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Aliases for SLC52A2 Gene

Aliases for SLC52A2 Gene

  • Solute Carrier Family 52 Member 2 2 3
  • Solute Carrier Family 52 (Riboflavin Transporter), Member 2 2 3 5
  • Porcine Endogenous Retrovirus A Receptor 1 3 4
  • G Protein-Coupled Receptor 172A 2 3
  • Riboflavin Transporter 3 3 4
  • PERV-A Receptor 1 3 4
  • GPR172A 3 4
  • HRFT3 3 4
  • PAR1 3 4
  • RFT3 3 4
  • Putative G-Protein Coupled Receptor GPCR41 3
  • Protein GPR172A 4
  • D15Ertd747e 3
  • BVVLS2 3
  • GPCR41 3
  • RFVT2 3

External Ids for SLC52A2 Gene

Previous HGNC Symbols for SLC52A2 Gene

  • GPR172A

Previous GeneCards Identifiers for SLC52A2 Gene

  • GC08P145577

Summaries for SLC52A2 Gene

Entrez Gene Summary for SLC52A2 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 coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]

GeneCards Summary for SLC52A2 Gene

SLC52A2 (Solute Carrier Family 52 Member 2) is a Protein Coding gene. Diseases associated with SLC52A2 include brown-vialetto-van laere syndrome 2 and lichtenstein-knorr syndrome. GO annotations related to this gene include virus receptor activity and riboflavin transporter activity. An important paralog of this gene is SLC52A3.

UniProtKB/Swiss-Prot for SLC52A2 Gene

  • Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC52A2 Gene

Genomics for SLC52A2 Gene

Regulatory Elements for SLC52A2 Gene

Promoters for SLC52A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC52A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC52A2 Gene

Chromosome:
8
Start:
144,354,135 bp from pter
End:
144,361,286 bp from pter
Size:
7,152 bases
Orientation:
Plus strand

Genomic View for SLC52A2 Gene

Genes around SLC52A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC52A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC52A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC52A2 Gene

Proteins for SLC52A2 Gene

  • Protein details for SLC52A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAB3-S52A2_HUMAN
    Recommended name:
    Solute carrier family 52, riboflavin transporter, member 2
    Protein Accession:
    Q9HAB3
    Secondary Accessions:
    • A8K6B6
    • D3DWL8
    • G1UCY1
    • Q86UT1

    Protein attributes for SLC52A2 Gene

    Size:
    445 amino acids
    Molecular mass:
    45777 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC52A2 Gene

Proteomics data for SLC52A2 Gene at MOPED

Post-translational modifications for SLC52A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SLC52A2 Gene

Domains & Families for SLC52A2 Gene

Gene Families for SLC52A2 Gene

Protein Domains for SLC52A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC52A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAB3

UniProtKB/Swiss-Prot:

S52A2_HUMAN :
  • Belongs to the riboflavin transporter family.
Family:
  • Belongs to the riboflavin transporter family.
genes like me logo Genes that share domains with SLC52A2: view

Function for SLC52A2 Gene

Molecular function for SLC52A2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.33 uM for riboflavin {ECO:0000269 PubMed:20463145};
UniProtKB/Swiss-Prot Function:
Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).

Gene Ontology (GO) - Molecular Function for SLC52A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032217 riboflavin transporter activity IDA 20463145
genes like me logo Genes that share ontologies with SLC52A2: view
genes like me logo Genes that share phenotypes with SLC52A2: view

Human Phenotype Ontology for SLC52A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC52A2 Gene

MGI Knock Outs for SLC52A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC52A2

CRISPR Products

miRNA for SLC52A2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC52A2 Gene

Localization for SLC52A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC52A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC52A2 Gene COMPARTMENTS Subcellular localization image for SLC52A2 gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for SLC52A2 Gene

Pathways & Interactions for SLC52A2 Gene

SuperPathways for SLC52A2 Gene

No Data Available

Interacting Proteins for SLC52A2 Gene

Selected Interacting proteins: Q9HAB3-S52A2_HUMAN for SLC52A2 Gene via UniProtKB

Symbol External ID(s) Details
CDC23

Gene Ontology (GO) - Biological Process for SLC52A2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SLC52A2 Gene

Drugs & Compounds for SLC52A2 Gene

(2) Drugs for SLC52A2 Gene - From: Novoseek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gamma Hydroxybutyric Acid Approved, Illicit Pharma Target, agonist 0
genes like me logo Genes that share compounds with SLC52A2: view

Transcripts for SLC52A2 Gene

Unigene Clusters for SLC52A2 Gene

Solute carrier family 52, riboflavin transporter, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC52A2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - - - - - - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:

Relevant External Links for SLC52A2 Gene

GeneLoc Exon Structure for
SLC52A2
ECgene alternative splicing isoforms for
SLC52A2

Expression for SLC52A2 Gene

mRNA expression in normal human tissues for SLC52A2 Gene

Protein differential expression in normal tissues from HIPED for SLC52A2 Gene

This gene is overexpressed in Lung (40.6) and Fetal Brain (28.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC52A2 Gene



SOURCE GeneReport for Unigene cluster for SLC52A2 Gene Hs.6459

mRNA Expression by UniProt/SwissProt for SLC52A2 Gene

Q9HAB3-S52A2_HUMAN
Tissue specificity: Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues.
genes like me logo Genes that share expression patterns with SLC52A2: view

Protein tissue co-expression partners for SLC52A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SLC52A2 Gene

Orthologs for SLC52A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC52A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR172A 35
  • 99.48 (n)
  • 99.33 (a)
GPR172A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPR172B 36
  • 85 (a)
OneToMany
GPR172A 35
  • 84.5 (n)
  • 85.1 (a)
dog
(Canis familiaris)
Mammalia SLC52A1 35
  • 82.55 (n)
  • 84.49 (a)
-- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Slc52a2 16
Slc52a2 35
  • 80.88 (n)
  • 83.45 (a)
Slc52a2 36
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc52a2 35
  • 80.27 (n)
  • 81.41 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc52a1 35
  • 59.7 (n)
  • 56.34 (a)
zebrafish
(Danio rerio)
Actinopterygii CU571162.1 36
  • 37 (a)
ManyToMany
slc52a2 35
  • 55.15 (n)
  • 54.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11576 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rft-1 36
  • 32 (a)
ManyToMany
rft-2 36
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1348 36
  • 31 (a)
OneToMany
Species with no ortholog for SLC52A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC52A2 Gene

ENSEMBL:
Gene Tree for SLC52A2 (if available)
TreeFam:
Gene Tree for SLC52A2 (if available)

Paralogs for SLC52A2 Gene

Paralogs for SLC52A2 Gene

(3) SIMAP similar genes for SLC52A2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SLC52A2: view

Variants for SLC52A2 Gene

Sequence variations from dbSNP and Humsavar for SLC52A2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_068694 Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)
rs72695500 -- 144,360,779(+) ACGCT(C/G/T)AGCTG intron-variant
rs138107380 -- 144,360,654(+) TGGCG(C/T)TGGCA nc-transcript-variant, reference, synonymous-codon
rs116378047 -- 144,360,538(+) GGGCT(A/G)GGAGC intron-variant
rs140177553 -- 144,360,916(+) ATCCA(A/G)GTGGG nc-transcript-variant, reference, synonymous-codon

Variation tolerance for SLC52A2 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC52A2 Gene

HapMap Linkage Disequilibrium report
SLC52A2
Human Gene Mutation Database (HGMD)
SLC52A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC52A2 Gene

Disorders for SLC52A2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC52A2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brown-vialetto-van laere syndrome 2
  • bvvls2
lichtenstein-knorr syndrome
  • autosomal recessive spinocerebellar ataxia 19
brown-vialetto-van laere syndrome
  • bvvls
riboflavin transporter deficiency neuronopathy
  • fazio-londe disease
riboflavin transporter deficiency
  • brown-vialetto-van laere syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S52A2_HUMAN
  • Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]: An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation. {ECO:0000269 PubMed:22740598}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC52A2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC52A2
genes like me logo Genes that share disorders with SLC52A2: view

No data available for Genatlas for SLC52A2 Gene

Publications for SLC52A2 Gene

  1. Identification of receptors for pig endogenous retrovirus. (PMID: 12740431) Ericsson T.A. … Patience C. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. (PMID: 24616084) Srour M. … Brais B. (Muscle Nerve 2014) 3
  4. CHIP-MYTH: a novel interactive proteomics method for the assessment of agonist-dependent interactions of the human I^a88-adrenergic receptor. (PMID: 24561123) Kittanakom S. … Stagljar I. (Biochem. Biophys. Res. Commun. 2014) 3
  5. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. (PMID: 24253200) Foley A.R. … Houlden H. (Brain 2014) 3

Products for SLC52A2 Gene

Sources for SLC52A2 Gene

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