TBX18 (Entrez ID: 9096)

Entrez Gene ID	9096
Official Gene Symbol	TBX18 (GeneCards)
Full name	T-box 18
Location	6q14.3
Other ids	Vega : OTTHUMG00000015129 MIM : 604613 HGNC : HGNC:11595 Ensembl : ENSG00000112837
Other names	CAKUT2
Summary	This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]

Variants

Found 11 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
8899	9096	TBX18	6	86088189	86088189	Asymptomatic	HiSeq X Ten
8967	9096	TBX18	6	85575651	85575651	Asymptomatic	HiSeq X Ten
9029	9096	TBX18	6	85724090	85724090	Asymptomatic	HiSeq X Ten HiSeq 2000
9258	9096	TBX18	6	85960290	85960290	Asymptomatic	HiSeq X Ten HiSeq 2000
9535	9096	TBX18	6	85654921	85654921	Asymptomatic	HiSeq X Ten HiSeq 2000
9591	9096	TBX18	6	85668434	85668434	Asymptomatic	HiSeq X Ten HiSeq 2000
9636	9096	TBX18	6	85456106	85456106	Asymptomatic	HiSeq X Ten HiSeq 2000
10058	9096	TBX18	6	85871506	85871506	Cockayne syndrome	HiSeq X Ten HiSeq 2000
26099	9096	TBX18	6	85571930	85571930	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
26182	9096	TBX18	6	85956962	85956962	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
26229	9096	TBX18	6	85682604	85682604	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning