SLC34A3 P303Rfs*40 [plasma membrane]

Stable Identifier
R-HSA-5651944
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium-dependent phosphate transport protein 2C, NPT2C_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q8N130 SLC34A3
Gene Names
SLC34A3, NPT2C, NPTIIC
Chain
chain:1-599
Reference Genes
BioGPS Gene:142680 SLC34A3
COSMIC (genes):SLC34A3 SLC34A3
CTD Gene:142680 SLC34A3
dbSNP Gene:142680 SLC34A3
ENSEMBL:ENSG00000198569 SLC34A3
HGNC:20305 SLC34A3
KEGG:hsa:142680 SLC34A3
Monarch:142680 SLC34A3
NCBI Gene:142680 SLC34A3
OMIM:609826 SLC34A3
UCSC:Q8N130 SLC34A3
Reference Transcript
Other Identifiers
11735668_at
142680
1552510_PM_at
1552510_at
1569926_PM_s_at
1569926_s_at
17091678
4051418
4085366
4096747
8159627
85560_at
A_23_P113682
A_33_P3297468
A_33_P3780983
GE521743
GO:0005215
GO:0005436
GO:0005515
GO:0005886
GO:0005903
GO:0006814
GO:0006817
GO:0015293
GO:0016020
GO:0016324
GO:0030643
GO:0031526
GO:0031982
GO:0035725
GO:0043226
GO:0044341
GO:0055085
HMNXSV003018288
Hs2.189144.1.S1_3p_at
Hs2.189144.2.S1_3p_s_at
ILMN_1754053
ILMN_1811880
PH_hs_0030163
PH_hs_0033307
TC09002888.hg
Participates
as a member of
Other forms of this molecule
SLC34A3 R468W [plasma membrane]
SLC34A3 C77Afs*75 [plasma membrane]
SLC34A3 G196R [plasma membrane]
SLC34A3 G191R [plasma membrane]
SLC34A3 [plasma membrane]
Modified Residues
Name
Replacement of residues 303 to 341 by RRTGCPAATCLRARSSRTWPWAASCWPAPCWCSAAAWSS
Disease
Name Identifier Synonyms
X-linked hypophosphatemia DOID:0050445 Rickets, Hypophosphatemic, hypophosphatemic rickets X-linked dominant, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets, X-Linked, Rickets, Vitamin D-Resistant, Hypophosphatemia, Vitamin D-Resistant Rickets
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
Interactors (4)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8TED1 GPX8  1 0.556 3
 UniProt:Q8WY98 TM234      0.556 3
 UniProt:Q9NRX6 KISHB      0.556 3
 UniProt:P58418 CLRN1      0.556 3
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