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SLC34A2 N38Tfs*8 [plasma membrane]
Stable Identifier
R-HSA-5651681
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium-dependent phosphate transport protein 2B, NPT2B_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM) (Homo sapiens)
Defective SLC34A2 does not cotransport Pi, 3Na+ (Homo sapiens)
SLC34A2 mutants [plasma membrane] (Homo sapiens)
SLC34A2 N38Tfs*8 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O95436 SLC34A2
Gene Names
SLC34A2
Chain
chain:1-690
Reference Genes
BioGPS Gene:10568 SLC34A2
COSMIC (genes):SLC34A2 SLC34A2
CTD Gene:10568 SLC34A2
dbSNP Gene:10568 SLC34A2
ENSEMBL:ENSG00000157765 SLC34A2
ENSEMBL_homo_sapiens_GENE:ENSG00000157765.13 SLC34A2
HGNC:11020 SLC34A2
KEGG Gene (Homo sapiens):10568 SLC34A2
Monarch:10568 SLC34A2
NCBI Gene:10568 SLC34A2
OMIM:604217 SLC34A2
UCSC:O95436 SLC34A2
Reference Transcript
RefSeq:NM_001177998.1 SLC34A2
RefSeq:NM_001177999.1 SLC34A2
RefSeq:NM_006424.2 SLC34A2
Other Identifiers
10568
11757080_s_at
11758272_at
11758407_x_at
16965606
204124_3p_at
204124_PM_at
204124_at
2721963
2721967
2721968
2721969
2721970
2721974
2721975
2721976
2721977
2721978
2721980
2721982
2721983
2721985
2721988
2721989
2721990
2721991
2721992
2721993
2721994
2721995
2721996
2721997
2721998
2721999
2722000
2722001
2722002
2722003
2722004
2722005
2722006
2722007
2722008
2722009
3178025
3563328
48048_at
8094441
A_14_P114613
A_14_P122398
A_14_P131344
A_23_P121646
A_23_P133036
A_33_P3270852
GE79038
GO:0001701
GO:0005215
GO:0005436
GO:0005515
GO:0005886
GO:0005903
GO:0006811
GO:0006814
GO:0006817
GO:0015293
GO:0016020
GO:0016324
GO:0019538
GO:0030643
GO:0031402
GO:0031526
GO:0031982
GO:0035725
GO:0042301
GO:0043226
GO:0043627
GO:0044341
GO:0048856
GO:0055085
HMNXSV003023308
ILMN_2184109
PH_hs_0025844
TC04000178.hg
g6910977_3p_at
g6910977_3p_x_at
Participates
as a member of
SLC34A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC34A2 [plasma membrane]
SLC34A2 G106R [plasma membrane]
SLC34A2 Q76* [plasma membrane]
SLC34A2 Q486* [plasma membrane]
SLC34A2 V448* [plasma membrane]
SLC34A2 K304* [plasma membrane]
Modified Residues
Name
Replacement of residues 38 to 44 by TITLRHL
Disease
Name
Identifier
Synonyms
pulmonary alveolar microlithiasis
DOID:12117
pulmonary alveolar microlithiasis (disorder)
Cross References
RefSeq
NP_001171470.1
,
NP_001171469.1
,
NP_006415.2
Guide to Pharmacology - Targets
1136
OpenTargets
ENSG00000157765
GeneCards
O95436
HPA
ENSG00000157765-SLC34A2
Ensembl
ENST00000382051
,
ENSP00000494094
,
ENST00000645788
,
ENST00000504570
,
ENSP00000371483
,
ENST00000503434
,
ENSG00000157765
,
ENSP00000425501
,
ENSP00000423021
PRO
O95436
Pharos - Targets
O95436
Orphanet
15320
HMDB Protein
HMDBP03242
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