Human Gene HAND2 (ENST00000359562.4) from GENCODE V44
Description: Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA. (from RefSeq NM_021973) RefSeq Summary (NM_021973): 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]. Gencode Transcript: ENST00000359562.4 Gencode Gene: ENSG00000164107.9 Transcript (Including UTRs) Position: hg38 chr4:173,526,091-173,530,229 Size: 4,139 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr4:173,527,277-173,529,289 Size: 2,013 Coding Exon Count: 2
ID:HAND2_HUMAN DESCRIPTION: RecName: Full=Heart- and neural crest derivatives-expressed protein 2; AltName: Full=Class A basic helix-loop-helix protein 26; Short=bHLHa26; AltName: Full=Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2; Short=dHAND; FUNCTION: Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND1 and HEY1, HEY2 and HEYL (hairy-related transcription factors) (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Heart. DEVELOPMENTAL STAGE: Expressed in the fetal heart. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P61296
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding 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:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007507 heart development GO:0007512 adult heart development GO:0010463 mesenchymal cell proliferation GO:0010613 positive regulation of cardiac muscle hypertrophy GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0010667 negative regulation of cardiac muscle cell apoptotic process GO:0014032 neural crest cell development GO:0030154 cell differentiation GO:0034103 regulation of tissue remodeling 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:0070374 positive regulation of ERK1 and ERK2 cascade GO:1900745 positive regulation of p38MAPK cascade GO:1903929 primary palate development 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
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