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Gene: TBX5 (T-box transcription factor 5) Homo sapiens
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Symbol: TBX5
Name: T-box transcription factor 5
CRRD ID: 1313887
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription factor binding activity. Involved in several processes, including embryonic forelimb morphogenesis; negative regulation of cardiac muscle cell proliferation; and positive regulation of cardioblast differentiation. Localizes to cytoplasm; nucleus; and protein-DNA complex. Implicated in Holt-Oram syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HOS; T-box 5; T-box protein 5; T-box transcription factor TBX5
Orthologs:
Mus musculus (house mouse) : Tbx5 (T-box 5)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tbx5 (T-box transcription factor 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tbx5 (T-box transcription factor 5)
Pan paniscus (bonobo/pygmy chimpanzee) : TBX5 (T-box transcription factor 5)
Canis lupus familiaris (dog) : TBX5 (T-box transcription factor 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tbx5 (T-box transcription factor 5)
Sus scrofa (pig) : TBX5 (T-box transcription factor 5)
Chlorocebus sabaeus (African green monkey) : TBX5 (T-box transcription factor 5)
Heterocephalus glaber (naked mole-rat) : Tbx5 (T-box transcription factor 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12114,353,931 - 114,408,442 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl12114,353,911 - 114,408,442 (-)EnsemblGRCh38hg38GRCh38
GRCh3812114,353,911 - 114,408,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712114,791,735 - 114,846,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612113,276,118 - 113,330,630 (-)NCBINCBI36hg18NCBI36
Celera12114,419,103 - 114,473,633 (-)NCBI
Cytogenetic Map12q24.21NCBI
HuRef12111,801,135 - 111,855,628 (-)NCBIHuRef
CHM1_112114,759,933 - 114,814,388 (-)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 TBX5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1313887
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-11-10
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.