HAND2 Gene Summary [Human]
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | HAND2 |
| Official Name | heart and neural crest derivatives expressed 2 [Source:HGNC Symbol;Acc:HGNC:4808] |
| Ensembl ID | ENSG00000164107 |
| Bio databases IDs | |
| Aliases | heart and neural crest derivatives expressed 2 |
| Synonyms | bHLHa26, dHAND, DHAND2, Ehand2, heart and neural crest derivatives expressed 2, Hed, LOC103693947, Th2, Thing2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HAND2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription activation domain
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- AT DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the HAND2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neuroblastoma
- neuroblastoma formation
- Cornelia de Lange syndrome
- atrial fibrillation
- left ventricular dilation
- hypoplasia
- growth failure
- pericardial effusion
- myocardial fibrosis
- congestive heart failure
role in cell
- apoptosis
- proliferation
- expression in
- quantity
- size
- differentiation
- development
- survival
- transactivation in
- reprogramming
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAND2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- coronary artery morphogenesis
- visceral serous pericardium development
- outflow tract morphogenesis
- odontogenesis of dentin-containing tooth
- tongue development
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- peripheral nervous system neuron development
- apoptotic process involved in heart morphogenesis
- adult heart development
- negative regulation of osteoblast differentiation
- thymus development
- embryonic digit morphogenesis
- sympathetic nervous system development
- heart development
- positive regulation of transcription regulatory region DNA binding
- in utero embryonic development
- angiogenesis
- suckling behavior
- osteoblast differentiation
- heart looping
- positive regulation of cardiac muscle hypertrophy
- regulation of tissue remodeling
- positive regulation of semaphorin-plexin signaling pathway
- cartilage morphogenesis
- cardiac neural crest cell development involved in outflow tract morphogenesis
- norepinephrine biosynthetic process
- embryonic skeletal system development
- cell proliferation involved in outflow tract morphogenesis
- regulation of secondary heart field cardioblast proliferation
- positive regulation of p38MAPK cascade
- regulation of transcription from RNA polymerase II promoter
- noradrenergic neuron differentiation
- negative regulation of gene expression
- cardiac right ventricle formation
- cellular response to retinoic acid
- positive regulation of gene expression
- positive regulation of ERK1 and ERK2 cascade
- negative regulation of cardiac muscle cell apoptotic process
- mesenchymal cell proliferation
- cellular response to organic cyclic compound
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- macromolecular complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- AT DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- transcription coactivator binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding