Gene: CHD4

Alternate names for this Gene: CHD-4|Mi-2b|Mi2-BETA|SIHIWES

Gene Summary: The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: chromodomain helicase DNA binding protein 4

Type of Gene: protein-coding

rs1377989582 in CHD4 gene and Dysmorphic features PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 27616479 2016 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

PMID 22302795 2012 The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination.

PMID 27418512 2016 Chromatin remodeling inactivates activity genes and regulates neural coding.

PMID 20693977 2010 Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4.

PMID 26116663 2015 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification.

PMID 24348274 2013 The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs1377989582 in CHD4 gene and Multiple congenital anomalies PMID 20693977 2010 Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4.

PMID 22302795 2012 The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination.

PMID 27418512 2016 Chromatin remodeling inactivates activity genes and regulates neural coding.

PMID 24348274 2013 The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 27616479 2016 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

PMID 26116663 2015 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification.

rs7308584 in CHD4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1639122 in CHD4 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7308584 in CHD4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.