Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe d... See more...
Aliases for SLC52A3 Gene
Aliases for SLC52A3 Gene
External Ids for SLC52A3 Gene
- HGNC: 16187
- Entrez Gene: 113278
- Ensembl: ENSG00000101276
- OMIM: 613350
- UniProtKB: Q9NQ40
Previous HGNC Symbols for SLC52A3 Gene
- C20orf54
Summaries for SLC52A3 Gene
-
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
GeneCards Summary for SLC52A3 Gene
SLC52A3 (Solute Carrier Family 52 Member 3) is a Protein Coding gene. Diseases associated with SLC52A3 include Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Gene Ontology (GO) annotations related to this gene include riboflavin transmembrane transporter activity. An important paralog of this gene is SLC52A1.
UniProtKB/Swiss-Prot Summary for SLC52A3 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:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
Additional gene information for SLC52A3 Gene
- HGNC(16187)
- Entrez Gene(113278)
- Ensembl(ENSG00000101276)
- OMIM(613350)
- UniProtKB(Q9NQ40)
- Open Targets Platform(ENSG00000101276)
- Monarch Initiative
- Search for SLC52A3 at DataMed
- Search for SLC52A3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC52A3 Gene
Genomics for SLC52A3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC52A3 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 SLC52A3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC52A3
Genomic Locations for SLC52A3 Gene
Genomic Locations for SLC52A3 Gene
- chr20:760,080-776,015
- (GRCh38/hg38)
- Size:
- 15,936 bases
- Orientation:
- Minus strand
- chr20:740,724-749,228
- (GRCh37/hg19)
- Size:
- 8,505 bases
- Orientation:
- Minus strand
Genomic View for SLC52A3 Gene
Genes around SLC52A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p13 by HGNC
- 20p13 by Entrez Gene
- 20p13 by Ensembl
SLC52A3 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 SLC52A3 Gene
Proteins for SLC52A3 Gene
-
Protein details for SLC52A3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NQ40-S52A3_HUMAN
- Recommended name:
- Solute carrier family 52, riboflavin transporter, member 3
- Protein Accession:
- Q9NQ40
- A0A2I6BQ49
- A8K6P1
- K0A6P4
- Q5W1A0
- Q5W1A1
- Q8NCL7
- Q96GD5
Protein attributes for SLC52A3 Gene
- Size:
- 469 amino acids
- Molecular mass:
- 50805 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC52A3 Gene
Post-translational modifications for SLC52A3 Gene
Other Protein References for SLC52A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO Anti-CT054 Antibody
- Novus Biologicals Antibodies for SLC52A3
- Invitrogen Antibodies for SLC52A3 (AFLGC-SLC52A3)
- Sino Biological Antibodies for SLC52A3
Protein Products
-
OriGene Purified Proteins for SLC52A3
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC52A3
- Origene Custom Protein Services for SLC52A3
- Novus Biologicals proteins for SLC52A3
No data available for DME Specific Peptides for SLC52A3 Gene
Domains & Families for SLC52A3 Gene
Gene Families for SLC52A3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLC52A3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC52A3 Gene
- GenScript: Design optimal peptide antigens:
-
- Riboflavin transporter 2 (RFT2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NQ40- Family:
-
- Belongs to the riboflavin transporter family.
Function for SLC52A3 Gene
Molecular function for SLC52A3 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:22273710, PubMed:24264046, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=riboflavin(in) = riboflavin(out); Xref=Rhea:RHEA:35015, ChEBI:CHEBI:57986; Evidence={ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:24264046, ECO:0000269|PubMed:27702554};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.98 uM for riboflavin {ECO:0000269|PubMed:20463145};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride. Riboflavin transport is Na(+)-independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions.
Phenotypes From GWAS Catalog for SLC52A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032217 | riboflavin transmembrane transporter activity | IDA | 20463145 |
Phenotypes for SLC52A3 Gene
- MGI mutant phenotypes for SLC52A3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC52A3:
Animal Models for SLC52A3 Gene
- MGI Knock Outs for SLC52A3:
-
- Slc52a3 Slc52a3<tm2a(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC52A3 - Select products 50% OFF >
- * SLC52A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC52A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC52A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC52A3
miRNA for SLC52A3 Gene
- miRTarBase miRNAs that target SLC52A3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A3
- Browse OriGene Inhibitory RNA Products For SLC52A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A3
Clone Products
- Applied Biological Materials (abm): Clones for SLC52A3 - Select products 50% OFF >
- * SLC52A3 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
-
- MG203182
- MG213700
- MG213707
- MR203182
- MR203182L3
- MR203182L4
- MR213700
- MR213700L3
- MR213700L4
- MR213707
- MR213707L3
- MR213707L4
- RC202537
- RC202537L3
- RC202537L4
- RG202537
- RR205605
- RR205605L3
- RR205605L4
- MR203182L3V
- MR203182L4V
- MR213700L3V
- MR213700L4V
- MR213707L3V
- MR213707L4V
- RC202537L3V
- RC202537L4V
- RR205605L3V
- RR205605L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC52A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A3
Cell Line Products
-
Horizon Cell Lines for SLC52A3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC52A3 Gene
Localization for SLC52A3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC52A3 Gene
- Apical cell membrane. Multi-pass membrane protein. Cell membrane.
- [Isoform 1]: Cell membrane. Multi-pass membrane protein. Nucleus membrane. Multi-pass membrane protein. Cytoplasm.
- [Isoform 2]: Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| mitochondrion | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA | 20463145 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC52A3 Gene
Pathways & Interactions for SLC52A3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Vitamin digestion and absorption | ||
| 3 | Metabolism |
.40
|
|
Pathways by source for SLC52A3 Gene
4 Reactome pathways for SLC52A3 Gene
1 KEGG pathway for SLC52A3 Gene
Interacting Proteins for SLC52A3 Gene
GPS-Prot Interaction Network for SLC52A3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006771 | riboflavin metabolic process | TAS | -- |
| GO:0007605 | sensory perception of sound | IMP | 20206331 |
| GO:0032218 | riboflavin transport | IDA | 20463145 |
| GO:0034605 | cellular response to heat | IEA | -- |
No data available for SIGNOR curated interactions for SLC52A3 Gene
Transcripts for SLC52A3 Gene
mRNA/cDNA for SLC52A3 Gene
- 3 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000217254 2654 nts (view in UCSC)
- ENST00000381944 3206 nts (view in UCSC)
- ENST00000473664 957 nts (view in UCSC)
- ENST00000488495 3065 nts (view in UCSC)
- ENST00000645534 2611 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC52A3 - Select products 50% OFF >
- * SLC52A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC52A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC52A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC52A3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A3
- Browse OriGene Inhibitory RNA Products For SLC52A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A3
Clone Products
- Applied Biological Materials (abm): Clones for SLC52A3 - Select products 50% OFF >
- * SLC52A3 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
-
- MG203182
- MG213700
- MG213707
- MR203182
- MR203182L3
- MR203182L4
- MR213700
- MR213700L3
- MR213700L4
- MR213707
- MR213707L3
- MR213707L4
- RC202537
- RC202537L3
- RC202537L4
- RG202537
- RR205605
- RR205605L3
- RR205605L4
- MR203182L3V
- MR203182L4V
- MR213700L3V
- MR213700L4V
- MR213707L3V
- MR213707L4V
- RC202537L3V
- RC202537L4V
- RR205605L3V
- RR205605L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC52A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A3
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||
| SP2: | - | ||||||||||||
| SP3: |
Relevant External Links for SLC52A3 Gene
- GeneLoc Exon Structure for
- SLC52A3
Expression for SLC52A3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
- Proximal Tubule
- Epithelial Tubule
- Metanephros
-
Epithelial Cells
- Proximal Tubule Cells Proximal Tubule
mRNA differential expression in normal tissues according to GTEx for SLC52A3 Gene
This gene is overexpressed in Testis (x12.0).
This gene is overexpressed in Testis (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC52A3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC52A3
SOURCE GeneReport for Unigene cluster for SLC52A3 Gene:
Hs.283865mRNA Expression by UniProt/SwissProt for SLC52A3 Gene:
Q9NQ40-S52A3_HUMAN
Tissue specificity:
Predominantly expressed in testis. Highly expressed in small intestine and prostate.
Evidence on tissue expression from TISSUES for SLC52A3 Gene
- Pancreas(4)
- Intestine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC52A3 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
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SLC52A3
-
OriGene qPCR primer pairs and template standards for SLC52A3
Gene Expression Assay Products
Orthologs for SLC52A3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC52A3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc52a3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Slc52a3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC52A3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C20H20ORF54 30 |
|
||
| SLC52A3 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | SLC52A3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486825 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc52a3 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2663 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11576 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000181 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y47D7A.16 30 |
|
||
| rft-1 31 |
|
ManyToMany | |||
| rft-2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1348 31 |
|
OneToMany |
- Species where no ortholog for SLC52A3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 SLC52A3 Gene
- ENSEMBL:
- Gene Tree for SLC52A3 (if available)
- TreeFam:
- Gene Tree for SLC52A3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC52A3: view image
Paralogs for SLC52A3 Gene
Variants for SLC52A3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC52A3 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639327 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 765,448(-) | C/A | MISSENSE_VARIANT | |
| 642283 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 765,276(-) | C/T | MISSENSE_VARIANT | |
| 642968 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 761,738(-) | G/A | MISSENSE_VARIANT | |
| 645920 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 761,097(-) | TGAGCAGCGCTCC/T | INFRAME_DELETION | |
| 648925 | Uncertain Significance: Brown-Vialetto-Van Laere syndrome 1 | 763,768(-) | C/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3644952 | CNV | gain | 21293372 |
| esv3644961 | CNV | loss | 21293372 |
| nsv1062082 | CNV | gain | 25217958 |
| nsv1067424 | CNV | gain | 25217958 |
| nsv516278 | CNV | loss | 19592680 |
| nsv585191 | CNV | gain | 21841781 |
| nsv585192 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.88;
87.06% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC52A3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC52A3 Gene
Disorders for SLC52A3 Gene
(18) MalaCards diseases for SLC52A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brown-vialetto-van laere syndrome 1 |
|
|
| fazio-londe disease |
|
|
| brown-vialetto-van laere syndrome 2 |
|
|
| brown-vialetto-van laere syndrome |
|
|
| progressive bulbar palsy |
|
|
Search SLC52A3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
S52A3_HUMAN- Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. {ECO:0000269 PubMed:20206331, ECO:0000269 PubMed:20920669, ECO:0000269 PubMed:21110228, ECO:0000269 PubMed:22273710, ECO:0000269 PubMed:22633641, ECO:0000269 PubMed:22718020, ECO:0000269 PubMed:22824638, ECO:0000269 PubMed:27702554}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. {ECO:0000269 PubMed:21110228}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLC52A3
No data available for Genatlas for SLC52A3 Gene
Publications for SLC52A3 Gene
- Identification and functional characterization of rat riboflavin transporter 2. (PMID: 19122205) Yamamoto S … Yuasa H (Journal of biochemistry 2009) 2 3 4
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 2 3 4
- SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer. (PMID: 29428966) Long L … Xu LY (Cellular and molecular life sciences : CMLS 2018) 3 4
- Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption. (PMID: 24264046) Yoshimatsu H … Matsubara K (American journal of physiology. Gastrointestinal and liver physiology 2014) 3 4
- Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (PMID: 22718020) Dezfouli MA … Elahi E (Journal of human genetics 2012) 3 4
ExternalLinks
Products for SLC52A3 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SLC52A3
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC52A3
- Origene Custom Protein Services for SLC52A3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC52A3
- Browse OriGene Inhibitory RNA Products For SLC52A3
- OriGene qPCR primer pairs for SLC52A3
- OriGene qPCR primer pairs and template standards for SLC52A3
- OriGene CRISPR knockouts for SLC52A3
- MG203182
- MG213700
- MG213707
- MR203182
- MR203182L3
- MR203182L4
- MR213700
- MR213700L3
- MR213700L4
- MR213707
- MR213707L3
- MR213707L4
- RC202537
- RC202537L3
- RC202537L4
- RG202537
- RR205605
- RR205605L3
- RR205605L4
- MR203182L3V
- MR203182L4V
- MR213700L3V
- MR213700L4V
- MR213707L3V
- MR213707L4V
- RC202537L3V
- RC202537L4V
- RR205605L3V
- RR205605L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC52A3
- Sino Biological Human cDNA Clone for SLC52A3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SLC52A3
- Browse Sino Biological Assays
- Browse Antibodies
- 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 SLC52A3
- Novus Biologicals proteins for SLC52A3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for SLC52A3 (AFLGC-SLC52A3)
- VectorBuilder Custom and pre-made DNA vectors for SLC52A3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SLC52A3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SLC52A3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SLC52A3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SLC52A3
- antibodies-online: Show 8 available SLC52A3 Antibodies ranked by validation data
- Compare Top SLC52A3 Antibodies
- antibodies-online: Search results for available SLC52A3 related products ranked by validation data
- antibodies-online: Search results for available SLC52A3 related products ranked by validation data
- Horizon Cell Lines for SLC52A3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC52A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC52A3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC52A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC52A3
Sources for SLC52A3 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) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB