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Protein Coding Gene : Hand2 heart and neural crest derivatives expressed 2

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]
  • synonyms:
  • HLH transcription factor expressed in embryo and deciduum,
  • extraembryonic tissues, heart and neural crest derivatives expressed transcript 2,
  • AI225906,
  • Hand2,
  • MGD-MRK-24465,
  • bHLHa26,
  • MGI:104305,
  • heart and neural crest derivatives expressed 2,
  • dHAND,
  • expressed sequence AI225906,
  • Thing2,
  • Ehand2,
  • MGI:2142483,
  • MGI:2142607,
  • expressed sequence AI661148,
  • AI661148,
  • MGD-MRK-25633,
  • Hed

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

11 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

1 Driver For