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SLC34A2 K304* [plasma membrane]
Stable Identifier
R-HSA-5651665
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)
Diseases of metabolism (Homo sapiens)
Diseases associated with surfactant metabolism (Homo sapiens)
Defective SLC34A2 causes PALM (Homo sapiens)
Defective SLC34A2 does not cotransport HPO4(2-), 3Na+ from extracellular region to cytosol (Homo sapiens)
SLC34A2 mutants [plasma membrane] (Homo sapiens)
SLC34A2 K304* [plasma membrane] (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 K304* [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
HGNC:11020 SLC34A2
KEGG:hsa: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
Participates
as a member of
SLC34A2 mutants [plasma membrane] (Homo sapiens)
SLC34A2 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC34A2 N38Tfs*8 [plasma membrane]
SLC34A2 V448* [plasma membrane]
SLC34A2 Q486* [plasma membrane]
SLC34A2 Q76* [plasma membrane]
SLC34A2 G106R [plasma membrane]
SLC34A2 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-lysine 304
Coordinate
304
PsiMod
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name
Identifier
Synonyms
pulmonary alveolar microlithiasis
DOID:12117
pulmonary alveolar microlithiasis (disorder)
Cross References
Guide to Pharmacology - Targets
1136
ENSEMBL
ENSP00000423021
,
ENSP00000494094
,
ENSP00000425501
,
ENST00000645788
,
ENST00000504570
,
ENSP00000371483
,
ENST00000382051
,
ENST00000503434
,
ENSG00000157765
OpenTargets
ENSG00000157765
GeneCards
SLC34A2
HPA
ENSG00000157765-SLC34A2
PRO
O95436
Pharos - Targets
O95436
GlyGen
O95436
Orphanet
SLC34A2
HMDB Protein
HMDBP03242
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