SLC52A3

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC52A3 (HGNC:16187) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 52 member 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C20orf54
Alias symbols
bA371L19.1, hRFT2, RFVT3, RFT2
%HI
68.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.8(Read more about gnomAD LOEUF score)
Cytoband
20p13
Genomic Coordinates
GRCh37/hg19: chr20:740724-756628 NCBI Ensembl UCSC
GRCh38/hg38: chr20:760080-780033 NCBI Ensembl UCSC
MANE Select Transcript
NM_033409.4 ENST00000645534.1 (Read more about MANE Select)
Function
Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). {ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:24264046, EC... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26204
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Brown-Vialetto-van Laere syndrome 1 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)