SLC19A3 - solute carrier family 19 member 3 Gene

Also Known as BBGD; THMD2; THTR2; hTHTR2; thTr-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80704

About SLC19A3

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,683,763-227,718,028 (from NCBI)

This gene has 15 transcripts (splice variants), 265 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in fat (RPKM 29.6), placenta (RPKM 8.5) and 5 other tissues.

Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

SLC19A3 Products (5)

mRNA	Protein	Name
NM_001371411.1	NP_001358340.1	thiamine transporter 2 isoform 1
NM_001371412.1	NP_001358341.1	thiamine transporter 2 isoform 1
NM_001371413.1	NP_001358342.1	thiamine transporter 2 isoform 2
NM_001371414.1	NP_001358343.1	thiamine transporter 2 isoform 2
NM_025243.4	NP_079519.1	thiamine transporter 2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in pyridoxine transport	IDA IDA: Inferred from direct assay	33008889	GOA
involved in pyridoxine transport	IMP IMP: Inferred from mutant phenotype	35724964	GOA
involved in thiamine transport	IDA IDA: Inferred from direct assay	11731220	GOA
involved in thiamine transport	IMP IMP: Inferred from mutant phenotype	35724964	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

SLC19A3 Protein Structure

Folate_carrier

0
100
200
300
400
496 a.a.

Protein Preferred Names	Protein Names
thiamine transporter 2	solute carrier family 19 (thiamine transporter), member 3

SLC19A3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC19A3	Q9BZV2	TMEM242	Homo sapiens	Q9NWH2	Y2H Array	32296183
Intra	SLC19A3	Q9BZV2	TMEM242	Homo sapiens	Q9NWH2	Validated Y2H	32296183
Intra	SLC19A3	Q9BZV2	TMEM242	Homo sapiens	Q9NWH2	Y2H Prey Pooling	32296183
Intra	SLC19A3	Q9BZV2	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	SLC19A3	Q9BZV2	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	SLC19A3	Q9BZV2	TMEM14A	Homo sapiens	Q9Y6G1	Validated Y2H	32296183
Intra	SLC19A3	Q9BZV2	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	SLC19A3	Q9BZV2	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	SLC19A3	Q9BZV2	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Thiamine Metabolism Dysfunction Syndrome 2	Biotin-Responsive Basal Ganglia Disease Basal Ganglia Disease, Biotin-Responsive THMD2 Bbgd Btbgd Encephalopathy, Thiamine-Responsive Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type Thiamine-Responsive Encephalopathy
Biotin-Thiamine-Responsive Basal Ganglia Disease	Biotin-Responsive Basal Ganglia Disease Bbgd Btbgd Thiamine Transporter-2 Deficiency Thiamine-Responsive Encephalopathy Thiamine Metabolism Dysfunction Syndrome-2 Thiamine Metabolism Dysfunction Syndrome 2 Thmd2 Basal Ganglia Disease, Biotin-Responsive
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Thiamine Deficiency Disease
Dry Beriberi
Wet Beriberi
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Thiamine-Responsive Megaloblastic Anemia Syndrome	TRMA Rogers Syndrome Thiamine-Responsive Myelodysplasia Thiamine-Responsive Anemia Syndrome Thiamine Metabolism Dysfunction Syndrome 1 Thmd1 Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia Thiamine-Responsive Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Beriberi	Thiamine Deficiency Vitamin B1 Deficiency Aneurin Deficiency Thiamine Vitamin Deficiency Beriberi Nos Beriberi Due To Vitamin B1 Deficiency Beriberi Due To Thiamine Vitamin Deficiency Kakkè
Wernicke-Korsakoff Syndrome	Korsakoff Syndrome Transketolase Defect Korsakoff'S Syndrome Alcohol-Induced Encephalopathy Korsakoff'S Psychosis Korsakov Psychosis Korsakov'S Psychosis Alcohol Induced Encephalopathy Korsakoff Disease Korsakoff Psychosis
Wernicke Encephalopathy	Wernicke'S Encephalopathy Wernicke'S Disease Encephalopathy, Wernicke'S Wernicke-Korsakoff Syndrome Encephalopathy Due To Vitamin B1 Deficiency Wernicke Disease Wernicke Syndrome
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Mitochondrial Complex I Deficiency, Nuclear Type 16	MC1DN16 Nuclear Type Mitochondrial Complex I Deficiency 16 Mitochondrial Complex 1 Deficiency, Nuclear Type 16
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Molybdenum Cofactor Deficiency, Complementation Group B	MOCODB Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B Molybdenum Cofactor Deficiency B Molybdenum Cofactor Deficiency Type B Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B Mocod Type B Molybdenum Cofactor Deficiency Complementation Group B Deficiency, Molybdenum Cofactor, Complementation Group B
Biotin Deficiency	Biotin Deficiency Disease B7 Deficiency Biotan Vitamin Deficiency
Mitochondrial Dna Depletion Syndrome 5	Succinate-Coa Ligase Deficiency Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria MTDPS5 Booth-Haworth-Dilling Syndrome Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Mitochondrial Dna Depletion Syndrome-5 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Encephalomyopathy Aminoacidopathy Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria Succinate-Coenzyme A Ligase Deficiency Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Dna Depletion Syndrome, Type 5
Ehrlich Tumor Carcinoma	Carcinoma, Ehrlich Tumor Ehrlich Tumour Carcinoma Ehrlich'S Tumor Ehrlich'S Tumour
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Brown-Vialetto-Van Laere Syndrome
Chorea Gravidarum
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Mitochondrial Complex I Deficiency, Nuclear Type 20	Acyl-Coa Dehydrogenase 9 Deficiency Acad9 Deficiency MC1DN20 Mitochondrial Complex I Deficiency Due To Acad9 Deficiency Nuclear Type Mitochondrial Complex I Deficiency 20 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency Deficiency Of Acyl-Coa Dehydrogenase Family Member 9 Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
Glutaric Acidemia I	Glutaryl-Coa Dehydrogenase Deficiency GA1 Glutaric Acidemia Type 1 Glutaric Aciduria 1 Glutaric Aciduria Type 1 Glutaric Acidemia Type I Glutaric Aciduria, Type 1 Glutaric Aciduria I Ga I Glutaricaciduria, Type I Glutaryl-Coenzyme A Dehydrogenase Deficiency Glutaric Academia Type 1 Glutaric Aciduria Type I Ga-1 Gcdh Deficiency Ga 1 Glutaric Acidemia 1 Gcdhd Glutaric Aciduria, Type I Glutaricaciduria I Ga-I Glutaricaciduria, Type 1
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
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
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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-RS13049	SLC19A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC19A3	VGNC	VGNC:99403
Mus musculus	SLC19A3	MGD	MGI:1931307
Bos taurus	SLC19A3	VGNC	VGNC:56147
Felis catus	SLC19A3	VGNC	VGNC:82542
Rattus norvegicus	SLC19A3	RGD	RGD:1311413
Others	SLC19A3	NCBI