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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 nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 52 member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC52A2
SynonymsGene synonyms aliases
BVVLS2, D15Ertd747e, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2, hRFT3
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 IDsOther 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
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
Sequence 
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNL
GLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFV
LALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGT
PGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSF
SCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLS
PCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGA
VAMFPPTSIYHVFHSRKDCADPCDS
Sequence length 445
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Vitamin B2 (riboflavin) metabolism
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573 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, rs778363575, rs797045190, rs879254305, rs782095095, rs1554854044, rs1555783467, rs782305211, rs1564657463, rs1568721373, rs1312209529, rs1586558204, rs1328651461 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, rs104894758, rs104894759, rs104894760, rs121964892, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332, rs104894333, rs104894337, rs1565637179, rs1565637189, rs28931580, rs104894338, rs104894339, rs104894341, rs796052096, rs886040961, rs370879515, rs1057518723, rs1064797077, rs1131690792, rs1557100304, rs772201159, rs149659001, rs770810694, rs1557100594, rs1603282342, rs749468605
Unknown
Disease name Disease term dbSNP ID References
Amyotrophy Generalized amyotrophy, Proximal amyotrophy
Bulbar palsy Bulbar palsy
Cerebral cortical atrophy Cerebral cortical atrophy
Conjunctival telangiectasis Conjunctival telangiectasis

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