SLC52A3 - solute carrier family 52 member 3 Gene

Homo sapiens

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

Gene ID: 113278 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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