SLC52A3 - solute carrier family 52 member 3 Gene

Also Known as RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113278

About SLC52A3

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:760,080-780,033 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 24.2), small intestine (RPKM 7.2) and 7 other tissues.

Summary

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]

SLC52A3 Products (3)

mRNA	Protein	Name
NM_001370085.1	NP_001357014.1	solute carrier family 52, riboflavin transporter, member 3
NM_001370086.1	NP_001357015.1	solute carrier family 52, riboflavin transporter, member 3
NM_033409.4	NP_212134.3	solute carrier family 52, riboflavin transporter, member 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables riboflavin transmembrane transporter activity	IDA IDA: Inferred from direct assay	20463145	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in riboflavin transport	IDA IDA: Inferred from direct assay	20463145	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	20206331	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	29428966	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29428966	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20463145	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

SLC52A3 Protein Structure

DUF1011

0
100
200
300
400
469 a.a.

Protein Preferred Names	Protein Names
solute carrier family 52, riboflavin transporter, member 3	SLC52A3a

SLC52A3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC52A3	Q9NQ40	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	SLC52A3	Q9NQ40	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	SLC52A3	Q9NQ40	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	SLC52A3	Q9NQ40	TOR1A	Homo sapiens	O14656-2	Y2H Array	32814053
Intra	SLC52A3	Q9NQ40	TOR1A	Homo sapiens	O14656-2	Y2H Pooling	32814053
Intra	SLC52A3	Q9NQ40	TOR1A	Homo sapiens	O14656-2	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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
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 2	BVVLS2 Rfvt3-Related Riboflavin Transporter Deficiency Rtd3 Riboflavin Transporter Deficiency 3 Brown-Vialetto-Van Laere Syndrome, Type 2
Brown-Vialetto-Van Laere Syndrome
Madras Motor Neuron Disease	Mmnd
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
Riboflavin Deficiency	Ariboflavinosis Maternal Riboflavin Deficiency RBFVD Vitamin B2 Deficiency Hyporiboflavinosis
Chronic Apical Periodontitis	Apical Periodontitis Nos Apex Periodontitis Periapical Infection Nos
Cardia Cancer	Ca Cardia - Stomach Malignant Neoplasm Of Cardia Of Stomach
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
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
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
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
Gastric Cardia Adenocarcinoma	Adenocarcinoma Of Cardia Of Stomach Adenocarcinoma Of Gastric Cardia
Dry Beriberi
Cranial Nerve Palsy	Cranial Nerve Paralysis Cranial Nerve Diseases Cranial Nerve Palsies

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13279	SLC52A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC52A3	VGNC	VGNC:77717
Mus musculus	SLC52A3	MGD	MGI:1916948
Rattus norvegicus	SLC52A3	RGD	RGD:1304644
Felis catus	SLC52A3	VGNC	VGNC:65397
Bos taurus	SLC52A3	VGNC	VGNC:34902
Canis familiaris	SLC52A3	VGNC	VGNC:46442
Others	SLC52A3	NCBI