SLC34A3 P303Rfs*40 [plasma membrane]

Stable Identifier
R-HSA-5651944
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sodium-dependent phosphate transport protein 2C, NPT2C_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC34A3, NPT2C, NPTIIC
Chain
chain:1-599
Other Identifiers
0006760195
11735668_at
142680
1552510_at
1569926_s_at
17091678
4051418
4085366
4096747
8159627
85560_at
A_23_P113682
A_33_P3297468
A_33_P3780983
GE521743
GO:0003674
GO:0005436
GO:0005515
GO:0005575
GO:0005886
GO:0005903
GO:0006810
GO:0006811
GO:0006814
GO:0006817
GO:0008150
GO:0015293
GO:0016020
GO:0016021
GO:0016324
GO:0022857
GO:0030643
GO:0031526
GO:0031982
GO:0035725
GO:0042592
GO:0043226
GO:0044341
GO:0055085
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
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 303 to 341 by RRTGCPAATCLRARSSRTWPWAASCWPAPCWCSAAAWSS
Disease
Name Identifier Synonyms
X-linked hypophosphatemia 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
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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