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SLC34A3 C77Afs*75

Stable Identifier
R-HSA-5651981
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
23776
4085366
4096747
8159627
85560_at
A_23_P113682
A_33_P3297468
A_33_P3780983
CCDS7038
ENSG00000198569
ENSP00000355353
ENSP00000442397
ENST00000361134
ENST00000538474
EntrezGene:142680
GE521743
GO:0005436
GO:0005737
GO:0005886
GO:0005903
GO:0006810
GO:0006811
GO:0006814
GO:0006817
GO:0015293
GO:0015321
GO:0016020
GO:0016021
GO:0016324
GO:0030643
GO:0031526
GO:0031982
GO:0035435
GO:0035725
GO:0044341
GO:0055085
HGNC:20305
HPA023776
Hs2.189144.1.S1_3p_at
Hs2.189144.2.S1_3p_s_at
ILMN_1754053
ILMN_1811880
ILMN_3241322
MIM:241530
MIM:609826
NM_001177316
NM_001177317
NM_080877
NP_001170787
NP_001170788
NP_543153
PF02690
PH_hs_0030163
PH_hs_0033307
SLC34A3
SLC34A3-201
SLC34A3-202
TC09002888.hg
uc004cmf.1
uc011met.2
UPI00004577EA
XM_011518257
XM_011518258
XM_011518259
XM_011518260
XM_011518261
XM_017014290
XM_017014291
XM_017014292
XP_011516559
XP_011516560
XP_011516561
XP_011516562
XP_011516563
XP_016869779
XP_016869780
XP_016869781
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 77 to 150 by AGSSAACTSSSALWTSSAPPSSCWAAKWPETSSRTTWCCPTLWLDWSLACWSQPWCRVPARPPPSWSAWWLLSC
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
Cross References
GeneCards
PRO
Orphanet
HMDB Protein