SLC52A2 (solute carrier family 52 member 2)

2018-07-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
BVVLS2,D15Ertd747e,GPCR41,GPR172A,PAR1,RFT3,RFVT2,hRFT3

Other Information

Locus ID:

NCBI: 79581
MIM: 607882
HGNC: 30224
Ensembl: ENSG00000185803

Variants:

dbSNP: 79581
ClinVar: 79581
TCGA: ENSG00000185803
COSMIC: SLC52A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185803ENST00000329994Q9HAB3
ENSG00000185803ENST00000402965Q9HAB3
ENSG00000185803ENST00000524541E9PRC3
ENSG00000185803ENST00000526338E9PKE4
ENSG00000185803ENST00000526752E9PJC1
ENSG00000185803ENST00000526779E9PPS0
ENSG00000185803ENST00000527078Q9HAB3
ENSG00000185803ENST00000530047Q9HAB3
ENSG00000185803ENST00000534725E9PIX2
ENSG00000185803ENST00000643944Q9HAB3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B2 (riboflavin) metabolismREACTOMER-HSA-196843

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
242532002014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.39
235069022013Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.28
290538332017Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.9
246160842014Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.5
241398422013Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.3
266696622016Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).3
291938292018Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.3
267918332016Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.2
297150862018The Expression of Riboflavin Transporters in Human Colorectal Cancer.2
269183852016Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.1

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