SLC52A2 - solute carrier family 52 member 2 Gene

Also Known as PAR1; RFT3; RFVT2; hRFT3; BVVLS2; GPCR41; GPR172A; HuPAR-1; D15Ertd747e

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79581

About SLC52A2

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,358,552-144,361,272 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 162 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 10.9), stomach (RPKM 8.5) and 25 other tissues.

Summary

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 Products (8)

mRNA	Protein	Name
NM_001253815.2	NP_001240744.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001253816.2	NP_001240745.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363118.2	NP_001350047.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363120.2	NP_001350049.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363121.2	NP_001350050.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1
NM_001363122.2	NP_001350051.1	solute carrier family 52, riboflavin transporter, member 2 isoform 2
NM_001410949.1	NP_001397878.1	solute carrier family 52, riboflavin transporter, member 2 isoform 3
NM_024531.5	NP_078807.1	solute carrier family 52, riboflavin transporter, member 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables 4-hydroxybutyrate receptor activity	IDA IDA: Inferred from direct assay	17197387	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables riboflavin transmembrane transporter activity	IDA IDA: Inferred from direct assay	20463145	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in riboflavin transport	IDA IDA: Inferred from direct assay	20463145	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	17197387	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC52A2 Protein Structure

DUF1011

0
100
200
300
400
445 a.a.

Protein Preferred Names	Protein Names
solute carrier family 52, riboflavin transporter, member 2	G protein-coupled receptor 172A

SLC52A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SLC52A2	Q9HAB3	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	SLC52A2	Q9HAB3	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	SLC52A2	Q9HAB3	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	25416956
Intra	SLC52A2	Q9HAB3	CDC23	Homo sapiens	Q9UJX2	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Brown-Vialetto-Van Laere Syndrome 2	BVVLS2 Rfvt3-Related Riboflavin Transporter Deficiency Rtd3 Riboflavin Transporter Deficiency 3 Brown-Vialetto-Van Laere Syndrome, Type 2
Brown-Vialetto-Van Laere Syndrome 1	BVVLS1 Pontobulbar Palsy With Deafness Bulbar Palsy, Progressive, With Sensorineural Deafness Rfvt2-Related Riboflavin Transporter Deficiency Rtd2 Riboflavin Transporter Deficiency 2 Bulbar Palsy Progressive With Sensorineural Deafness Riboflavin Transporter Deficiency Type 2 Brown-Vialetto-Van Laere Syndrome, Type 1 Brown-Vialetto-Van Laere Syndrome
Riboflavin Transporter Deficiency	Brown-Vialetto-Van Laere Syndrome Pontobulbar Palsy And Neurosensory Deafness Progressive Bulbar Palsy Bvvls Pontobulbar Palsy With Deafness Progressive Bulbar Palsy With Sensorineural Deafness Progressive Bulbar Atrophy
Brown-Vialetto-Van Laere Syndrome
Fazio-Londe Disease	Fazio-Londe Syndrome Riboflavin Transporter Deficiency Neuronopathy Brown-Vialetto-Van Laere Syndrome Progressive Bulbar Palsy Of Childhood Bulbar Palsy, Progressive, Of Childhood Bvvls Pontobulbar Palsy With Deafness Progressive Bulbar Palsy With Sensorineural Deafness Riboflavin Transporter Deficiency FALOND Bulbar Palsy Progressive Of Childhood Bulbar Palsy Of Childhood, Progressive
Progressive Bulbar Palsy	Bulbar Palsy, Progressive Progressive Bulbar Atrophy Bulbar Palsy Pbp - [Progressive Bulbar Palsy] Progressive Bulbar Paralysis Bulbar Paralysis Chronic Bulbar Palsy Chronic Bulbar Paralysis Supranuclear Bulbar Paralysis
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome Type 4b WS4B Waardenburg Syndrome Type Ivb Waardenburg Syndrome With Hirschsprung Disease Type 4b Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb Waardenburg Syndrome 4b Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Chronic Apical Periodontitis	Apical Periodontitis Nos Apex Periodontitis Periapical Infection Nos
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Mitochondrial Complex Iii Deficiency Nuclear Type 2 MC3DN2 Mitochondrial Complex Ii Deficiency, Nuclear Type 3 MC2DN3 Mitochondrial Complex 2 Deficiency, Nuclear Type 3 Mitochondrial Complex Iii Deficiency, Nuclear 2
Deafness, Dystonia, And Cerebral Hypomyelination	Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome DDCH Cadds Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome Contiguous Abcd1 Dxs1357e Deletion Syndrome Zellweger-Like Contiguous Gene Deletion Syndrome Contiguous Abcd1/Dxs1375e Deletion Syndrome Deafness, Dystonia, Cerebral Hypomyelination Contiguous Abcd1-Dxs1375e Deletion Syndrome
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Dry Beriberi
Hypotonia
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS13278	SLC52A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21258	Slc52a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27777	Slc52a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC52A2	VGNC	VGNC:77794
Rattus norvegicus	SLC52A2	RGD	RGD:1560410
Mus musculus	SLC52A2	MGD	MGI:1289288
Others	SLC52A2	NCBI