Human Gene SLC34A2 (ENST00000382051.8) from GENCODE V44
Description: Homo sapiens solute carrier family 34 member 2 (SLC34A2), transcript variant 1, mRNA. (from RefSeq NM_006424) RefSeq Summary (NM_006424): The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Gencode Transcript: ENST00000382051.8 Gencode Gene: ENSG00000157765.13 Transcript (Including UTRs) Position: hg38 chr4:25,655,851-25,678,748 Size: 22,898 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr4:25,662,501-25,676,749 Size: 14,249 Coding Exon Count: 12
ID:NPT2B_HUMAN DESCRIPTION: RecName: Full=Sodium-dependent phosphate transport protein 2B; Short=Sodium-phosphate transport protein 2B; AltName: Full=Na(+)-dependent phosphate cotransporter 2B; AltName: Full=NaPi3b; AltName: Full=Sodium/phosphate cotransporter 2B; Short=Na(+)/Pi cotransporter 2B; Short=NaPi-2b; AltName: Full=Solute carrier family 34 member 2; 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. BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 6.6; SUBCELLULAR 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. INDUCTION: Down-regulated by EGF. DISEASE: 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. DISEASE: 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. SIMILARITY: Belongs to the SLC34A transporter family. SEQUENCE CAUTION: Sequence=BAC11354.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95436
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001701 in utero embryonic development GO:0006811 ion transport GO:0006814 sodium ion transport GO:0006817 phosphate ion transport GO:0030643 cellular phosphate ion homeostasis GO:0035725 sodium ion transmembrane transport GO:0043627 response to estrogen GO:0044267 cellular protein metabolic process GO:0044341 sodium-dependent phosphate transport GO:0055085 transmembrane transport
Protein O95436 (Reactome details) participates in the following event(s):
R-HSA-427656 SLC34A1,2 cotransports HPO4(2-), 3Na+ from extracellular region to cytosol R-HSA-427589 Type II Na+/Pi cotransporters R-HSA-5683826 Surfactant metabolism R-HSA-427652 Sodium-coupled phosphate cotransporters R-HSA-392499 Metabolism of proteins R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
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