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SLC20A2 L170* [plasma membrane]
Stable Identifier
R-HSA-5625074
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium-dependent phosphate transporter 2, S20A2_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) (Homo sapiens)
Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol (Homo sapiens)
SLC20A2 mutants [plasma membrane] (Homo sapiens)
SLC20A2 L170* [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q08357 SLC20A2
Gene Names
SLC20A2, GLVR2, PIT2
Chain
chain:1-652
Reference Genes
BioGPS Gene:6575 SLC20A2
COSMIC (genes):SLC20A2 SLC20A2
CTD Gene:6575 SLC20A2
dbSNP Gene:6575 SLC20A2
ENSEMBL:ENSG00000168575 SLC20A2
ENSEMBL_homo_sapiens_GENE:ENSG00000168575.10 SLC20A2
HGNC:10947 SLC20A2
KEGG Gene (Homo sapiens):6575 SLC20A2
Monarch:6575 SLC20A2
NCBI Gene:6575 SLC20A2
OMIM:158378 SLC20A2
UCSC:Q08357 SLC20A2
Reference Transcript
RefSeq:NM_001257181.1 SLC20A2
RefSeq:XM_005273613.3 SLC20A2
RefSeq:NM_001257180.1 SLC20A2
RefSeq:NM_006749.4 SLC20A2
RefSeq:XM_017013748.1 SLC20A2
Other Identifiers
1137_at
11717599_s_at
11745732_a_at
202744_PM_at
202744_at
3133346
3133347
3133348
3133349
3133350
3133351
3133356
3133357
3133358
3133362
3133363
3133364
3133365
3133369
3133371
3133375
3133382
3133383
3133384
3133385
3133396
3133414
3133415
3133416
3133417
36956_at
6575
8150537
A_23_P94921
GE57668
GO:0001618
GO:0005215
GO:0005315
GO:0005436
GO:0005576
GO:0005615
GO:0005886
GO:0006811
GO:0006814
GO:0006817
GO:0015293
GO:0016020
GO:0016324
GO:0030501
GO:0031526
GO:0035435
GO:0035725
GO:0038023
GO:0043226
GO:0046718
GO:0048856
GO:0055085
GO:0060089
GO:0070062
HMNXSV003023599
HMNXSV003058109
ILMN_1813763
L20852_at
PH_hs_0016742
g5803172_3p_at
Participates
as a member of
SLC20A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC20A2 V195Lfs*61 [plasma membrane]
SLC20A2 [plasma membrane]
SLC20A2 G498R [plasma membrane]
SLC20A2 S601L [plasma membrane]
SLC20A2 T595M [plasma membrane]
SLC20A2 S610Afs*17 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-leucine 170
Coordinate
170
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name
Identifier
Synonyms
basal ganglia cerebrovascular disease
DOID:10991
Cross References
RefSeq
NP_001244110.1
,
NP_006740.1
,
XP_016869237.1
,
NP_001244109.1
,
XP_005273670.1
Guide to Pharmacology - Targets
1018
OpenTargets
ENSG00000168575
HPA
ENSG00000168575-SLC20A2
GeneCards
Q08357
Ensembl
ENST00000520179
,
ENSP00000429712
,
ENST00000520262
,
ENST00000342228
,
ENSP00000429754
,
ENSG00000168575
,
ENSP00000340465
PRO
Q08357
Pharos - Targets
Q08357
Orphanet
20827
HMDB Protein
HMDBP02976
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P43088 PTGFR
1
PTGFR [plasma membrane]
(R-HSA-391826)
0.527
2
UniProt:Q8TDQ0 HAVCR2
1
HAVCR2 [plasma membrane]
(R-HSA-5340408)
0.527
2
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