SLC19A3 - solute carrier family 19 member 3 Gene

Homo sapiens

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

Gene ID: 80704 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13049	SLC19A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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