TBX3 (Entrez ID: 6926)

Entrez Gene ID	6926
Official Gene Symbol	TBX3 (GeneCards)
Full name	T-box 3
Location	12q24.21
Other ids	Vega : OTTHUMG00000169586 MIM : 601621 HGNC : HGNC:11602 Ensembl : ENSG00000135111
Other names	UMS, XHL, TBX3-ISO
Summary	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

Variants

Found 16 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
16199	6926	TBX3	12	115108369	115108369	Asymptomatic	HiSeq X Ten
16298	6926	TBX3	12	115403602	115403602	Asymptomatic	HiSeq X Ten
16381	6926	TBX3	12	115886247	115886247	Asymptomatic	HiSeq X Ten
16512	6926	TBX3	12	115541700	115541700	Asymptomatic	HiSeq X Ten
16522	6926	TBX3	12	115730725	115730725	Asymptomatic	HiSeq X Ten
16654	6926	TBX3	12	116378624	116378624	Asymptomatic	HiSeq X Ten
16807	6926	TBX3	12	115222916	115222916	Asymptomatic	HiSeq X Ten
16850	6926	TBX3	12	115447609	115447609	Asymptomatic	HiSeq X Ten
16851	6926	TBX3	12	116093709	116093709	Asymptomatic	HiSeq X Ten
16863	6926	TBX3	12	115157760	115157760	Asymptomatic	HiSeq X Ten
16950	6926	TBX3	12	116159709	116159709	Cockayne syndrome	HiSeq X Ten
17026	6926	TBX3	12	115353605	115353605	Xeroderma Pigmentosum	HiSeq X Ten
23679	6926	TBX3	12	115675759	115675759	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27496	6926	TBX3	12	115855036	115855036	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27539	6926	TBX3	12	115376316	115376316	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
27560	6926	TBX3	12	115775959	115775959	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning