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SLC52A2 |
Gene Facts External Data Attribution
- HGNC Symbol
- SLC52A2 (HGNC:30224) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 52 member 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- GPR172A
- Alias symbols
- FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3, RFT3, HuPAR-1
- %HI
- 77.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.96(Read more about gnomAD LOEUF score)
- Cytoband
- 8q24.3
- Genomic Coordinates
-
GRCh37/hg19: chr8:145582212-145584932 NCBI Ensembl UCSC GRCh38/hg38: chr8:144358552-144361272 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001363118.2 ENST00000643944.2 (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:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4- hydroxybutyrate (Probable). {ECO:000026... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24831
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)
