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Gene: TBX1 (T-box transcription factor 1) Homo sapiens
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Symbol: TBX1
Name: T-box transcription factor 1
Description: Exhibits protein homodimerization activity and sequence-specific DNA binding activity. Involved in several processes, including animal organ development; pharyngeal system development; and soft palate development. Localizes to the nucleus. Implicated in DiGeorge syndrome; tetralogy of Fallot; and velocardiofacial syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brachyury; CAFS; CATCH22; cono-truncal heart malformation; CTHM; DGCR; DGS; DORV; T-box 1; T-box 1 transcription factor C; T-box protein 1; T-box transcription factor TBX1; t-box transcription factor TBX1 1; t-box transcription factor TBX1 2; TBX1C; Testis-specific T-box protein; TGA; VCF; VCFS; velocardiofacial syndrome
Orthologs:
Mus musculus (house mouse) : Tbx1 (T-box 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tbx1 (T-box transcription factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tbx1 (T-box transcription factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : TBX1 (T-box transcription factor 1)
Canis lupus familiaris (dog) : TBX1 (T-box transcription factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tbx1 (T-box transcription factor 1)
Sus scrofa (pig) : TBX1 (T-box transcription factor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,756,703 - 19,783,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372219,744,226 - 19,771,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,124,226 - 18,151,116 (+)NCBINCBI36hg18NCBI36
Build 342218,118,779 - 18,129,409NCBI
Celera223,596,280 - 3,623,183 (+)NCBI
Cytogenetic Map22q11.21NCBI
HuRef223,364,192 - 3,390,621 (+)NCBIHuRef
CHM1_12219,744,073 - 19,770,823 (+)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
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TBX1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317100
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
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.