Identity
HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
GLVR-2,GLVR2,IBGC1,IBGC2,IBGC3,MLVAR,PIT-2,PIT2,RAM1,Ram-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6575
MIM: 158378
HGNC: 10947
Ensembl: ENSG00000168575
Variants:
dbSNP: 6575
ClinVar: 6575
TCGA: ENSG00000168575
COSMIC: SLC20A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35713844 | 2023 | Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis. | 1 |
| 35881308 | 2023 | Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. | 2 |
| 37341843 | 2023 | PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity. | 1 |
| 35713844 | 2023 | Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis. | 1 |
| 35881308 | 2023 | Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. | 2 |
| 37341843 | 2023 | PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity. | 1 |
| 36465661 | 2022 | PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis. | 0 |
| 36465661 | 2022 | PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis. | 0 |
| 33471268 | 2021 | Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series. | 3 |
| 34041689 | 2021 | MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels. | 0 |
| 34267336 | 2021 | Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. | 8 |
| 33471268 | 2021 | Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series. | 3 |
| 34041689 | 2021 | MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels. | 0 |
| 34267336 | 2021 | Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. | 8 |
| 32274582 | 2020 | Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation. | 3 |
Citation
Dessen P
SLC20A2 (solute carrier family 20 member 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42315/slc20a2-(solute-carrier-family-20-member-2)
