• Gene id: 6899

Gene Summary

• Gene Symbol: TBX1   Gene   UCSC   Ensembl
• Aliases: CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
• Gene name: T-box transcription factor 1
• Alternate names: T-box transcription factor TBX1, T-box 1 transcription factor C, Testis-specific T-box protein, brachyury,
• Gene location: 22q11.21 (19756702: 19783592)     Exons: 13     NC_000017.11
• Gene summary(Entrez): 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 gene product shares 98% amino aci
• OMIM: 602054

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Congenital heart defects	GAD: 15060116
22q11.2 deletion syndrome	KEGG: H01525
Tetralogy of Fallot	KEGG: H00549
Cleft defects	GAD: 20634891
Other well-defined immunodeficiency syndromes	KEGG: H00107
Schizophrenia	GAD: 17850965
DiGeorge syndrome	KEGG: H01524
Testis- specific transcription factor spermiogenesis	MIK: 28884822
Velocardiofacial syndrome	GAD: H01004
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Testis specific transcription factor	MIK: 28884822

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28884822	Testis specific transcription factor				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq