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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 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]
SLC52A2 (Solute Carrier Family 52 Member 2) is a Protein Coding gene. Diseases associated with SLC52A2 include Brown-Vialetto-Van Laere Syndrome 2 and Spinocerebellar Ataxia, Autosomal Recessive 3. 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.
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 | IEA,IDA | 20463145 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,IDA | 20463145 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006771 | riboflavin metabolic process | TAS | -- |
GO:0032218 | riboflavin transport | IEA,IDA | 20463145 |
GO:0046718 | viral entry into host cell | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
4-Hydroxybutyric acid | Approved, Illicit, Investigational | Pharma | Target, agonist | 0 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPR172A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPR172B 31 |
|
OneToMany | |
GPR172A 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | SLC52A1 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Slc52a2 30 17 31 |
|
OneToMany | |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brown-vialetto-van laere syndrome 2 |
|
|
spinocerebellar ataxia, autosomal recessive 3 |
|
|
brown-vialetto-van laere syndrome 1 |
|
|
brown-vialetto-van laere syndrome |
|
|
progressive bulbar palsy |
|
|