Version 5.4
Homo sapiens Gene: HAND2
Summary
InnateDB Gene IDBG-44790.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HAND2
Gene Name heart and neural crest derivatives expressed 2
Synonyms bHLHa26; dHand; DHAND2; Hed; Thing2
Species Homo sapiens
Ensembl Gene ENSG00000164107
Encoded Proteins
IDBP-44792
heart and neural crest derivatives expressed 2
IDBP-480847
heart and neural crest derivatives expressed 2
IDBP-809043
heart and neural crest derivatives expressed 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:173524969-173530229
Strand Reverse strand
Band q34.1
Transcripts
ENST00000359562 ENSP00000352565
ENST00000503024 ENSP00000427084
ENST00000505300
ENST00000621866 ENSP00000477638
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003680 AT DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0033613 activating transcription factor binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0001525 angiogenesis
GO:0001701 in utero embryonic development
GO:0001947 heart looping
GO:0001967 suckling behavior
GO:0003007 heart morphogenesis
GO:0003219 cardiac right ventricle formation
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0003266 regulation of secondary heart field cardioblast proliferation
GO:0003278 apoptotic process involved in heart morphogenesis
GO:0003357 noradrenergic neuron differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0007507 heart development
GO:0007512 adult heart development
GO:0010463 mesenchymal cell proliferation
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0014032 neural crest cell development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043586 tongue development
GO:0045668 negative regulation of osteoblast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048485 sympathetic nervous system development
GO:0048538 thymus development
GO:0048935 peripheral nervous system neuron development
GO:0060021 palate development
GO:0060485 mesenchyme development
GO:0060536 cartilage morphogenesis
GO:0060982 coronary artery morphogenesis
GO:0061032 visceral serous pericardium development
GO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis
GO:0061325 cell proliferation involved in outflow tract morphogenesis
GO:0061371 determination of heart left/right asymmetry
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:2000763 positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process
GO:2000764 positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038193
View Gene Order
ENSBTAG00000044123
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.388245
RefSeq NM_021973
HUGO
OMIM
CCDS CCDS3819
HPRD 03872
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca