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Gene: SLC19A3 (solute carrier family 19 member 3) Homo sapiens
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Symbol: SLC19A3
Name: solute carrier family 19 member 3
Description: Predicted to have thiamine transmembrane transporter activity. Predicted to be involved in thiamine transmembrane transport. Predicted to localize to the plasma membrane. Implicated in biotin-responsive basal ganglia disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBGD; solute carrier family 19 (thiamine transporter), member 3; solute carrier family 19, member 3; thiamine transporter 2; THMD2; thTr-2; THTR2
Orthologs:
Mus musculus (house mouse) : Slc19a3 (solute carrier family 19, member 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc19a3 (solute carrier family 19 member 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc19a3 (solute carrier family 19 member 3)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC19A3 (solute carrier family 19 member 3)
Canis lupus familiaris (dog) : LOC486151 (thiamine transporter 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc19a3 (solute carrier family 19 member 3)
Sus scrofa (pig) : SLC19A3 (solute carrier family 19 member 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2227,683,763 - 227,718,028 (-)Ensembl
GRCh382227,683,763 - 227,718,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372228,549,926 - 228,582,814 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,258,170 - 228,290,989 (-)NCBINCBI36hg18NCBI36
Build 342228,375,430 - 228,408,231NCBI
Celera2222,319,407 - 222,352,201 (-)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2220,392,670 - 220,425,503 (-)NCBIHuRef
CHM1_12228,556,170 - 228,588,989 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC19A3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1322863
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.