InnateDB Protein
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IDBP-12389.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC34A2
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Protein Name
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solute carrier family 34 (sodium phosphate), member 2
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Synonyms
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NAPI-3B; NAPI-IIb; NPTIIb;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000371483
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InnateDB Gene
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IDBG-12387 (SLC34A2)
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Protein Structure
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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.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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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}.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003841
Sodium-dependent phosphate transport protein
IPR011527
ABC transporter type 1, transmembrane domain
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PFAM |
PF02690
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95436
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PhosphoSite |
PhosphoSite-O95436
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TrEMBL |
D6RBC0
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UniProt Splice Variant |
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Entrez Gene |
10568
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UniGene |
Hs.714069
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RefSeq |
NP_006415
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HUGO |
HGNC:11020
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OMIM |
604217
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CCDS |
CCDS3435
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HPRD |
07251
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IMGT |
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EMBL |
AC092436
AF111856
AF146796
AH011306
AK075015
BC142704
BC146666
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GenPept |
AAC98695
AAF31328
AAI42705
AAI46667
AAL55657
BAC11354
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