets
ENSG00000163581
HPA
ENSG00000163581-SLC2A2
GeneCards
P11168
Ensembl
ENSP00000323568
,
ENSG00000163581
,
ENST00000314251
PRO
P11168
Pharos - Targets
P11168
Orphanet
15319
HMDB Protein
HMDBP05474
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8WWH5 TRUB1
0.527
2
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