• Gene id: 1107

Gene Summary

• Gene Symbol: CHD3   Gene   UCSC   Ensembl
• Aliases: Mi-2a, Mi2-ALPHA, SNIBCPS, ZFH
• Gene name: chromodomain helicase DNA binding protein 3
• Alternate names: chromodomain-helicase-DNA-binding protein 3, ATP-dependent helicase CHD3, CHD-3, hZFH, mi-2 autoantigen 240 kDa protein, zinc finger helicase, zinc-finger helicase (Snf2-like),
• Gene location: 17p13.1 (7884763: 7912754)     Exons: 44     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase c
• OMIM: 604134

SNPs

rs1129332

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

Protein Summary

• Protein general information: Q12873  
  • Name: Chromodomain helicase DNA binding protein 3 (CHD 3) (EC 3.6.4.12) (ATP dependent helicase CHD3) (Mi 2 autoantigen 240 kDa protein) (Mi2 alpha) (Zinc finger helicase) (hZFH)
  • Length: 2000  
  • Mass: 226592
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MKAADTVILWARSKNDQLRISFPPGLCWGDRMPDKDDIRLLPSALGVKKRKRGPKKQKENKPGKPRKRKKRDSEE
  EFGSERDEYREKSESGGSEYGTGPGRKRRRKHREKKEKKTKRRKKGEGDGGQKQVEQKSSATLLLTWGLEDVEHV
  FSEEDYHTLTNYKAFSQFMRPLIAKKNPKIPMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAEQVS
  AAVSSATPIAPSGPPALPPPPAADIQPPPIRRAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLG
  GKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRGRPGRKKKKVLGCPAVAGEEEVDGYE
  TDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELDRAPEGKWSCPHCEKEGVQWEAKEEEEEYEEEGEEEGEKE
  EEDDHMEYCRVCKDGGELLCCDACISSYHIHCLNPPLPDIPNGEWLCPRCTCPVLKGRVQKILHWRWGEPPVAVP
  APQQADGNPDVPPPRPLQGRSEREFFVKWVGLSYWHCSWAKELQLEIFHLVMYRNYQRKNDMDEPPPLDYGSGED
  DGKSDKRKVKDPHYAEMEEKYYRFGIKPEWMTVHRIINHSVDKKGNYHYLVKWRDLPYDQSTWEEDEMNIPEYEE
  HKQSYWRHRELIMGEDPAQPRKYKKKKKELQGDGPPSSPTNDPTVKYETQPRFITATGGTLHMYQLEGLNWLRFS
  WAQGTDTILADEMGLGKTIQTIVFLYSLYKEGHTKGPFLVSAPLSTIINWEREFQMWAPKFYVVTYTGDKDSRAI
  IRENEFSFEDNAIKGGKKAFKMKREAQVKFHVLLTSYELITIDQAALGSIRWACLVVDEAHRLKNNQSKFFRVLN
  GYKIDHKLLLTGTPLQNNLEELFHLLNFLTPERFNNLEGFLEEFADISKEDQIKKLHDLLGPHMLRRLKADVFKN
  MPAKTELIVRVELSPMQKKYYKYILTRNFEALNSRGGGNQVSLLNIMMDLKKCCNHPYLFPVAAMESPKLPSGAY
  EGGALIKSSGKLMLLQKMLRKLKEQGHRVLIFSQMTKMLDLLEDFLDYEGYKYERIDGGITGALRQEAIDRFNAP
  GAQQFCFLLSTRAGGLGINLATADTVIIFDSDWNPHNDIQAFSRAHRIGQANKVMIYRFVTRASVEERITQVAKR
  KMMLTHLVVRPGLGSKAGSMSKQELDDILKFGTEELFKDENEGENKEEDSSVIHYDNEAIARLLDRNQDATEDTD
  VQNMNEYLSSFKVAQYVVREEDKIEEIEREIIKQEENVDPDYWEKLLRHHYEQQQEDLARNLGKGKRVRKQVNYN
  DAAQEDQDNQSEYSVGSEEEDEDFDERPEGRRQSKRQLRNEKDKPLPPLLARVGGNIEVLGFNTRQRKAFLNAVM
  RWGMPPQDAFTTQWLVRDLRGKTEKEFKAYVSLFMRHLCEPGADGSETFADGVPREGLSRQQVLTRIGVMSLVKK
  KVQEFEHINGRWSMPELMPDPSADSKRSSRASSPTKTSPTTPEASATNSPCTSKPATPAPSEKGEGIRTPLEKEE
  AENQEEKPEKNSRIGEKMETEADAPSPAPSLGERLEPRKIPLEDEVPGVPGEMEPEPGYRGDREKSATESTPGER
  GEEKPLDGQEHRERPEGETGDLGKREDVKGDRELRPGPRDEPRSNGRREEKTEKPRFMFNIADGGFTELHTLWQN
  EERAAISSGKLNEIWHRRHDYWLLAGIVLHGYARWQDIQNDAQFAIINEPFKTEANKGNFLEMKNKFLARRFKLL
  EQALVIEEQLRRAAYLNLSQEPAHPAMALHARFAEAECLAESHQHLSKESLAGNKPANAVLHKVLNQLEELLSDM
  KADVTRLPATLSRIPPIAARLQMSERSILSRLASKGTEPHPTPAYPPGPYATPPGYGAAFSAAPVGALAAAGANY
  SQMPAGSFITAATNGPPVLVKKEKEMVGALVSDGLDRKEPRAGEVICIDD

• Structural information:
  • Protein Domains: (494..59-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (631..67-)
    (/note="Chromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (748..93-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR012957  IPR012958  IPR016197  IPR000953  IPR023780   IPR023779  IPR002464  IPR009462  IPR009463  IPR014001  IPR001650  IPR036910  IPR027417  IPR038718  IPR000330  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS00598 PS50013 PS00690 PS51192 PS51194 PS01359 PS50016
  • DIP: 32496
  • STRING: ENSP00000369716
• Other Databases: GeneCards:  CHD3  Malacards:  CHD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007098	centrosome cycle	IDA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0036121	double-stranded DNA helicase activity	IDA	molecular function
GO:0070615	nucleosome-dependent ATPase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
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: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: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:0016581	NuRD complex	IEA	cellular component
GO:0006333	chromatin assembly or disassembly	IEA	biological process
GO:0016581	NuRD complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0007051	spindle organization	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0004386	helicase activity	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq