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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 cellula... See more...
Aliases for SLC52A2 Gene
Aliases for SLC52A2 Gene
- Solute Carrier Family 52 Member 2 2 3 5
- Solute Carrier Family 52 (Riboflavin Transporter), Member 2 2 3
- Solute Carrier Family 52, Riboflavin Transporter, Member 2 3 4
- 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
External Ids for SLC52A2 Gene
- HGNC: 30224
- Entrez Gene: 79581
- Ensembl: ENSG00000185803
- OMIM: 607882
- UniProtKB: Q9HAB3
Previous HGNC Symbols for SLC52A2 Gene
- GPR172A
Previous GeneCards Identifiers for SLC52A2 Gene
- GC08P145577
Summaries 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 Brown-Vialetto-Van Laere Syndrome. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include virus receptor activity and riboflavin transmembrane transporter activity. An important paralog of this gene is SLC52A1.
UniProtKB/Swiss-Prot Summary for SLC52A2 Gene
-
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, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable).
-
(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
Additional gene information for SLC52A2 Gene
- Monarch Initiative
- Search for SLC52A2 at DataMed
- Search for SLC52A2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC52A2 Gene
Genomics for SLC52A2 Gene
GeneHancer (GH) Regulatory Elements for SLC52A2 Gene
Promoters and enhancers for SLC52A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC52A2 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC52A2
Genomic Locations for SLC52A2 Gene
Genomic Locations for SLC52A2 Gene
- chr8:144,354,135-144,361,286
- (GRCh38/hg38)
- Size:
- 7,152 bases
- Orientation:
- Plus strand
- chr8:145,577,795-145,584,946
- (GRCh37/hg19)
- 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:
-
- 8q24.3 by HGNC
- 8q24.3 by Entrez Gene
- 8q24.3 by Ensembl
SLC52A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A8K6B6
- D3DWL8
- G1UCY1
- Q86UT1
Protein attributes for SLC52A2 Gene
- Size:
- 445 amino acids
- Molecular mass:
- 45777 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC52A2 Gene
Post-translational modifications for SLC52A2 Gene
Other Protein References for SLC52A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PEVR1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC52A2
- Novus Biologicals Antibodies for SLC52A2
- Invitrogen Antibodies for SLC52A2 (AFLGC-SLC52A2)
-
Boster Bio Antibodies for SLC52A2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLC52A2
- Origene Custom Protein Services for SLC52A2
- Novus Biologicals proteins for SLC52A2
No data available for DME Specific Peptides for SLC52A2 Gene
Domains & Families for SLC52A2 Gene
Gene Families for SLC52A2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC52A2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC52A2 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein GPR172A (RFT3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9HAB3- Family:
-
- Belongs to the riboflavin transporter family.
Function for SLC52A2 Gene
Molecular function for SLC52A2 Gene
- UniProtKB/Swiss-Prot 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, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable).
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=riboflavin(in) = riboflavin(out); Xref=Rhea:RHEA:35015, ChEBI:CHEBI:57986; Evidence={ECO:0000269 PubMed:20463145, ECO:0000269 PubMed:22864630, ECO:0000269 PubMed:23243084, ECO:0000269 PubMed:24253200, ECO:0000269 PubMed:27702554};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Riboflavin transport is Na(+)-independent but moderately pH-sensitive (PubMed:20463145). Activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145). Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) (PubMed:20463145).
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.33 uM for riboflavin {ECO:0000269 PubMed:20463145};
Phenotypes From GWAS Catalog 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 transmembrane transporter activity | IDA,IEA | 20463145 |
Phenotypes for SLC52A2 Gene
- MGI mutant phenotypes for SLC52A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SLC52A2:
Animal Models for SLC52A2 Gene
- MGI Knock Outs for SLC52A2:
-
- Slc52a2 Slc52a2<tm1.1(KOMP)Vlcg>
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC52A2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC52A2 - Select products 50% OFF >
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OriGene CRISPR knockouts for SLC52A2
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- genomics-online: gRNA clones - Search results for available GPR172A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC52A2
miRNA for SLC52A2 Gene
- miRTarBase miRNAs that target SLC52A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A2
- genomics-online: shRNA clones - Search results for available GPR172A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SLC52A2 - Select products 50% OFF >
- * SLC52A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC52A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A2
- genomics-online: cdna clones - Search results for available GPR172A gene related products
- orf clones - Search results for available GPR172A gene related products
Cell Line Products
-
Horizon Cell Lines for SLC52A2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA,IEA | 20463145 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC52A2 Gene
Pathways & Interactions for SLC52A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for SLC52A2 Gene
4 Reactome pathways for SLC52A2 Gene
;
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006771 | riboflavin metabolic process | TAS | -- |
| GO:0032218 | riboflavin transport | IDA,IEA | 20463145 |
| GO:0046718 | viral entry into host cell | IEA | -- |
No data available for SIGNOR curated interactions for SLC52A2 Gene
Drugs & Compounds for SLC52A2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| 4-Hydroxybutyric acid | Approved, Illicit, Investigational | Pharma | Full agonist, Agonist, Target, agonist | 0 |
Transcripts for SLC52A2 Gene
mRNA/cDNA for SLC52A2 Gene
- 7 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000329994 1896 bps (ENST00000329994.6)
- ENST00000402965 1777 bps (ENST00000402965.5)
- ENST00000524541 495 bps (ENST00000524541.5)
- ENST00000526338 669 bps (ENST00000526338.6)
- ENST00000526752 724 bps (ENST00000526752.2)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC52A2 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC52A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC52A2
- genomics-online: gRNA clones - Search results for available GPR172A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC52A2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A2
- Browse OriGene Inhibitory RNA Products For SLC52A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A2
- genomics-online: shRNA clones - Search results for available GPR172A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SLC52A2 - Select products 50% OFF >
- * SLC52A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC52A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A2
- genomics-online: cdna clones - Search results for available GPR172A gene related products
- orf clones - Search results for available GPR172A gene related products
| 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
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC52A2
SOURCE GeneReport for Unigene cluster for SLC52A2 Gene:
Hs.6459mRNA 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.
Evidence on tissue expression from TISSUES for SLC52A2 Gene
- Skin(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC52A2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- epiglottis
- eye
- eyelid
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- bronchus
- diaphragm
- esophagus
- lung
- rib
- rib cage
- trachea
Abdomen:
- stomach
Pelvis:
- pelvis
Limb:
- ankle
- hand
- knee
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SLC52A2
-
OriGene qPCR primer pairs and template standards for SLC52A2
- genomics-online: primer clones - Search results for available GPR172A gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GPR172A 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GPR172B 31 |
|
OneToMany | |
| GPR172A 30 |
|
||||
| dog (Canis familiaris) |
Mammalia | SLC52A1 30 |
|
||
| -- 31 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Slc52a2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc52a2 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc52a1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc52a2 30 |
|
||
| CU571162.1 31 |
|
ManyToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11576 31 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | rft-1 31 |
|
ManyToMany | |
| rft-2 31 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1348 31 |
|
OneToMany |
- Species where no ortholog for SLC52A2 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC52A2: view image
Paralogs for SLC52A2 Gene
Variants for SLC52A2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC52A2 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641307 | Conflicting Interpretations: Brown-Vialetto-Van Laere syndrome 2; not provided | 144,360,904(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 642607 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 2 | 144,359,709(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 642807 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 2 | 144,359,794(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 645041 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 2 | 144,359,893(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 645297 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 2 | 144,360,612(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
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)
Additional Variant Information for SLC52A2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC52A2 Gene
Disorders for SLC52A2 Gene
(15) MalaCards diseases for SLC52A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brown-vialetto-van laere syndrome 2 |
|
|
| brown-vialetto-van laere syndrome |
|
|
| spinocerebellar ataxia, autosomal recessive 3 |
|
|
| riboflavin transporter deficiency neuronopathy |
|
|
| brown-vialetto-van laere syndrome 1 |
|
|
Search SLC52A2 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:22864630, ECO:0000269 PubMed:23243084, ECO:0000269 PubMed:24253200, ECO:0000269 PubMed:27702554}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC52A2
No data available for Genatlas for SLC52A2 Gene
Publications for SLC52A2 Gene
- Identification of receptors for pig endogenous retrovirus. (PMID: 12740431) Ericsson TA … Patience C (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 54
- SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. (PMID: 27702554) Udhayabanu T … Ashokkumar B (Clinica chimica acta; international journal of clinical chemistry 2016) 3 4 54
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. (PMID: 24253200) Foley AR … Houlden H (Brain : a journal of neurology 2014) 3 4 54
- Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. (PMID: 20463145) Yao Y … Inui K (The Journal of nutrition 2010) 3 4 54
- Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor. (PMID: 19307586) Mazari PM … Roth MJ (Proceedings of the National Academy of Sciences of the United States of America 2009) 4 23 54
ExternalLinks
Products for SLC52A2 Gene
- Custom Antibody ServicesOriGene Antibodies for SLC52A2
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene Custom Protein Services for SLC52A2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A2
- Browse OriGene Inhibitory RNA Products For SLC52A2
- OriGene qPCR primer pairs for SLC52A2
- OriGene qPCR primer pairs and template standards for SLC52A2
- OriGene CRISPR knockouts for SLC52A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC52A2
- Sino Biological Human cDNA Clone for SLC52A2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SLC52A2
- Novus Biologicals proteins for SLC52A2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for SLC52A2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC52A2 (AFLGC-SLC52A2)
- VectorBuilder Custom and pre-made DNA vectors for SLC52A2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SLC52A2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SLC52A2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SLC52A2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SLC52A2
- antibodies-online: Show 18 available GPR172A Antibodies ranked by validation data
- Compare Top GPR172A Antibodies
- antibodies-online: Show 12 available GPR172A Elisa Kits ranked by validation data
- Compare Top GPR172A Elisa Kits
- antibodies-online: Show 4 available GPR172A Proteins ranked by validation data
- Compare Top GPR172A Proteins
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for SLC52A2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC52A2
- Horizon Cell Lines for SLC52A2
- genomics-online: cdna clones - Search results for available GPR172A gene related products
- orf clones - Search results for available GPR172A gene related products
- genomics-online: gRNA clones - Search results for available GPR172A gene related products
- genomics-online: primer clones - Search results for available GPR172A gene related products
- genomics-online: shRNA clones - Search results for available GPR172A gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC52A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC52A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A2
- Boster Bio Antibodies for SLC52A2
- Browse Boster Bio ELISA Kits
Sources for SLC52A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody