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Aliases for SLC52A2 Gene

Aliases for SLC52A2 Gene

  • Solute Carrier Family 52 (Riboflavin Transporter), Member 2 2 3
  • GPR172A 3 4 6
  • PAR1 3 4 6
  • 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
  • BVVLS2 3 6
  • GPCR41 3 6
  • HRFT3 3 4
  • RFT3 3 4
  • Solute Carrier Family 52, Riboflavin Transporter, Member 2 3
  • Putative G-Protein Coupled Receptor GPCR41 3
  • Protein GPR172A 4
  • D15Ertd747e 3
  • FLJ11856 6
  • 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 (Riboflavin Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC52A2 include brown-vialetto-van laere syndrome 2 and brown-vialetto-van laere 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC52A2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC52A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC52A2 Gene

No data available for Regulatory Elements 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

No data available for DME Specific Peptides for SLC52A2 Gene

Domains for SLC52A2 Gene

Gene Families for SLC52A2 Gene

HGNC:
  • SLC :Solute carriers

Protein Domains for SLC52A2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9HAB3

UniProtKB/Swiss-Prot:

S52A2_HUMAN :
  • Q9HAB3
Family:
  • Belongs to the riboflavin transporter family.
genes like me logo Genes that share domains with SLC52A2: view

No data available for Suggested Antigen Peptide Sequences for SLC52A2 Gene

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:0001618 virus receptor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0032217 riboflavin transporter activity IDA 20463145
genes like me logo Genes that share ontologies with SLC52A2: view

Animal Model Products

CRISPR Products

miRNA for SLC52A2 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC52A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for SLC52A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 20463145
genes like me logo Genes that share ontologies with SLC52A2: view

No data available for Subcellular locations from COMPARTMENTS for SLC52A2 Gene

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0009615 response to virus --
GO:0032218 riboflavin transport IDA 20463145
GO:0046718 viral entry into host cell IEA --
genes like me logo Genes that share ontologies with SLC52A2: view

No data available for Pathways by source for SLC52A2 Gene

Compounds for SLC52A2 Gene

(1) Novoseek inferred chemical compound relationships for SLC52A2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 0 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC52A2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with SLC52A2: view

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 GPR172A 35
  • 84.5 (n)
  • 85.1 (a)
GPR172B 36
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 68 (a)
OneToMany
SLC52A1 35
  • 82.55 (n)
  • 84.49 (a)
mouse
(Mus musculus)
Mammalia Slc52a2 35
  • 80.88 (n)
  • 83.45 (a)
Slc52a2 16
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

Selected 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 MAF
rs4319140 -- 144,361,731(-) TGTCT(C/T)TTCTG downstream-variant-500B
rs11546261 -- 144,361,071(+) CTGCC(A/G)CCATG utr-variant-3-prime, nc-transcript-variant
rs11546262 -- 144,361,137(+) ACACT(C/T)CATAG utr-variant-3-prime, nc-transcript-variant
rs34383175 -- 144,361,034(+) GGGAC(C/T)CCGCT utr-variant-3-prime, nc-transcript-variant
rs72695500 -- 144,360,779(+) ACGCT(C/T)AGCTG intron-variant

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

MalaCards: The human disease database. (3) Diseases for SLC52A2 Gene including...

Search for SLC52A2 Gene in MalaCards »

(1) OMIM Diseases for SLC52A2 Gene (607882)

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.
genes like me logo Genes that share disorders with SLC52A2: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor. (PMID: 19307586) Mazari P.M. … Roth M.J. (Proc. Natl. Acad. Sci. U.S.A. 2009) 4 23
  5. Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. (PMID: 20463145) Yao Y. … Inui K. (J. Nutr. 2010) 3 4

Products for SLC52A2 Gene

Sources for SLC52A2 Gene

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