SLC52A2 (solute carrier family 52 member 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79581
Gene name Solute carrier family 52 member 2
Gene symbol SLC52A2
Synonyms (NCBI Gene)
BVVLS2D15Ertd747eGPCR41GPR172AHuPAR-1PAR1RFT3RFVT2hRFT3
Chromosome 8
Chromosome location 8q24.3
Summary 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.
5
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.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
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 IBA
GO:0005886 Component Plasma membrane IDA 17197387, 20463145, 27702554
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607882 30224 ENSG00000185803
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Auditory neuropathy spectrum disorder Pathogenic rs1374925248 RCV003984983
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brown-Vialetto-van Laere syndrome 1 Pathogenic rs375088539 RCV002272152
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brown-Vialetto-van Laere syndrome 2 Pathogenic; Likely pathogenic rs398123067, rs398123068, rs1818749427, rs1554854341, rs2130638836, rs375088539, rs781865550, rs374071862, rs754320812, rs368924997, rs879254305, rs1818749779, rs2489039522, rs2489035158, rs2489042181
View all (14 more)		 RCV000082864
RCV000082865
RCV001383060
RCV001994370
RCV001972860
View all (25 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease Pathogenic rs398124641, rs397514538 RCV005624709
RCV005624715
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BROWN-VIALETTO-VAN LAERE SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (192)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28173772, 28187035, 30196987
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 11964083, 18366077, 31048498
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 25163932
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 29182653
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Macrocytic Macrocytic anemia Pubtator 35441393 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28088683
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28088683
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30511258
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 24385683
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 12589358
★★★★★
★☆☆☆☆
Found in Text Mining only