Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1108
Gene name Gene Name - the full gene name approved by the HGNC.
Chromodomain helicase DNA binding protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHD4
Synonyms (NCBI Gene) Gene synonyms aliases
CHD-4, Mi-2b, Mi2-BETA, SIHIWES
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez 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 d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886039915 C>T Pathogenic Coding sequence variant, missense variant
rs886039916 G>T Pathogenic Coding sequence variant, missense variant
rs886039917 C>T Pathogenic Coding sequence variant, missense variant
rs886039918 C>A Pathogenic Coding sequence variant, missense variant
rs886039919 C>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004656 hsa-miR-491-5p Luciferase reporter assay 20065103
MIRT016455 hsa-miR-193b-3p Proteomics 21512034
MIRT027771 hsa-miR-98-5p Microarray 19088304
MIRT032436 hsa-let-7b-5p Proteomics 18668040
MIRT032436 hsa-let-7b-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
MBD2 Unknown 23071088
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 25593309
GO:0000781 Component Chromosome, telomeric region IDA 25150861
GO:0000785 Component Chromatin HDA 16217013
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603277 1919 ENSG00000111642
Protein
UniProt ID Q14839
Protein name Chromodomain-helicase-DNA-binding protein 4 (CHD-4) (EC 3.6.4.-) (ATP-dependent helicase CHD4) (Mi-2 autoantigen 218 kDa protein) (Mi2-beta)
Protein function ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666, PubMed:32543371). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440,
PDB 1MM2 , 1MM3 , 2EE1 , 2L5U , 2L75 , 2N5N , 4O9I , 6BGG , 6Q3M , 6RYR , 6RYU , 8D4Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08073 CHDNT 164 217 CHDNT (NUC034) domain Domain
PF00628 PHD 372 417 PHD-finger Domain
PF00628 PHD 451 496 PHD-finger Domain
PF00385 Chromo 622 674 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00176 SNF2_N 699 1025 SNF2 family N-terminal domain Family
PF00271 Helicase_C 1050 1164 Helicase conserved C-terminal domain Family
PF06465 DUF1087 1292 1352 Domain of Unknown Function (DUF1087) Domain
PF06461 DUF1086 1380 1521 Domain of Unknown Function (DUF1086) Domain
PF08074 CHDCT2 1725 1851 CHDCT2 (NUC038) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:28977666}.
Sequence
MASGLGSPSPCSAGSEEEDMDALLNNSLPPPHPENEEDPEEDLSETETPKLKKKKKPKKP
RDPKIPKSKRQKKERMLLCRQLGDSSGEGPEFVEEEEEVALRSDSEGSDYTPGKKKKKKL
GPKKEKKSKSKRKEEEEEEDDDDDSKEPKSSAQLLEDWGMEDIDHVFSEEDYRTLTNYKA
FSQFVRPLIAAKNPKIAVSKMMMVLGAKWREFSTNNP
FKGSSGASVAAAAAAAVAVVESM
VTATEVAPPPPPVEVPIRKAKTKEGKGPNARRKPKGSPRVPDAKKPKPKKVAPLKIKLGG
FGSKRKRSSSEDDDLDVESDFDDASINSYSVSDGSTSRSSRSRKKLRTTKKKKKGEEEVT
AVDGYETDHQDYCEVCQQGGEIILCDTCPRAYHMVCLDPDMEKAPEGKWSCPHCEKEGIQ
WEAKEDNSEGEEILEEVGGDLEEEDDHHMEFCRVCKDGGELLCCDTCPSSYHIHCLNPPL
PEIPNGEWLCPRCTCP
ALKGKVQKILIWKWGQPPSPTPVPRPPDADPNTPSPKPLEGRPE
RQFFVKWQGMSYWHCSWVSELQLELHCQVMFRNYQRKNDMDEPPSGDFGGDEEKSRKRKN
KDPKFAEMEERFYRYGIKPEWMMIHRILNHSVDKKGHVHYLIKWRDLPYDQASWESEDVE
IQDYDLFKQSYWNH
RELMRGEEGRPGKKLKKVKLRKLERPPETPTVDPTVKYERQPEYLD
ATGGTLHPYQMEGLNWLRFSWAQGTDTILADEMGLGKTVQTAVFLYSLYKEGHSKGPFLV
SAPLSTIINWEREFEMWAPDMYVVTYVGDKDSRAIIRENEFSFEDNAIRGGKKASRMKKE
ASVKFHVLLTSYELITIDMAILGSIDWACLIVDEAHRLKNNQSKFFRVLNGYSLQHKLLL
TGTPLQNNLEELFHLLNFLTPERFHNLEGFLEEFADIAKEDQIKKLHDMLGPHMLRRLKA
DVFKNMPSKTELIVRVELSPMQKKYYKYILTRNFEALNARGGGNQVSLLNVVMDLKKCCN
HPYLF
PVAAMEAPKMPNGMYDGSALIRASGKLLLLQKMLKNLKEGGHRVLIFSQMTKMLD
LLEDFLEHEGYKYERIDGGITGNMRQEAIDRFNAPGAQQFCFLLSTRAGGLGINLATADT
VIIYDSDWNPHNDIQAFSRAHRIG
QNKKVMIYRFVTRASVEERITQVAKKKMMLTHLVVR
PGLGSKTGSMSKQELDDILKFGTEELFKDEATDGGGDNKEGEDSSVIHYDDKAIERLLDR
NQDETEDTELQGMNEYLSSFKVAQYVVREEEMGEEEEVEREIIKQEESVDPDYWEKLLRH
HYEQQQEDLARNLGKGKRIRKQVNYNDGSQED
RDWQDDQSDNQSDYSVASEEGDEDFDER
SEAPRRPSRKGLRNDKDKPLPPLLARVGGNIEVLGFNARQRKAFLNAIMRYGMPPQDAFT
TQWLVRDLRGKSEKEFKAYVSLFMRHLCEPGADGAETFADGVPREGLSRQHVLTRIGVMS
LIRKKVQEFEHVNGRWSMPEL
AEVEENKKMSQPGSPSPKTPTPSTPGDTQPNTPAPVPPA
EDGIKIEENSLKEEESIEGEKEVKSTAPETAIECTQAPAPASEDEKVVVEPPEGEEKVEK
AEVKERTEEPMETEPKGAADVEKVEEKSAIDLTPIVVEDKEEKKEEEEKKEVMLQNGETP
KDLNDEKQKKNIKQRFMFNIADGGFTELHSLWQNEERAATVTKKTYEIWHRRHDYWLLAG
IINHGYARWQDIQNDPRYAILNEPFKGEMNRGNFLEIKNKFLARRFKLLEQALVIEEQLR
RAAYLNMSEDPSHPSMALNTRFAEVECLAESHQHLSKESMAGNKPANAVLH
KVLKQLEEL
LSDMKADVTRLPATIARIPPVAVRLQMSERNILSRLANRAPEPTPQQVAQQQ
Sequence length 1912
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Human papillomavirus infection
Viral carcinogenesis
  HDACs deacetylate histones
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription
NGF-stimulated transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
SIFRIM-HITZ-WEISS SYNDROME sifrim-hitz-weiss syndrome rs886039915, rs886039916, rs886039917, rs886039918, rs886039919, rs1060499583, rs1592270989, rs1592273799 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Mental retardation syndromic intellectual disability N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma of Lung Associate 29667179
Alcohol Related Disorders Associate 31388190
Apraxias Associate 31949314
Arrhythmia Sinus Associate 34109749
Arrhythmias Cardiac Associate 34109749
Arterial Occlusive Diseases Associate 31474762
Brain Diseases Associate 31388190
Breast Neoplasms Associate 33741961, 38281186
Calcinosis Cutis Associate 31668133