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FLASH GENE

Symbol

HDAC2

contributors: mct/shn - updated : 06-11-2017

HGNC name	histone deacetylase 2
HGNC id	4853

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colon, gastric and endometrial tumor constitutional       gain of function specifically up-regulated in dystrophic muscles constitutional     --low   in end-stage dilated cardiomyopathy constitutional         altered expression and/or subcellular localization in Cushing Disease constitutional         down-regulated in airway epithelial cells lacking CFTR in the cystic fibrosis tumoral     --over   in diffuse large B cell lymphoma tumoral         highly expressed in renal cancer cell tumoral       loss of function inactivating mutation leads to dysregulation of apoptosis in microsatellite instability tumors tumoral     --over   highly expressed in undifferentiated, aggressive teratocarcinomas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	biomarker for malignant teratomas
Therapy target
	System Type Disorder Pubmed neuromuscular spinal muscular atrophy   with HDAC6 may be the most compelling targets for SMA therapy (HDAC2 deficiency resulted in increased synapse number as well as improved memory formation) tumor     inhibitors of histone deacetylase in tumors with HDAC2 mutations neuromuscular myopathy   pharmacological modulation of HDAC2 could also be exploited to modulate the effect of glucocorticoids in the current treatment of DMD blood hemoglobin   potential of isoform-selective inhibitors of HDAC1 and HDAC2 for the treatment of sickle cell disease respiratory lung chr.Bronchopathy obstructive potential target for devising better therapies for patients who are refractory/insensitive to steroid treatments, such as patients with COPD, asthma immunology autoimmune articular potential target for devising better therapies for patients who are refractory/insensitive to steroid treatments, such as patients with rheumatoid arthritis immunology autoimmune digestive potential target for devising better therapies for patients who are refractory/insensitive to steroid treatments, such as patients with inflammatory bowel disease cardiovascular atheroma   overexpression or activation of HDAC2 represents a novel therapy for endothelial dysfunction and atherosclerosis cancer muscle   In synovial sarcoma, HDAC2 inactivation demonstrates significant therapeutic effect by degradation of the SS18-SSX driver oncoprotein

ANIMAL & CELL MODELS

	mice lacking HDAC2 survive until the perinatal period, when they succumb to a spectrum of cardiac defects with obliteration of the lumen of the right ventricle, excessive hyperplasia and apoptosis of cardiomyocytes, and bradycardia
	Cardiac-specific deletion of HDAC1 and HDAC2 genes results in neonatal lethality with cardiac arrhythmias, dilated cardiomyopathy, and up-regulation of genes encoding skeletal muscle-specific contractile proteins and calcium channels
	deletion of both HDAC1 and HDAC2 genes in mouse developing neurons results in severe hippocampal abnormalities, absence of cerebellar foliation, disorganization of cortical neurons, and lethality by postnatal day 7
	loss of HDAC2 in NFe2l2 deficient mice is a crucial component of increased susceptibility to oxidative stress-induced inflammatory response in the lungs
	ablation of Hdac1 and Hdac2 specifically in mouse Schwann cells, result in massive Schwann cell loss and virtual absence of myelin in mutant sciatic nerves (