• Gene id: 1108

Gene Summary

• Gene Symbol: CHD4   Gene   UCSC   Ensembl
• Aliases: CHD-4, Mi-2b, Mi2-BETA, SIHIWES
• Gene name: chromodomain helicase DNA binding protein 4
• Alternate names: chromodomain-helicase-DNA-binding protein 4, ATP-dependent helicase CHD4, Mi-2 autoantigen 218 kDa protein,
• Gene location: 12p13.31 (6607378: 6570081)     Exons: 40     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 603277

Protein Summary

• Protein general information: Q14839  
  • Name: Chromodomain helicase DNA binding protein 4 (CHD 4) (EC 3.6.4.12) (ATP dependent helicase CHD4) (Mi 2 autoantigen 218 kDa protein) (Mi2 beta)
  • Length: 1912  
  • Mass: 218005
• Sequence:

  MASGLGSPSPCSAGSEEEDMDALLNNSLPPPHPENEEDPEEDLSETETPKLKKKKKPKKPRDPKIPKSKRQKKER
  MLLCRQLGDSSGEGPEFVEEEEEVALRSDSEGSDYTPGKKKKKKLGPKKEKKSKSKRKEEEEEEDDDDDSKEPKS
  SAQLLEDWGMEDIDHVFSEEDYRTLTNYKAFSQFVRPLIAAKNPKIAVSKMMMVLGAKWREFSTNNPFKGSSGAS
  VAAAAAAAVAVVESMVTATEVAPPPPPVEVPIRKAKTKEGKGPNARRKPKGSPRVPDAKKPKPKKVAPLKIKLGG
  FGSKRKRSSSEDDDLDVESDFDDASINSYSVSDGSTSRSSRSRKKLRTTKKKKKGEEEVTAVDGYETDHQDYCEV
  CQQGGEIILCDTCPRAYHMVCLDPDMEKAPEGKWSCPHCEKEGIQWEAKEDNSEGEEILEEVGGDLEEEDDHHME
  FCRVCKDGGELLCCDTCPSSYHIHCLNPPLPEIPNGEWLCPRCTCPALKGKVQKILIWKWGQPPSPTPVPRPPDA
  DPNTPSPKPLEGRPERQFFVKWQGMSYWHCSWVSELQLELHCQVMFRNYQRKNDMDEPPSGDFGGDEEKSRKRKN
  KDPKFAEMEERFYRYGIKPEWMMIHRILNHSVDKKGHVHYLIKWRDLPYDQASWESEDVEIQDYDLFKQSYWNHR
  ELMRGEEGRPGKKLKKVKLRKLERPPETPTVDPTVKYERQPEYLDATGGTLHPYQMEGLNWLRFSWAQGTDTILA
  DEMGLGKTVQTAVFLYSLYKEGHSKGPFLVSAPLSTIINWEREFEMWAPDMYVVTYVGDKDSRAIIRENEFSFED
  NAIRGGKKASRMKKEASVKFHVLLTSYELITIDMAILGSIDWACLIVDEAHRLKNNQSKFFRVLNGYSLQHKLLL
  TGTPLQNNLEELFHLLNFLTPERFHNLEGFLEEFADIAKEDQIKKLHDMLGPHMLRRLKADVFKNMPSKTELIVR
  VELSPMQKKYYKYILTRNFEALNARGGGNQVSLLNVVMDLKKCCNHPYLFPVAAMEAPKMPNGMYDGSALIRASG
  KLLLLQKMLKNLKEGGHRVLIFSQMTKMLDLLEDFLEHEGYKYERIDGGITGNMRQEAIDRFNAPGAQQFCFLLS
  TRAGGLGINLATADTVIIYDSDWNPHNDIQAFSRAHRIGQNKKVMIYRFVTRASVEERITQVAKKKMMLTHLVVR
  PGLGSKTGSMSKQELDDILKFGTEELFKDEATDGGGDNKEGEDSSVIHYDDKAIERLLDRNQDETEDTELQGMNE
  YLSSFKVAQYVVREEEMGEEEEVEREIIKQEESVDPDYWEKLLRHHYEQQQEDLARNLGKGKRIRKQVNYNDGSQ
  EDRDWQDDQSDNQSDYSVASEEGDEDFDERSEAPRRPSRKGLRNDKDKPLPPLLARVGGNIEVLGFNARQRKAFL
  NAIMRYGMPPQDAFTTQWLVRDLRGKSEKEFKAYVSLFMRHLCEPGADGAETFADGVPREGLSRQHVLTRIGVMS
  LIRKKVQEFEHVNGRWSMPELAEVEENKKMSQPGSPSPKTPTPSTPGDTQPNTPAPVPPAEDGIKIEENSLKEEE
  SIEGEKEVKSTAPETAIECTQAPAPASEDEKVVVEPPEGEEKVEKAEVKERTEEPMETEPKGAADVEKVEEKSAI
  DLTPIVVEDKEEKKEEEEKKEVMLQNGETPKDLNDEKQKKNIKQRFMFNIADGGFTELHSLWQNEERAATVTKKT
  YEIWHRRHDYWLLAGIINHGYARWQDIQNDPRYAILNEPFKGEMNRGNFLEIKNKFLARRFKLLEQALVIEEQLR
  RAAYLNMSEDPSHPSMALNTRFAEVECLAESHQHLSKESMAGNKPANAVLHKVLKQLEELLSDMKADVTRLPATI
  ARIPPVAVRLQMSERNILSRLANRAPEPTPQQVAQQQ

• Structural information:
  • Protein Domains: (494..59-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (622..69-)
    (/note="Chromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (738..92-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR028725  IPR012957  IPR012958  IPR016197  IPR000953   IPR023780  IPR002464  IPR009462  IPR009463  IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS00598 PS50013 PS00690 PS51192 PS51194 PS01359 PS50016
  • PDB: 1MM2 1MM3 2EE1 2L5U 2L75 2N5N 4O9I 6BGG 6Q3M
  • PDBsum: 1MM2 1MM3 2EE1 2L5U 2L75 2N5N 4O9I 6BGG 6Q3M
  • DIP: 31183
  • STRING: ENSP00000349508
• Other Databases: GeneCards:  CHD4  Malacards:  CHD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016581	NuRD complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0016581	NuRD complex	IEA	cellular component
GO:0001103	RNA polymerase II repressing transcription factor binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032991	protein-containing complex	HDA	cellular component
GO:0031492	nucleosomal DNA binding	HDA	contributes to
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Sifrim-Hitz-Weiss syndrome	KEGG:H02328
Sifrim-Hitz-Weiss syndrome	KEGG:H02328
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray