Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including outflow tract septum morphogenesis; positive regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; embryonic organ morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; ear; embryo mesenchyme; and heart. Used to study DiGeorge syndrome; autism spectrum disorder; chromosome 22q11.2 deletion syndrome, distal; otitis media; and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in several diseases, including DiGeorge syndrome; congenital heart disease (multiple); hypoparathyroidism; sensorineural hearing loss; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1).

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Gene Ontology Evidence Code Abbreviations:

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