CHD4

For the TC LID, see Thamesford (Harydale Farms) Aerodrome.

Chromodomain-helicase-DNA-binding protein 4 is an enzyme that in humans is encoded by the CHD4 gene.^[5][6][7] CHD4 is the core nucleosome-remodelling component of the Nucleosome Remodelling and Deacetylase (NuRD) complex.^[8][9][10]

CHD4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MM2, 1MM3, 2EE1, 2L5U, 2L75, 4O9I, 2N5N
Identifiers
Aliases	CHD4, CHD-4, Mi-2b, Mi2-BETA, chromodomain helicase DNA binding protein 4, SIHIWES
External IDs	OMIM: 603277; MGI: 1344380; HomoloGene: 68175; GeneCards: CHD4; OMA:CHD4 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.31 Start 6,570,082 bp[1] End 6,614,524 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F2|6 59.28 cM Start 125,072,944 bp[2] End 125,107,554 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence epithelium of colon right lobe of thyroid gland anterior pituitary sural nerve apex of heart right adrenal cortex left lobe of thyroid gland right coronary artery Top expressed in Ileal epithelium Rostral migratory stream choroid plexus of fourth ventricle tail of embryo genital tubercle entorhinal cortex perirhinal cortex neural layer of retina ventricular zone yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding nucleotide binding helicase activity DNA helicase activity transcription factor binding metal ion binding protein binding nucleosomal DNA binding hydrolase activity ATP binding histone deacetylase activity histone deacetylase binding zinc ion binding Cellular component cytoplasm NuRD complex centrosome membrane nucleoplasm microtubule organizing center protein-DNA complex cytoskeleton nucleus protein-containing complex Biological process regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II transcription, DNA-templated terminal button organization histone deacetylation DNA duplex unwinding regulation of signal transduction by p53 class mediator chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1108 107932 Ensembl ENSG00000111642 ENSMUSG00000063870 UniProt Q14839 Q6PDQ2 RefSeq (mRNA) NM_001273 NM_001297553 NM_001363606 NM_145979 NM_001346610 RefSeq (protein) NP_001264 NP_001284482 NP_001350535 NP_001333539 NP_666091 NP_001390521 NP_001390522 NP_001390523 NP_001390524 NP_001390525 NP_001390526 NP_001390527 Location (UCSC) Chr 12: 6.57 – 6.61 Mb Chr 6: 125.07 – 125.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.^[7]

Interactions

CHD4 has been shown to interact with HDAC1,^[11][12][13] Histone deacetylase 2,^[13][14][15] MTA2,^[11] SATB1^[16] and Ataxia telangiectasia and Rad3 related.^[15]

Clinical

Mutations in this gene have been associated with a condition known as Sifrim-Hitz-Weiss syndrome.^[17] This condition is characterized by

• Brain anomalies
• Macrocephaly
• Deafness
• Ophthalmic abnormalities
• Dysmorphic features
• Congenital heart defects
• Hypogonadism in males
• Skeletal and limb anomalies
• Global developmental delay
• Mild to moderate intellectual disability