HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC20A2
solute carrier family 20 member 2
Chromosome 8 Β· 8p11.21
NCBI Gene: 6575Ensembl: ENSG00000168575.12HGNC: HGNC:10947UniProt: A0A384MR38
88PubMed Papers
21Diseases
0Drugs
86Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sodium:phosphate symporter activityplasma membraneextracellular exosomevirus receptor activitybilateral striopallidodentate calcinosisBasal ganglia calcificationgenetic disorderDystonia
✦AI Summary

SLC20A2 encodes a sodium-phosphate cotransporter (PiT2) that plays critical roles in brain phosphate homeostasis and neuronal function. The protein is highly expressed in astrocytes where it exhibits polarized distribution throughout astrocyte processes, functioning as a phosphate importer that is essential for maintaining brain phosphate balance 1. Beyond phosphate transport, SLC20A2 regulates hippocampal-dependent learning and memory by promoting neuronal branching and survival, independently of its phosphate transport ability 2. Loss-of-function mutations in SLC20A2 cause primary familial brain calcification (PFBC), an autosomal dominant disorder characterized by bilateral calcium-hydroxyapatite crystal deposition in basal ganglia and other brain regions 3. The pathogenesis involves disrupted phosphate homeostasis, impaired endothelial function, and compromised blood-brain barrier integrity 3. Clinically, PFBC presents with movement disorders, cognitive deficits, and psychiatric disturbances, though nearly one-third of cases remain asymptomatic despite brain calcification 4. Novel therapeutic approaches include antisense oligonucleotides that can restore SLC20A2 expression and reduce brain calcification in mouse models 5. The protein also functions as a retroviral receptor, conferring susceptibility to certain murine and feline leukemia viruses, highlighting its diverse biological roles.

Sources cited
1
SLC20A2 is highly expressed in astrocytes with polarized distribution and functions as phosphate importer essential for brain phosphate homeostasis
PMID: 39019040
2
SLC20A2 regulates hippocampal learning, memory, neuronal branching and survival independently of phosphate transport
PMID: 38195526
3
SLC20A2 mutations cause autosomal dominant PFBC with bilateral brain calcification and involves disrupted phosphate homeostasis
PMID: 40169250
4
PFBC presents with movement disorders, cognitive deficits, psychiatric symptoms, with one-third remaining asymptomatic
PMID: 37446066
5
Antisense oligonucleotides can restore SLC20A2 expression and reduce brain calcification in mouse models
PMID: 39121859
Disease Associationsβ“˜21
bilateral striopallidodentate calcinosisOpen Targets
0.75Strong
Basal ganglia calcificationOpen Targets
0.71Strong
genetic disorderOpen Targets
0.49Moderate
DystoniaOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.38Weak
basal ganglia cerebrovascular diseaseOpen Targets
0.37Weak
goutOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.25Weak
ApneaOpen Targets
0.22Weak
narcolepsyOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.14Weak
substance abuseOpen Targets
0.14Weak
vascular dementiaOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
Total congenital cataractOpen Targets
0.08Suggestive
drug allergyOpen Targets
0.07Suggestive
Cataract-microcornea syndromeOpen Targets
0.07Suggestive
Partial congenital cataractOpen Targets
0.07Suggestive
early-onset nuclear cataractOpen Targets
0.07Suggestive
early-onset zonular cataractOpen Targets
0.07Suggestive
Basal ganglia calcification, idiopathic, 1UniProt
Pathogenic Variants86
NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)Pathogenic
not provided|SLC20A2-related disorder|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 115
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 568
NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 261
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)Pathogenic
not provided|SLC20A2-related disorder|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn)Pathogenic
not provided|SLC20A2-related disorder|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 28
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)Pathogenic
Idiopathic basal ganglia calcification 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 459
NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025β†’ Residue 535
NM_001257180.2(SLC20A2):c.935-2A>GPathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2025
NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2024β†’ Residue 467
NM_001257180.2(SLC20A2):c.290-8A>GPathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2024
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)Pathogenic
not provided|SLC20A2-related disorder|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2023β†’ Residue 285
NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)Pathogenic
Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2023β†’ Residue 382
NM_001257180.2(SLC20A2):c.338C>G (p.Ser113Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 113
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)Pathogenic
Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2023β†’ Residue 575
NM_001257180.2(SLC20A2):c.1794+1G>CPathogenic
not provided|SLC20A2-related disorder|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2022
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2022β†’ Residue 195
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)Pathogenic
not provided|Idiopathic basal ganglia calcification 1
β˜…β˜…β˜†β˜†2022β†’ Residue 46
NM_001257180.2(SLC20A2):c.1523+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_001257180.2(SLC20A2):c.515del (p.Lys172fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 172
NM_001257180.2(SLC20A2):c.1523G>A (p.Ser508Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 508
View on ClinVar β†—
Related Genes
RMC1Protein interaction83%PTHProtein interaction71%SLC34A3Protein interaction71%MYORGProtein interaction67%SLC34A2Protein interaction60%XPR1Protein interaction59%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Liver
38%
Lung
22%
Ovary
14%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
SLC20A2RMC1PTHSLC34A3MYORGSLC34A2XPR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q08357
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.46 [0.33–0.64]
RankingsWhere SLC20A2 stands among ~20K protein-coding genes
  • #5,442of 20,598
    Most Researched88
  • #870of 5,498
    Most Pathogenic Variants86 Β· top quartile
  • #4,623of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedSLC20A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Basal ganglia calcification: 'Fahr's disease'.
PMID: 40169250
Pract Neurol Β· 2025
1.00
2
Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model.
PMID: 39121859
Neuron Β· 2024
0.90
3
The Genetics of Primary Familial Brain Calcification: A Literature Review.
PMID: 37446066
Int J Mol Sci Β· 2023
0.80
4
Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.
PMID: 31267306
Neurol Sci Β· 2019
0.70
5
Fine-mapping causal tissues and genes at disease-associated loci.
PMID: 39747598
Nat Genet Β· 2025
0.60