Hdac2 - SNV Details



 Gene Information 
Gene Name Hdac2
Old Gene Names for Hdac2 Yy1bp , D10wsu179e
Gene Description histone deacetylase 2 [Source:MGI Symbol;Acc:MGI:1097691]
MGI phenotype Mice homozygous for a null allele exhibit embryonic and postnatal lethality accompanied with a transient decrease in body size and increase in heart size and cardiomyocyte proliferation that is overcome by 2 months of age in surviving mice.
Uniprot Name
CCDS Name
Gene GO
histone deacetylase complex; positive regulation of oligodendrocyte differentiation; RNA polymerase II distal enhancer sequence-specific DNA binding; sequence-specific DNA binding; NAD-dependent histone deacetylase activity (H4-K16 specific); enzyme binding; positive regulation of sequence-specific DNA binding transcription factor activity; histone deacetylase activity; RNA polymerase II repressing transcription factor binding; NAD-dependent histone deacetylase activity (H3-K14 specific); chromatin binding; odontogenesis of dentin-containing tooth; circadian regulation of gene expression; response to cocaine; eyelid development in camera-type eye; protein deacetylase activity; negative regulation of transcription
DNA-templated; histone H4 deacetylation; positive regulation of transcription from RNA polymerase II promoter; regulation of protein kinase B signaling; deacetylase activity; core promoter binding; hair follicle placode formation; negative regulation of cardiac muscle cell proliferation; cytoplasm; negative regulation of canonical Wnt signaling pathway; heat shock protein binding; regulation of sarcomere organization; maintenance of chromatin silencing; negative regulation of apoptotic process; embryonic digit morphogenesis; fungiform papilla formation; negative regulation of intrinsic apoptotic signaling pathway; poly(A) RNA binding; nucleosomal DNA binding; dendrite development; RNA polymerase II core promoter proximal region sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; histone deacetylation; transcription factor complex; negative regulation of sequence-specific DNA binding transcription factor activity; protein complex; cellular response to heat; protein binding; histone H3 deacetylation; transcriptional repressor complex; ESC/E(Z) complex; epidermal cell differentiation; nucleus; chromatin modification; regulation of protein deacetylation; NAD-dependent histone deacetylase activity (H3-K9 specific); cardiac muscle cell development; response to drug; chromatin; negative regulation of neuron projection development; replication fork; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; Sin3 complex; heterochromatin; Krueppel-associated box domain binding; chromatin DNA binding; NuRD complex; neuron differentiation; nuclear chromatin; transcription factor binding; ATP-dependent chromatin remodeling; protein deacetylation; positive regulation of cell proliferation; positive regulation of proteolysis; transcription
DNA-templated; positive regulation of receptor biosynthetic process; NAD-dependent histone deacetylase activity (H3-K18 specific)
Homolog in other species HDAC2
Omim http://omim.org/entry/605164
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019777
Chromosome 10
Coordinate 36,997,071     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 58
Allele Frequency
T:R0.59
A:V0.41
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL00331
Median Base Quality 37.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved