Gene Gene information from NCBI Gene database.
Entrez ID 1108
Gene name Chromodomain helicase DNA binding protein 4
Gene symbol CHD4
Synonyms (NCBI Gene)
CHD-4Mi-2bMi2-BETASIHIWES
Chromosome 12
Chromosome location 12p13.31
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 d
SNPs SNP information provided by dbSNP.
14
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.
664
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MBD2 Unknown 23071088
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603277 1919 ENSG00000111642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
181
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHD4-related disorder Likely pathogenic; Pathogenic rs2136213384, rs2540396222, rs2540391121, rs1555170507 RCV003978459
RCV003391665
RCV003898920
RCV004545782
Moyamoya angiopathy with developmental delay Likely pathogenic rs1948532502, rs1229933151, rs1435884753, rs1948698590 RCV001261729
RCV001261730
RCV001261686
RCV001261727
Neonatal encephalopathy Likely pathogenic rs2540401004 RCV003154302
Ovarian serous cystadenocarcinoma Likely pathogenic rs2136221257 RCV005922502
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs201636143 RCV005926006
Cervical cancer Likely benign rs148705976, rs201636143 RCV005925721
RCV005926007
Cholangiocarcinoma Benign rs7316626 RCV005928087
Cleft palate Conflicting classifications of pathogenicity rs766680001 RCV005626807
Associations from Text MiningDisease 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