SLC19A2 - solute carrier family 19 member 2 Gene

Also Known as TC1; THT1; TRMA; THMD1; THTR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10560

About SLC19A2

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:169,463,909-169,485,970 (from NCBI)

This gene has 4 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 20.8), fat (RPKM 13.6) and 25 other tissues.

Summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

SLC19A2 Products (2)

mRNA	Protein	Name
NM_001319667.1	NP_001306596.1	thiamine transporter 1 isoform 2
NM_006996.3	NP_008927.1	thiamine transporter 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21836059	GOA
enables thiamine transmembrane transporter activity	IDA IDA: Inferred from direct assay	21836059	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in pyridoxine transport	IDA IDA: Inferred from direct assay	33008889	GOA
involved in thiamine transport	IDA IDA: Inferred from direct assay	10542220	GOA
involved in thiamine transport	IMP IMP: Inferred from mutant phenotype	10391222	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	21836059	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

SLC19A2 Protein Structure

Folate_carrier

0
100
200
300
400
497 a.a.

Protein Preferred Names	Protein Names
thiamine transporter 1	high affinity thiamine transporter

SLC19A2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P87261	SLC19A2 Antibody	WB, IHC-P, IHC-F, ICC/IF, ELISA, IF-Tissue, mIHC	Human

Related Diseases

Diseases	Alias
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
Ear Malformation	Cup Ear
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
Diabetes Mellitus	Diabetes
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
Thiamine Deficiency Disease
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Dry Beriberi
Wet Beriberi
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
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
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
Folate Malabsorption, Hereditary	Hereditary Folate Malabsorption Congenital Defect Of Folate Absorption Congenital Folate Malabsorption Folic Acid Transport Defect HFM
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Macrocytic Anemia	Anemia Macrocytic Anemia, Macrocytic Macrocytic Anaemia
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13048	SLC19A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC19A2	VGNC	VGNC:34710
Mus musculus	SLC19A2	MGD	MGI:1928761
Macaca mulatta	SLC19A2	VGNC	VGNC:81571
Rattus norvegicus	SLC19A2	RGD	RGD:1308611
Canis familiaris	SLC19A2	VGNC	VGNC:46260
Felis catus	SLC19A2	VGNC	VGNC:65229
Others	SLC19A2	NCBI