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Gene: TBX1 (T-box transcription factor 1) Homo sapiens
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
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
Human AssemblyChrPosition (strand)SourceGenome Browsers
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)

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


Comparative Map Data
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TBX1
Alliance 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


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