Primary Identifier | MGI:103580 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 15111 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and protein homodimerization activity. Contributes to E-box binding activity. Involved in several processes, including heart morphogenesis; negative regulation of cardiac muscle cell apoptotic process; and positive regulation of semaphorin-plexin signaling pathway. Acts upstream of with a positive effect on norepinephrine biosynthetic process. Acts upstream of or within several processes, including heart development; nervous system development; and regulation of DNA-templated transcription. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; heart; and sympathetic nervous system. Orthologous to human HAND2 (heart and neural crest derivatives expressed 2). PHENOTYPE: Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally. [provided by MGI curators] |