Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113278
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 52 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC52A3
Synonyms (NCBI Gene) Gene synonyms aliases
BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BVVLS1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization si
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3833341 ->GTCAATCAG,GTCAG Pathogenic, benign Intron variant
rs267606683 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs267606685 A>G Pathogenic Coding sequence variant, missense variant
rs267606688 G>A,T Pathogenic Coding sequence variant, missense variant
rs754753126 T>C,G Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT044271 hsa-miR-106b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 22273710
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613350 16187 ENSG00000101276
Protein
UniProt ID Q9NQ40
Protein name Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)
Protein 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, PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06237 DUF1011 297 395 Protein of unknown function (DUF1011) Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis. Highly expressed in small intestine and prostate. {ECO:0000269|PubMed:20463145}.
Sequence
MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTL
LHHFRPSCLSEVPIIFTLLGVGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDC
TSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQGSGLTTCVNVTEISDSVPSPV
PTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFV
LQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHL
AFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSL
LFLGVLSVLGTCFGGYNMAMAVMSPCPLLQGHWGG
EVLIVASWVLFSGCLSYVKVMLGVV
LRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vitamin digestion and absorption   Vitamin B2 (riboflavin) metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brown-vialetto-van laere syndrome Brown-Vialetto-Van Laere Syndrome 1 rs794728004, rs267606683, rs267606685, rs267606688, rs398124641, rs397514538, rs148234606, rs397514657, rs398123067, rs398123068, rs375088539, rs374071862, rs754320812, rs368924997, rs754753126
View all (12 more)
29053833, 22824638, 22633641, 20206331, 25462087, 27272163, 21110228, 27702554, 20920669, 28637675, 22718020, 26976849, 22273710
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
View all (33 more)
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Esophagus neoplasm Esophageal Neoplasms, Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 20729853
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Bulbar palsy progressive bulbar palsy GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Auditory neuropathy Associate 32022482
Brown Vialetto Van Laere syndrome Associate 20206331, 21110228, 22273710, 22740598, 24139842, 26918385, 27702554, 27777325, 28382968, 29950502, 31500345, 33109881, 35418370
Brown Vialetto Van Laere syndrome Stimulate 22098162
Bulbar Palsy Progressive Associate 20206331
Carcinogenesis Associate 22471455, 24761851, 26722538
Carcinogenesis Inhibit 24260322
Carcinoma Squamous Cell Stimulate 24260322
Carcinoma Squamous Cell Associate 24761851
Cardiovascular Diseases Associate 31500345
Cerebellar Ataxia Associate 35418370