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

Gene ID: 10560, updated on 3-May-2020

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
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

Genomic context

See SLC19A2 in Genome Data Viewer
Location:
1q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169463909..169485970, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169433147..169455208, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371605 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene coagulation factor V Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene selectin P

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
folic acid transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
thiamine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
thiamine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
folic acid transport IEA
Inferred from Electronic Annotation
more info
 
thiamine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
thiamine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine transport NAS
Non-traceable Author Statement
more info
PubMed 
thiamine-containing compound metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_008255.1 RefSeqGene

    Range
    5027..27062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319667.1NP_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/Swiss-Prot
    O60779
    UniProtKB/TrEMBL
    A0A024R8Y5
    Related
    ENSP00000356778.3, ENST00000367804.4
    Conserved Domains (1) summary
    cl27502
    Location:74257
    Folate_carrier; Reduced folate carrier
  2. NM_006996.3NP_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
    O60779
    UniProtKB/TrEMBL
    A0A024R928
    Related
    ENSP00000236137.5, ENST00000236137.10
    Conserved Domains (1) summary
    pfam01770
    Location:28458
    Folate_carrier; Reduced folate carrier

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    169463909..169485970 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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