SLC19A2 solute carrier family 19 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC19A2provided by HGNC
Official Full Name: solute carrier family 19 member 2provided by HGNC
Primary source: HGNC:HGNC:10938
See related: Ensembl:ENSG00000117479 MIM:603941; AllianceGenome:HGNC:10938
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TC1; THT1; TRMA; THMD1; THTR1
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]
Expression: Ubiquitous expression in gall bladder (RPKM 20.8), fat (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169463909..169485970, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (168819254..168841316, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169433147..169455208, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Title: Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
Title: The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.
Title: pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.
3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Title: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells.
Title: Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells.
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Title: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
Title: A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Study demonstrate that SLC19A2 deficit causes impaired insulin secretion in conjunction with mitochondrial dysfunction, loss of protection against oxidative stress, and cell cycle arrest. These findings link SLC19A2 mutations to autosomal dominant diabetes and suggest a role of SLC19A2 in beta-cell function and survival.
Title: Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.
SLC19A2 mutation is associated with permanent neonatal diabetes mellitus.
Title: Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.(
Title: A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness MedGen: C0342287 OMIM: 249270 GeneReviews: Thiamine-Responsive Megaloblastic Anemia Syndrome	Compare labs

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of venous thrombosis: insights from a new genome wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-75880 (e-PCR)
- UniSTS:10862

SLC19A2_1484 (e-PCR)
- UniSTS:277726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables folic acid transmembrane transporter activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thiamine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables thiamine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables thiamine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables thiamine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in folic acid transport	IEA Inferred from Electronic Annotation more info
involved_in pyridoxine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in thiamine diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in thiamine transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in thiamine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in thiamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in thiamine transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thiamine transport	NAS Non-traceable Author Statement more info	PubMed
involved_in thiamine-containing compound metabolic process	TAS Traceable Author Statement more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thiamine transporter 1

Names: high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; thTr-1; thiamine-responsive megaloblastic anaemia

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008255.1 RefSeqGene

Range

5027..27062

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001319667.1 → NP_001306596.1 thiamine transporter 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF135488, BU608154, DB150382

Consensus CDS

CCDS81398.1

UniProtKB/TrEMBL

A0A024R8Y5

Related

ENSP00000356778.3, ENST00000367804.4

Conserved Domains (1) summary

cl27502
Location:74 → 257

Folate_carrier; Reduced folate carrier
NM_006996.3 → NP_008927.1 thiamine transporter 1 isoform 1

See identical proteins and their annotated locations for NP_008927.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF153330, AJ237724, BU608154

Consensus CDS

CCDS1280.1

UniProtKB/Swiss-Prot

B2R9H0, B4E1X4, O60779, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43

UniProtKB/TrEMBL

A0A024R928, A0A0S2Z5K7, A0A2R8Y5B5

Related

ENSP00000236137.5, ENST00000236137.10

Conserved Domains (1) summary

pfam01770
Location:28 → 458

Folate_carrier; Reduced folate carrier