Homo sapiens Protein: SLC34A2
Summary
InnateDB Protein IDBP-12389.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC34A2
Protein Name solute carrier family 34 (sodium phosphate), member 2
Synonyms NAPI-3B; NAPI-IIb; NPTIIb;
Species Homo sapiens
Ensembl Protein ENSP00000371483
InnateDB Gene IDBG-12387 (SLC34A2)
Protein Structure
UniProt Annotation
Function May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Pulmonary alveolar microlithiasis (PALM) [MIM:265100]: Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long- term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. {ECO:0000269PubMed:16960801}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving SLC34A2 is found in a glioblastoma multiforme cell line U-118MG. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity. {ECO:0000269PubMed:12661006}.
Tissue Specificity Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium. {ECO:0000269PubMed:10329428, ECO:0000269PubMed:10610722}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005436 sodium:phosphate symporter activity
GO:0005524 ATP binding
GO:0015321 sodium-dependent phosphate transmembrane transporter activity
GO:0019904 protein domain specific binding
GO:0031402 sodium ion binding
GO:0042301 phosphate ion binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0001701 in utero embryonic development
GO:0006810 transport
GO:0006811 ion transport
GO:0006817 phosphate ion transport
GO:0007568 aging
GO:0009750 response to fructose
GO:0030643 cellular phosphate ion homeostasis
GO:0032355 response to estradiol
GO:0035435 phosphate ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0043627 response to estrogen
GO:0044341 sodium-dependent phosphate transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005903 brush border
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0031528 microvillus membrane
Protein Structure and Domains
PDB ID
InterPro IPR003841 Sodium-dependent phosphate transport protein
IPR011527 ABC transporter type 1, transmembrane domain
PFAM PF02690
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95436
PhosphoSite PhosphoSite-O95436
TrEMBL D6RBC0
UniProt Splice Variant
Entrez Gene 10568
UniGene Hs.714069
RefSeq NP_006415
HUGO HGNC:11020
OMIM 604217
CCDS CCDS3435
HPRD 07251
IMGT
EMBL AC092436 AF111856 AF146796 AH011306 AK075015 BC142704 BC146666
GenPept AAC98695 AAF31328 AAI42705 AAI46667 AAL55657 BAC11354