HAND2
Gene Information
- Official Symbol: HAND2
- Official Name: heart and neural crest derivatives expressed 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 9464
- UniProt: P61296
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: 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). {ECO:0000250}.
Pfam Domains GO Terms
Pfam Domains
| HLH |
GO Terms
| positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process |
| positive regulation of semaphorin-plexin signaling pathway |
| positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis |
| primary palate development |
| cell proliferation involved in outflow tract morphogenesis |
| visceral serous pericardium development |
| cell proliferation involved in heart morphogenesis |
| regulation of semaphorin-plexin signaling pathway |
| apoptotic process involved in heart morphogenesis |
| cardiac neural crest cell migration involved in outflow tract morphogenesis |
| cardiac right ventricle formation |
| cardiac neural crest cell development involved in outflow tract morphogenesis |
| noradrenergic neuron differentiation |
| norepinephrine biosynthetic process |
| cardiac neural crest cell differentiation involved in heart development |
| cardiac neural crest cell development involved in heart development |
| AT DNA binding |
| coronary artery morphogenesis |
| regulation of secondary heart field cardioblast proliferation |
| regulation of cardioblast proliferation |
| cardiac ventricle formation |
| cardiac chamber formation |
| peripheral nervous system neuron differentiation |
| peripheral nervous system neuron development |
| suckling behavior |
| norepinephrine metabolic process |
| cell migration involved in heart development |
| adult heart development |
| coronary vasculature morphogenesis |
| apoptotic process involved in morphogenesis |
| mesenchymal cell proliferation |
| regulation of cell proliferation involved in heart morphogenesis |
| catechol-containing compound biosynthetic process |
| catecholamine biosynthetic process |
| cardiac right ventricle morphogenesis |
| pericardium development |
| tongue development |
| sympathetic nervous system development |
| negative regulation of cardiac muscle cell apoptotic process |
| negative regulation of striated muscle cell apoptotic process |
| positive regulation of transcription regulatory region DNA binding |
| positive regulation of p38MAPK cascade |
| apoptotic process involved in development |
| cartilage morphogenesis |
| positive regulation of cardiac muscle hypertrophy |
| positive regulation of muscle hypertrophy |
| activating transcription factor binding |
| phenol-containing compound biosynthetic process |
| regulation of animal organ formation |
| negative regulation of muscle cell apoptotic process |
| regulation of cardiac muscle cell apoptotic process |
| regulation of striated muscle cell apoptotic process |
| regulation of heart morphogenesis |
| regulation of p38MAPK cascade |
| negative regulation of osteoblast differentiation |
| catecholamine metabolic process |
| catechol-containing compound metabolic process |
| thymus development |
| autonomic nervous system development |
| coronary vasculature development |
| E-box binding |
| regulation of transcription regulatory region DNA binding |
| neural crest cell migration |
| negative regulation of DNA binding |
| regulation of cardiac muscle hypertrophy |
| positive regulation of DNA binding |
| regulation of muscle hypertrophy |
| heart looping |
| artery morphogenesis |
| embryonic digit morphogenesis |
| embryonic heart tube morphogenesis |
| determination of heart left/right asymmetry |
| multi-organism behavior |
| regulation of muscle cell apoptotic process |
| peripheral nervous system development |
| cardiac ventricle morphogenesis |
| negative regulation of ossification |
| outflow tract morphogenesis |
| regulation of tissue remodeling |
| embryonic heart tube development |
| neural crest cell development |
| positive regulation of animal organ morphogenesis |
| odontogenesis of dentin-containing tooth |
| phenol-containing compound metabolic process |
| stem cell development |
| mesenchymal cell development |
| feeding behavior |
| regulation of muscle adaptation |
| artery development |
| neural crest cell differentiation |
| roof of mouth development |
| regulation of osteoblast differentiation |
| cardiocyte differentiation |
| determination of left/right symmetry |
| odontogenesis |
| determination of bilateral symmetry |
| specification of symmetry |
| embryonic limb morphogenesis |
| regulation of DNA binding |
| embryonic appendage morphogenesis |
| cardiac chamber morphogenesis |
| cardiac ventricle development |
| appendage morphogenesis |
| limb morphogenesis |
| mesenchymal cell differentiation |
| stem cell differentiation |
| negative regulation of DNA-binding transcription factor activity |
| positive regulation of stress-activated MAPK cascade |
| positive regulation of stress-activated protein kinase signaling cascade |
| negative regulation of binding |
| cardiac chamber development |
| cartilage development |
| ameboidal-type cell migration |
| positive regulation of binding |
| appendage development |
| limb development |
| organic hydroxy compound biosynthetic process |
| regulation of ossification |
| transcription factor complex |
| positive regulation of ERK1 and ERK2 cascade |
| transcription regulatory region DNA binding |
| mesenchyme development |
| connective tissue development |
| regulation of stress-activated MAPK cascade |
| regulation of muscle system process |
| regulation of stress-activated protein kinase signaling cascade |
| nuclear chromatin |
| heart morphogenesis |
| regulation of animal organ morphogenesis |
| embryonic organ morphogenesis |
| regulation of ERK1 and ERK2 cascade |
| epithelial tube morphogenesis |
| RNA polymerase II regulatory region sequence-specific DNA binding |
| angiogenesis |
| transcription factor binding |
| regulation of binding |
| in utero embryonic development |
| blood vessel morphogenesis |
| gland development |
| regulation of DNA-binding transcription factor activity |
| morphogenesis of an epithelium |
| embryonic organ development |
| pattern specification process |
| DNA-binding transcription activator activity, RNA polymerase II-specific |
| organic hydroxy compound metabolic process |
| blood vessel development |
| protein heterodimerization activity |
| skeletal system development |
| vasculature development |
| cardiovascular system development |
| heart development |
| positive regulation of MAPK cascade |
| sensory organ development |
| cell population proliferation |
| tissue morphogenesis |
| embryonic morphogenesis |
| behavior |
| regulation of system process |
| protein-containing complex |
| hematopoietic or lymphoid organ development |
| chordate embryonic development |
| immune system development |
| embryo development ending in birth or egg hatching |
| tube morphogenesis |
| negative regulation of cell differentiation |
| regulation of cellular response to stress |
| regulation of MAPK cascade |
| neuron development |
| tube development |
| circulatory system development |
| protein homodimerization activity |
| negative regulation of apoptotic process |
| anatomical structure formation involved in morphogenesis |
| negative regulation of programmed cell death |
| apoptotic process |
| negative regulation of developmental process |
| animal organ morphogenesis |
| cell migration |
| embryo development |
| negative regulation of cell death |
| neuron differentiation |
| positive regulation of protein phosphorylation |
| positive regulation of intracellular signal transduction |
| programmed cell death |
| positive regulation of phosphorylation |
| regulation of anatomical structure morphogenesis |
| localization of cell |
| cell motility |
| cell death |
| epithelium development |
| positive regulation of phosphorus metabolic process |
| positive regulation of phosphate metabolic process |
| negative regulation of molecular function |
| aromatic compound biosynthetic process |
| negative regulation of multicellular organismal process |
| positive regulation of transcription by RNA polymerase II |
| positive regulation of protein modification process |
| organic cyclic compound biosynthetic process |
| locomotion |
| positive regulation of developmental process |
| organonitrogen compound biosynthetic process |
| regulation of protein phosphorylation |
| regulation of response to stress |
| generation of neurons |
| positive regulation of transcription, DNA-templated |
| regulation of apoptotic process |
| movement of cell or subcellular component |
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| regulation of programmed cell death |
| regulation of phosphorylation |
| positive regulation of cellular protein metabolic process |
| regulation of cell population proliferation |
| neurogenesis |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cell development |
| positive regulation of signal transduction |
| regulation of cell death |
| positive regulation of protein metabolic process |
| negative regulation of gene expression |
| positive regulation of RNA metabolic process |
| positive regulation of multicellular organismal process |
| tissue development |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| regulation of intracellular signal transduction |
| regulation of protein modification process |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| PT-1 25μM R07 exp392 | -2.18 |
| UMK57 0.6μM R03 exp107 | -1.8 |
| Disulfiram 4.3μM R06 exp281 | 1.78 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 17080
- Expression level (log2 read counts): -2.51
Expression Distribution
HAND2 Expression in NALM6 Cells: -2.51
