SLC20A2 Chromosome 8
Solute carrier family 20 member 2
Upload your DNA to see your personal genotypes for variants in SLC20A2.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 20
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000168575
Associated Conditions (3)
Idiopathic basal ganglia calcification 1
Inborn genetic diseases
SLC20A2-related disorder
Key Variants
RS116122164
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
RS138052637
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1388992742
Conflicting classifications of pathogenicity
Health Risk
RS140978915
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
RS142888552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1563497719
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
RS185590768
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
RS201448246
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2131008814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2486943142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370590168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374973821
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116122164 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS138052637 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1388992742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140978915 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS142888552 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1563497719 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS185590768 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS201448246 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2131008814 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2486943142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370590168 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374973821 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS387906654 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS537867998 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS761069656 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1064795684 | Health Risk | Likely pathogenic | — |
| RS1554546372 | Health Risk | Likely pathogenic | — |
| RS1563431044 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563452322 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563453866 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563490467 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563497714 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1586022262 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1586110761 | Health Risk | Likely pathogenic | — |
| RS1802778819 | Health Risk | Likely pathogenic | — |
| RS2130905407 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131192653 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131227624 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2487076683 | Health Risk | Likely pathogenic | — |
| RS2487491252 | Health Risk | Likely pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1052304545 | Health Risk | Pathogenic | SLC20A2-related disorder, Idiopathic basal ganglia calcification 1, SLC20A2-related disorder |
| RS1052367854 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1234999465 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1477223199 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1554546830 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1554557554 | Health Risk | Pathogenic | — |
| RS1554561128 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1563452873 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563452941 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1563498184 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1586025869 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1807706006 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131003180 | Health Risk | Pathogenic | — |
| RS2131003774 | Health Risk | Pathogenic | — |
| RS2131006757 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131006903 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131228068 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS2131228451 | Health Risk | Pathogenic | — |
| RS2487096121 | Health Risk | Pathogenic | — |
| RS2487096929 | Health Risk | Pathogenic | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |