SLC52A2 (solute carrier family 52 member 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79581
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 52 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC52A2
Synonyms (NCBI Gene) Gene synonyms aliases
BVVLS2, D15Ertd747e, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2, hRFT3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BVVLS2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs148234606 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs368924997 G>A Pathogenic, pathogenic-likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs397514658 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs879254305 G>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691969 C>G,T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT023237 hsa-miR-122-5p Microarray 17612493
MIRT025663 hsa-miR-7-5p Microarray 19073608
MIRT026995 hsa-miR-103a-3p Sequencing 20371350
MIRT030432 hsa-miR-24-3p Microarray 19748357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005886 Component Plasma membrane IDA 17197387, 27702554
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607882 30224 ENSG00000185803
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9HAB3
Protein name Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 3) (hRFT3)
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
PDB 8XSM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06237 DUF1011 273 → 371 Protein of unknown function (DUF1011) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues. {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:20463145}.
Sequence 
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNL
GLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFV
LALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGT
PGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSF
SCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLS
PCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGA
VAMFPPTSIYHVFHSRKDCADPCDS
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Vitamin B2 (riboflavin) metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal
Disease term Disease name dbSNP ID References
Spinocerebellar ataxia Ataxia, Spinocerebellar, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)		 26669662
Brown-vialetto-van laere syndrome Brown-Vialetto-Van Laere Syndrome 1, BROWN-VIALETTO-VAN LAERE SYNDROME 2 rs794728004, rs267606683, rs267606685, rs267606688, rs398124641, rs397514538, rs148234606, rs397514657, rs398123067, rs398123068, rs375088539, rs374071862, rs754320812, rs368924997, rs754753126
View all (12 more)		 22740598, 29053833, 25807286, 22864630, 27148561, 25798182, 22824638, 24253200, 24616084, 23243084, 25133958, 20463145, 27702554, 26669662
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
View all (33 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Show/Hide Text Mining Associations (29)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Macrocytic Associate 35441393
Ataxia Associate 24253200
Brain Stem Neoplasms Associate 31064337
Brown Vialetto Van Laere syndrome Associate 22864630, 24139842, 24253200, 26918385, 27702554, 27777325, 28382968, 31064337, 31500345, 33109881, 33929122, 35441393, 37786244
Bulbar Palsy Progressive Associate 33109881
Carcinoma Hepatocellular Associate 36550445
Cranial Nerve Diseases Associate 24253200
Deglutition Disorders Associate 31064337
Diabetic Neuropathies Associate 33109881
Dyspnea Associate 31064337