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. Alterna... See more...

Aliases for CHD4 Gene

Aliases for CHD4 Gene

  • Chromodomain Helicase DNA Binding Protein 4 2 3 5
  • Chromodomain-Helicase-DNA-Binding Protein 4 3 4
  • Mi-2 Autoantigen 218 KDa Protein 3 4
  • ATP-Dependent Helicase CHD4 3 4
  • Mi2-BETA 2 3
  • CHD-4 3 4
  • Mi-2b 2 3
  • EC 3.6.4.12 4
  • Mi2-Beta 4
  • EC 3.6.1 50
  • SIHIWES 3
  • CHD4 5

External Ids for CHD4 Gene

Previous GeneCards Identifiers for CHD4 Gene

  • GC12M006534
  • GC12M006653
  • GC12M006558
  • GC12M006549
  • GC12M006679
  • GC12M006533

Summaries for CHD4 Gene

Entrez Gene Summary for CHD4 Gene

  • 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. [provided by RefSeq, Jul 2014]

GeneCards Summary for CHD4 Gene

CHD4 (Chromodomain Helicase DNA Binding Protein 4) is a Protein Coding gene. Diseases associated with CHD4 include Sifrim-Hitz-Weiss Syndrome and Chd4 Neurodevelopmental Disorder. Among its related pathways are Chromatin organization and Macrophage Differentiation and Growth Inhibition by METS. Gene Ontology (GO) annotations related to this gene include hydrolase activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ENSG00000285238.

UniProtKB/Swiss-Prot Summary for CHD4 Gene

  • Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.

Gene Wiki entry for CHD4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD4 Gene

Genomics for CHD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD4

Top Transcription factor binding sites by QIAGEN in the CHD4 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • Max

Genomic Locations for CHD4 Gene

Latest Assembly
chr12:6,570,082-6,614,524
(GRCh38/hg38)
Size:
44,443 bases
Orientation:
Minus strand

Previous Assembly
chr12:6,679,248-6,716,545
(GRCh37/hg19 by Entrez Gene)
Size:
37,298 bases
Orientation:
Minus strand

chr12:6,679,249-6,716,642
(GRCh37/hg19 by Ensembl)
Size:
37,394 bases
Orientation:
Minus strand

Genomic View for CHD4 Gene

Genes around CHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD4 Gene

Proteins for CHD4 Gene

  • Protein details for CHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14839-CHD4_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 4
    Protein Accession:
    Q14839
    Secondary Accessions:
    • Q8IXZ5

    Protein attributes for CHD4 Gene

    Size:
    1912 amino acids
    Molecular mass:
    218005 Da
    Quaternary structure:
    • Interacts with KLF1; the interaction depends on sumoylation of KLF1, and leads to its transcriptional repression (By similarity). Interacts directly with IKFZ1 in the NuRD complex. Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressor complex (PubMed:9804427, PubMed:10204490, PubMed:15454082). Part of a complex containing ATR and HDAC2 (PubMed:10545197). Interacts with TRIM27 (PubMed:14530259). Interacts with ZGPAT; the interaction is direct (PubMed:19644445). Interacts with BCL6 (PubMed:15454082). Interacts with BRD4 (PubMed:21555454). Interacts with PCNT (PubMed:17626165). Interacts with SETX (PubMed:23149945). Interacts with HDAC1 (PubMed:27616479).
    Miscellaneous:
    • One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.

    Three dimensional structures from OCA and Proteopedia for CHD4 Gene

    Alternative splice isoforms for CHD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD4 Gene

Selected DME Specific Peptides for CHD4 Gene

Q14839:
  • AGNKPANAVLHKVL
  • RWQDIQND
  • DEMGLGKT
  • DEAHRLK
  • TGTPLQN
  • VLLTSYELI
  • KMMLTHLVVRPG
  • ETFADGVPREGLSRQ
  • GHRVLIF
  • NQSKFFR
  • FLLSTRA
  • YKYERIDGGITG
  • NEYLSSFKVA
  • AGGLGINL
  • FLYSLYKEGH
  • RVLIFSQM
  • PEGKWSCPHCE
  • RAHRIGQ
  • DSDWNPH
  • GLGKTVQ
  • LSTRAGGLG

Post-translational modifications for CHD4 Gene

  • Ubiquitination at Lys504, Lys1057, Lys1092, Lys1837, Lys1852, Lys1855, and Lys1865
  • Modification sites at PhosphoSitePlus

Domains & Families for CHD4 Gene

Gene Families for CHD4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CHD4 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger-like, PHD finger
  • Chromo domain
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain
  • CHD, C-terminal 2
  • CHD, N-terminal

Suggested Antigen Peptide Sequences for CHD4 Gene

GenScript: Design optimal peptide antigens:
  • Mi2-beta (CHD4_HUMAN)
  • CHD4 protein (Q05CG6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14839

UniProtKB/Swiss-Prot:

CHD4_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD4: view

Function for CHD4 Gene

Molecular function for CHD4 Gene

UniProtKB/Swiss-Prot Function:
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
GENATLAS Biochemistry:
DNA binding protein with two chromatin organization (chromo) domains,and a helicase domain,4,component of the chromatin remodeling complex

Enzyme Numbers (IUBMB) for CHD4 Gene

Phenotypes From GWAS Catalog for CHD4 Gene

Gene Ontology (GO) - Molecular Function for CHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001103 RNA polymerase II repressing transcription factor binding IEA,IPI 22926524
GO:0003677 DNA binding TAS 9326634
GO:0003678 DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with CHD4: view
genes like me logo Genes that share phenotypes with CHD4: view

Human Phenotype Ontology for CHD4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHD4 Gene

MGI Knock Outs for CHD4:
  • Chd4 Chd4<tm1.2Kge>
  • Chd4 Chd4<tm1b(EUCOMM)Wtsi>
  • Chd4 Chd4<tm1.2Bh>

miRNA for CHD4 Gene

miRTarBase miRNAs that target CHD4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD4

No data available for Transcription Factor Targets and HOMER Transcription for CHD4 Gene

Localization for CHD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD4 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Associates with centrosomes in interphase. {ECO:0000250 UniProtKB:Q6PDQ2}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHD4 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin HDA 16217013
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA,IDA 17626165
GO:0005813 centrosome IDA 17626165
genes like me logo Genes that share ontologies with CHD4: view

Pathways & Interactions for CHD4 Gene

genes like me logo Genes that share pathways with CHD4: view

Pathways by source for CHD4 Gene

1 GeneGo (Thomson Reuters) pathway for CHD4 Gene
  • Transcription Sin3 and NuRD in transcription regulation
1 Qiagen pathway for CHD4 Gene
  • DNA Methylation and Transcriptional Repression
1 Cell Signaling Technology pathway for CHD4 Gene

SIGNOR curated interactions for CHD4 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 9326634
GO:0032508 DNA duplex unwinding IEA --
GO:0043044 ATP-dependent chromatin remodeling HDA 16217013
GO:1901796 regulation of signal transduction by p53 class mediator TAS --
genes like me logo Genes that share ontologies with CHD4: view

Drugs & Compounds for CHD4 Gene

(3) Drugs for CHD4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for CHD4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with CHD4: view

Transcripts for CHD4 Gene

mRNA/cDNA for CHD4 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
54 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD4

Alternative Splicing Database (ASD) splice patterns (SP) for CHD4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14a ·
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SP19: - - - - - - - - - - - - - - - - - - - - - -
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SP29: - -
SP30: - - -
SP31: -
SP32: -
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ExUns: 14b · 14c ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c · 26d ^ 27 ^ 28a ·
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SP7: -
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SP19: - - - - - - - - - - - - - - - - - - - - - - - - - -
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SP22: -
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ExUns: 28b ^ 29a · 29b · 29c ^ 30a · 30b · 30c ^ 31a · 31b ^ 32a · 32b · 32c ^ 33a · 33b · 33c · 33d ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38a · 38b · 38c ^
SP1:
SP2: -
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SP9: -
SP10: -
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SP19: - - - -
SP20:
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SP23: -
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SP33:

ExUns: 39a · 39b ^ 40 ^ 41 ^ 42a · 42b ^ 43 ^ 44a ·
SP1:
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SP25: -
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SP33:

Relevant External Links for CHD4 Gene

GeneLoc Exon Structure for
CHD4

Expression for CHD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHD4 Gene

Protein differential expression in normal tissues from HIPED for CHD4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.5) and Lymph node (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHD4 Gene



Protein tissue co-expression partners for CHD4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD4

SOURCE GeneReport for Unigene cluster for CHD4 Gene:

Hs.162233

Evidence on tissue expression from TISSUES for CHD4 Gene

  • Skin(4.7)
  • Liver(4.7)
  • Nervous system(4.5)
  • Lung(4)
  • Intestine(3.6)
  • Eye(3.6)
  • Heart(2.7)
  • Kidney(2.7)
  • Pancreas(2.5)
  • Bone marrow(2.5)
  • Spleen(2.4)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Muscle(2.4)
  • Stomach(2.3)
  • Blood(2.2)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with CHD4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD4 Gene

Orthologs for CHD4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHD4 30
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHD4 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CHD4 29 30
  • 94.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CHD4 29 30
  • 92.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chd4 29
  • 91.41 (n)
Mouse
(Mus musculus)
Mammalia Chd4 29 16 30
  • 91.27 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CHD4 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CHD4 29 30
  • 78.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHD4 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chd4 29
  • 75.12 (n)
Str.16957 29
African clawed frog
(Xenopus laevis)
Amphibia b230399n07-prov 29
Zebrafish
(Danio rerio)
Actinopterygii chd4b 30
  • 76 (a)
OneToMany
chd4a 29 30
  • 73.18 (n)
OneToMany
Dr.27188 29
Fruit Fly
(Drosophila melanogaster)
Insecta Chd3 30 31
  • 58 (a)
ManyToMany
Mi-2 30 31
  • 54 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea let-418 29 30
  • 59.33 (n)
ManyToMany
chd-3 30
  • 50 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHD1 30
  • 25 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PKR2 29
  • 53.18 (n)
Rice
(Oryza sativa)
Liliopsida Os.10905 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8509 30
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2842 29
Species where no ortholog for CHD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CHD4 Gene

ENSEMBL:
Gene Tree for CHD4 (if available)
TreeFam:
Gene Tree for CHD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHD4: view image
Alliance of Genome Resources:
Additional Orthologs for CHD4

Paralogs for CHD4 Gene

(13) SIMAP similar genes for CHD4 Gene using alignment to 5 proteins:

  • CHD4_HUMAN
  • F5GWX5_HUMAN
  • F5H596_HUMAN
  • F5H6N4_HUMAN
  • Q05CG6_HUMAN
genes like me logo Genes that share paralogs with CHD4: view

Variants for CHD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1012816 Uncertain Significance: not provided 6,601,291(-) T/C
NM_001273.5(CHD4):c.797A>G (p.Lys266Arg)
MISSENSE
1030325 Likely Pathogenic: Sifrim-Hitz-Weiss syndrome 6,587,898(-) G/A
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp)
MISSENSE
1030326 Likely Pathogenic: Sifrim-Hitz-Weiss syndrome 6,587,876(-) A/C
NM_001273.5(CHD4):c.3539T>G (p.Val1180Gly)
MISSENSE
1030327 Likely Pathogenic: Sifrim-Hitz-Weiss syndrome 6,587,867(-) C/T
NM_001273.5(CHD4):c.3548G>A (p.Arg1183His)
MISSENSE
1030328 Uncertain Significance: Sifrim-Hitz-Weiss syndrome 6,583,281(-) T/A
NM_001273.5(CHD4):c.3977A>T (p.Gln1326Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CHD4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CHD4 Gene

Variant ID Type Subtype PubMed ID
esv1065323 CNV deletion 17803354
esv2027881 CNV deletion 18987734
esv2675369 CNV deletion 23128226
nsv1068116 CNV deletion 25765185
nsv1070086 CNV deletion 25765185
nsv1110891 OTHER inversion 24896259
nsv509452 CNV insertion 20534489
nsv826210 CNV gain 20364138
nsv826211 CNV gain 20364138
nsv832322 CNV loss 17160897
nsv973982 CNV duplication 23825009

Variation tolerance for CHD4 Gene

Residual Variation Intolerance Score: 0.524% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHD4 Gene

Human Gene Mutation Database (HGMD)
CHD4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD4
Leiden Open Variation Database (LOVD)
CHD4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD4 Gene

Disorders for CHD4 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CHD4 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
sifrim-hitz-weiss syndrome
  • sihiwes
chd4 neurodevelopmental disorder
  • sifrim-hitz-weiss syndrome
cellular schwannoma
  • cellular neurinoma
dermatomyositis
  • amyopathic dermatomyositis
schizophrenia 8
  • sczd8
- elite association - COSMIC cancer census association via MalaCards
Search CHD4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD4_HUMAN
  • Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. {ECO:0000269 PubMed:27479907, ECO:0000269 PubMed:27616479}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CHD4

genes like me logo Genes that share disorders with CHD4: view

No data available for Genatlas for CHD4 Gene

Publications for CHD4 Gene

  1. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. (PMID: 27479907) Sifrim A … Hurles ME (Nature genetics 2016) 3 4 72
  2. Mi-2 beta associates with BRG1 and RET finger protein at the distinct regions with transcriptional activating and repressing abilities. (PMID: 14530259) Shimono Y … Takahashi M (The Journal of biological chemistry 2003) 3 4 22
  3. Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4. (PMID: 10545197) Schmidt DR … Schreiber SL (Biochemistry 1999) 3 4 22
  4. Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex. (PMID: 9804427) Tong JK … Schreiber SL (Nature 1998) 3 4 22
  5. The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. (PMID: 7575689) Seelig HP … Genth E (Arthritis and rheumatism 1995) 2 3 4

Products for CHD4 Gene

Sources for CHD4 Gene