InnateDB Protein
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IDBP-480113.4
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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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SLC20A2
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Protein Name
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solute carrier family 20 (phosphate transporter), member 2
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Synonyms
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GLVR-2; GLVR2; IBGC1; IBGC3; MLVAR; PIT-2; PIT2; RAM1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000429754
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InnateDB Gene
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IDBG-20276 (SLC20A2)
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Protein Structure
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Function |
Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. {ECO:0000269PubMed:11435563, ECO:0000269PubMed:12205090, ECO:0000269PubMed:15955065, ECO:0000269PubMed:16790504, ECO:0000269PubMed:8302848}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:9151850}; Multi-pass membrane protein {ECO:0000269PubMed:9151850}.
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Disease Associations |
Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269PubMed:22327515}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed.
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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 |
IPR001204
Phosphate transporter
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PFAM |
PF01384
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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 |
Q08357
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PhosphoSite |
PhosphoSite-Q08357
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TrEMBL |
E5RJW9
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UniProt Splice Variant |
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Entrez Gene |
6575
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UniGene |
Hs.653173
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RefSeq |
NP_001244109
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HUGO |
HGNC:10947
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OMIM |
158378
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CCDS |
CCDS6132
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HPRD |
08865
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IMGT |
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EMBL |
AC090739
AC093367
AC107885
AK291202
BC028600
L20852
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GenPept |
AAA18018
AAH28600
BAF83891
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