SLCtables

SLC34A2

Protein name: NaPi-IIb Aliases: N/D Substrates: inorganic phosphate (divalent) Transport type: Cotransporter / Na, HPO42- Tissue and cellular expression: small intestine, lung, testis, liver, secreting mammary gland Subcellular expression: N/D Disease: pulmonary alveolar microlithiasis, testicular microlithiasis Locus: 4p15 Sequence ID: NP_001171469.1, NM_001177998.1 NP_001171470.1, NM_001177999.1 NP_006415.2, NM_006424.2 Gene ID: 10568 Splice variants: N/D

NPT2B_HUMAN (UniProt)

Gene names: SLC34A2
Protein names and data: NPT2B_HUMAN, Full=Sodium-dependent phosphate transport protein 2B;Short=Sodium-phosphate transport protein 2B, Full=Na(+)-dependent phosphate cotransporter 2B;Full=NaPi3b;Full=Sodium/phosphate cotransporter 2B;Short=Na(+)/Pi cotransporter 2B;Short=NaPi-2b;Full=Solute carrier family 34 member 2; Length: 690 a.a., Mass: 75759 Da,
fasta formatted sequence
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
Disease: (OMIM: 265100 604217) Defects in SLC34A2 are a cause of pulmonary alveolar microlithiasis (PALM) [MIM:265100]. Pulmonary alveolar microlithiasis is a 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; Note=A chromosomal aberration involving SLC34A2 is found in a non-small cell lung cancer cell line. Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity
Cellular location: Membrane; Multi-pass membrane protein
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

Database cross-references

UniProt: O95436
NextBio: 40109
OMIM: 265100 604217
Ensembl: ENST00000504570
GeneCard: GC04P025657
PharmGenUCSF: SLC34A2
Guide to Pharmacology: SLC34A2 (1136)
SLC34 family of sodium phosphate co-transporters (1136)
HGNC: HGNC:11020

Genetic variants

See also Ensembl:ENST00000504570

45 - 45 V -> A (in dbSNP:rs35426730). VAR_034156 35426730
106 - 106 G -> R (in PALM). VAR_030677
634 - 634 D -> G (in dbSNP:rs6448389). VAR_030678 6448389