• Gene id: 84181

Gene Summary

• Gene Symbol: CHD6   Gene   UCSC   Ensembl
• Aliases: CHD-6, CHD5, RIGB
• Gene name: chromodomain helicase DNA binding protein 6
• Alternate names: chromodomain-helicase-DNA-binding protein 6, ATP-dependent helicase CHD6, helicase C-terminal domain- and SNF2 N-terminal domain-containing protein, radiation-induced gene B protein,
• Gene location: 20q12 (41618376: 41402082)     Exons: 43     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specifi
• OMIM: 608060

Protein Summary

• Protein general information: Q8TD26  
  • Name: Chromodomain helicase DNA binding protein 6 (CHD 6) (EC 3.6.4.12) (ATP dependent helicase CHD6) (Radiation induced gene B protein)
  • Length: 2715  
  • Mass: 305412
  • Tissue specificity: Widely expressed.
• Sequence:

  MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKDLYTAEEEAATLFPRK
  MTSHNGMEDSGGGGTGVKKKRKKKEPGDQEGAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEPKQKDG
  AKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESLELDQGLTNPSLRSPE
  ESTESTDSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILAS
  KTVQEVHPGEPPFDLELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYV
  EVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDPAKVKEFESLQVLPEIKHVERPASDSWQKLE
  KSREYKNSNQLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWE
  REFRTWTEMNAIVYHGSQISRQMIQQYEMVYRDAQGNPLSGVFKFHVVITTFEMILADCPELKKIHWSCVIIDEA
  HRLKNRNCKLLEGLKLMALEHKVLLTGTPLQNSVEELFSLLNFLEPSQFPSETAFLEEFGDLKTEEQVKKLQSIL
  KPMMLRRLKDDVEKNLAPKQETIIEVELTNIQKKYYRAILEKNFSFLTKGANQHNMPNLINTMMELRKCCNHPYL
  INGAEEKILEDFRKTHSPDAPDFQLQAMIQAAGKLVLIDKLLPKLIAGGHKVLIFSQMVRCLDILEDYLIQRRYT
  YERIDGRVRGNLRQAAIDRFCKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSK
  AVKVYRLITRNSYEREMFDKASLKLGLDKAVLQDINRKGGTNGVQQLSKMEVEDLLRKGAYGALMDEEDEGSKFC
  EEDIDQILQRRTHTITIQSEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKIAELDTEAKNEKESLVIDRPRV
  RKQTKHYNSFEEDELMEFSELDSDSDERPTRSRRLNDKARRYLRAECFRVEKNLLIFGWGRWKDILTHGRFKWHL
  NEKDMEMICRALLVYCVKHYKGDEKIKSFIWELITPTKDGQAQTLQNHSGLSAPVPRGRKGKKTKNQLLIPELKD
  ADWLATCNPEVVLHDDGYKKHLKQHCNKVLLRVRMLYYLKAEILGEAAEKAFEGSPARELDVPLPDIDYMEIPVD
  WWDAEADKSLLIGVFKHGYERYNAMRADPALCFLEKVGMPDEKSLSAEQGVTDGTSDIPERGNTDKEDNAEDKVD
  GLQKQTESSSDGGDGVFSEKKDDSRAAQDGSDPDKSPWPVSSALTARLRRLVTVYQRCNRKELCRPEILGPGNQG
  YWVQEEMFRRTSEMDLINKEAQKRWTRREQADFYRTVSSFGVVYDQEKKTFDWTQFRIISRLDKKSDESLEQYFY
  SFVAMCRNVCRLPTWKDGGPPDTTIYVEPITEERAARTLYRIELLRKVREQVLKCPQLHERLQLCRPSLYLPVWW
  ECGKHDRDLLIGTAKHGLNRTDCYIMNDPQLSFLDAYRNYAQHKRSGTQAPGNLCCLYQTNSKLYESLTYSQMSR
  TSESLENEPENLVRVESRDDHLSLPDVTCENFISKVQDVISINHDESLLPESLESMMYGKKVLSQEPSSFQESPS
  TNTESRKDVITISISKDGNCQSGGPEAEIASGPTFMGSLEAGGVAQANIKNGKHLLMSISKEGELCCSEAGQRPE
  NIGQLEAKCLASPSLNPGNESGFVDMCSLSVCDSKRNLSSDQQLIDLLENKSLESKLILSQNHSDEEEEEEENEE
  ENLAMAVGMGERPEVLHLTEPTTNISREKNQGFQDETKKGSLEVANQTPGLQRAFPAPAACQCHCKHMERWMHGL
  ENDEFEIEKPKAYIPDLFKSKTNTIAMEGEPTAIPSQPFKVKHELLKEPWKESAEGQNVFPTYPLEGSELKSEDM
  DFENKDDYDRDGNCHSQDYPGKYSEEESKSSTSGITGDIGDELQEARAPTIAQLLQEKTLYSFSEWPKDRVIINR
  LDNICHVVLKGKWPSSQQYEPSGTLPTPVLTSSAGSRTSLSEPEAAEHSFSNGAALAAQIHKESFLAPVFTKDEQ
  KHRRPYEFEVERDAKARGLEQFSATHGHTPIILNGWHGESAMDLSCSSEGSPGATSPFPVSASTPKIGAISSLQG
  ALGMDLSGILQAGLIHPVTGQIVNGSLRRDDAATRRRRGRRKHVEGGMDLIFLKEQTLQAGILEVHEDPGQATLS
  TTHPEGPGPATSAPEPATAASSQAEKSIPSKSLLDWLRQQADYSLEVPGFGANFSDKPKQRRPRCKEPGKLDVSS
  LSGEERVPAIPKEPGLRGFLPENKFNHTLAEPILRDTGPRRRGRRPRSELLKAPSIVADSPSGMGPLFMNGLIAG
  MDLVGLQNMRNMPGIPLTGLVGFPAGFATMPTGEEVKSTLSMLPMMLPGMAAVPQMFGVGGLLSPPMATTCTSTA
  PASLSSTTKSGTAVTEKTAEDKPSSHDVKTDTLAEDKPGPGPFSDQSEPAITTSSPVAFNPFLIPGVSPGLIYPS
  MFLSPGMGMALPAMQQARHSEIVGLESQKRKKKKTKGDNPNSHPEPAPSCEREPSGDENCAEPSAPLPAEREHGA
  QAGEGALKDSNNDTN

• Structural information:
  • Protein Domains: (292..34-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (375..43-)
    (/note="Chromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (473..64-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR006576  IPR037259  IPR016197  IPR000953  IPR023780   IPR002464  IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  
  • Prosite: PS50013 PS00690 PS51192 PS51194
  • PDB: 2EPB
  • PDBsum: 2EPB
  • STRING: ENSP00000362330
• Other Databases: GeneCards:  CHD6  Malacards:  CHD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0036091	positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IMP	biological process
GO:0001221	transcription cofactor binding	IPI	molecular function
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0005524	ATP 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:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0036091	positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IMP	biological process
GO:0001221	transcription cofactor binding	IPI	molecular function
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0005524	ATP 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:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq