Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10568
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Solute carrier family 34 member 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SLC34A2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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NAPI-3B, NAPI-IIb, NPTIIb, NaPi2b, PULAM |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
PULAM |
Chromosome
Chromosome number
|
4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4p15.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 i |
UniProt ID |
O95436
|
Protein name |
Sodium-dependent phosphate transport protein 2B (Sodium-phosphate transport protein 2B) (Na(+)-dependent phosphate cotransporter 2B) (NaPi3b) (Sodium/phosphate cotransporter 2B) (Na(+)/Pi cotransporter 2B) (NaPi-2b) (Solute carrier family 34 member 2) |
Protein function |
Involved in actively transporting phosphate into cells via Na(+) cotransport. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02690
|
Na_Pi_cotrans |
110 → 249 |
Na+/Pi-cotransporter |
Family |
PF02690
|
Na_Pi_cotrans |
374 → 576 |
Na+/Pi-cotransporter |
Family |
|
Tissue specificity |
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:0000269|PubMed:10329428, EC |
Sequence |
|
Sequence length |
690 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Lung carcinoma |
Non-Small Cell Lung Carcinoma |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 View all (44 more) |
22617245, 22919003 |
Pulmonary alveolar microlithiasis |
Pulmonary Alveolar Microlithiasis, Pulmonary alveolar microlithiasis |
rs137853141, rs137853142, rs796065044 |
16960801, 15331184, 23164546, 20046000 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Inhibit
|
25017204, 26156586 |
Adenocarcinoma of Lung |
Associate
|
28720066 |
Breast Neoplasms |
Associate
|
34944522 |
Cancer Pain |
Associate
|
34944522 |
Carcinogenesis |
Associate
|
26156586 |
Carcinoma Hepatocellular |
Associate
|
28281971 |
Carcinoma Non Small Cell Lung |
Associate
|
22617245, 25384172, 28720066, 31118036, 38070598 |
Carcinoma Non Small Cell Lung |
Inhibit
|
26156586 |
Carcinoma Renal Cell |
Associate
|
22430804, 23887297 |
Death |
Associate
|
23400546 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
33326660 |
Lung Diseases |
Associate
|
35443721 |
Lung Neoplasms |
Associate
|
25017204, 25691052, 31585300 |
Neoplasm Metastasis |
Inhibit
|
26156586 |
Neoplasms |
Associate
|
22430804, 26992220, 28151475, 28281971, 28720066, 30868061, 32164602, 33326660, 34336552, 34944522, 35437317 |
Neoplasms |
Inhibit
|
25017204, 26156586 |
Neuroblastoma |
Associate
|
30868061 |
Ovarian Neoplasms |
Stimulate
|
34944522 |
Pulmonary Alveolar Microlithiasis |
Associate
|
16960801, 30904891, 31831582, 34581165, 35443721 |
Testicular Microlithiasis |
Associate
|
16960801 |
Thyroid Cancer Papillary |
Associate
|
21179278, 34336552 |
Thyroid Neoplasms |
Associate
|
32164602 |
Thyroid Nodule |
Associate
|
32164602 |
Urinary Bladder Neoplasms |
Associate
|
28151475 |
|