Identity
HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
BVVLS2,D15Ertd747e,GPCR41,GPR172A,PAR1,RFT3,RFVT2,hRFT3
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: 79581
MIM: 607882
HGNC: 30224
Ensembl: ENSG00000185803
Variants:
dbSNP: 79581
ClinVar: 79581
TCGA: ENSG00000185803
COSMIC: SLC52A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34428344 | 2022 | Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2. | 5 |
| 36480241 | 2022 | Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2. | 1 |
| 34428344 | 2022 | Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2. | 5 |
| 36480241 | 2022 | Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2. | 1 |
| 33751428 | 2021 | Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System. | 0 |
| 33751428 | 2021 | Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System. | 0 |
| 32855765 | 2020 | Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. | 11 |
| 32855765 | 2020 | Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. | 11 |
| 30793323 | 2019 | An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. | 33 |
| 30793323 | 2019 | An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. | 33 |
| 29193829 | 2018 | Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. | 8 |
| 29287867 | 2018 | SLC52A2 mutations cause SCABD2 phenotype: A second report. | 3 |
| 29715086 | 2018 | The Expression of Riboflavin Transporters in Human Colorectal Cancer. | 10 |
| 29193829 | 2018 | Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. | 8 |
| 29287867 | 2018 | SLC52A2 mutations cause SCABD2 phenotype: A second report. | 3 |
Citation
Dessen P
SLC52A2 (solute carrier family 52 member 2)
Atlas Genet Cytogenet Oncol Haematol. 2018-07-01
Online version: http://atlasgeneticsoncology.org/gene/57490/slc52a2-(solute-carrier-family-52-member-2)
