SLC20A2 - solute carrier family 20 member 2 Gene
Also Known as PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2
Species: Homo sapiens
About SLC20A2
This gene has 14 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues.
Summary
This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral Infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
SLC20A2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001257180.2 | NP_001244109.1 | sodium-dependent phosphate transporter 2 |
| NM_001257181.2 | NP_001244110.1 | sodium-dependent phosphate transporter 2 |
| NM_006749.5 | NP_006740.1 | sodium-dependent phosphate transporter 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables sodium:phosphate symporter activity |
IDA
IDA: Inferred from direct assay
|
17494632 | GOA |
| enables sodium:phosphate symporter activity |
IMP
IMP: Inferred from mutant phenotype
|
12205090 | GOA |
| enables virus receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
12205090 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
28722801 | GOA |
SLC20A2 Protein Structure
PHO4: Phosphate transporter family (24 - 637)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 652 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium-dependent phosphate transporter 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Basal Ganglia Calcification, Idiopathic, 1 |
|
|
| Basal Ganglia Calcification |
|
|
| Leukemia |
|
|
| Basal Ganglia Disease |
|
|
| Kenny-Caffey Syndrome, Type 1 |
|
|
| Lingual-Facial-Buccal Dyskinesia |
|
|
| Pulmonary Alveolar Microlithiasis |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
|
| Dystonia |
|
|
| Aphasia |
|
|
| Glossopharyngeal Neuralgia |
|
|
| Phosphorus Metabolism Disease |
|
|
| Parkinsonism |
|
|
| Arterial Calcification Of Infancy |
|
|
| Mineral Metabolism Disease |
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
|
| Choreatic Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SLC20A2 | RGD | RGD:3699 |
| Mus musculus | SLC20A2 | MGD | MGI:97851 |
| Felis catus | SLC20A2 | VGNC | VGNC:65237 |
| Macaca mulatta | SLC20A2 | VGNC | VGNC:77416 |
| Canis familiaris | SLC20A2 | VGNC | VGNC:46269 |
| Bos taurus | SLC20A2 | VGNC | VGNC:34718 |
| Others | SLC20A2 | NCBI |