• Gene id: 57680

Gene Summary

• Gene Symbol: CHD8   Gene   UCSC   Ensembl
• Aliases: AUTS18, HELSNF1
• Gene name: chromodomain helicase DNA binding protein 8
• Alternate names: chromodomain-helicase-DNA-binding protein 8, ATP-dependent helicase CHD8, axis duplication inhibitor, duplin, helicase with SNF2 domain 1,
• Gene location: 14q11.2 (21456122: 21385198)     Exons: 39     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common
• OMIM: 602835

Protein Summary

• Protein general information: Q9HCK8  
  • Name: Chromodomain helicase DNA binding protein 8 (CHD 8) (EC 3.6.4.12) (ATP dependent helicase CHD8) (Helicase with SNF2 domain 1)
  • Length: 2581  
  • Mass: 290519
• Sequence:

  MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASELVPPPEETAP
  TELSKESTAPAPESITLHDYTTQPASQEQPAQPVLQTSTPTSGLLQVSKSQEILSQGNPFMGVSATAVSSSSAGG
  QPPQSAPKIVILKAPPSSSVTGAHVAQIQAQGITSTAQPLVAGTANGGKVTFTKVLTGTPLRPGVSIVSGNTVLA
  AKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQ
  GHRHVVLGSLPGKIVLQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSSQPQPQQPPSTQPVTL
  SSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVKVLSASEVAALSSPASSAPHSGGKTGMEENR
  RLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGAS
  KTKGKSKLNTITPVVGKKRKRNTSSDNSDVEVMPAQSPREDEESSIQKRRSNRQVKRKKYTEDLDIKITDDEEEE
  EVDVTGPIKPEPILPEPVQEPDGETLPSMQFFVENPSEEDAAIVDKVLSMRIVKKELPSGQYTEAEEFFVKYKNY
  SYLHCEWATISQLEKDKRIHQKLKRFKTKMAQMRHFFHEDEEPFNPDYVEVDRILDESHSIDKDNGEPVIYYLVK
  WCSLPYEDSTWELKEDVDEGKIREFKRIQSRHPELKRVNRPQASAWKKLELSHEYKNRNQLREYQLEGVNWLLFN
  WYNRQNCILADEMGLGKTIQSIAFLQEVYNVGIHGPFLVIAPLSTITNWEREFNTWTEMNTIVYHGSLASRQMIQ
  QYEMYCKDSRGRLIPGAYKFDALITTFEMILSDCPELREIEWRCVIIDEAHRLKNRNCKLLDSLKHMDLEHKVLL
  TGTPLQNTVEELFSLLHFLEPSQFPSESEFLKDFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAPKQETIIE
  VELTNIQKKYYRAILEKNFSFLSKGAGHTNMPNLLNTMMELRKCCNHPYLINGAEEKILTEFREACHIIPHDFHL
  QAMVRSAGKLVLIDKLLPKLKAGGHKVLIFSQMVRCLDILEDYLIQRRYLYERIDGRVRGNLRQAAIDRFSKPDS
  DRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKAVKVYRLITRNSYEREMFDKASLKL
  GLDKAVLQSMSGRDGNITGIQQFSKKEIEDLLRKGAYAAIMEEDDEGSKFCEEDIDQILLRRTTTITIESEGKGS
  TFAKASFVASENRTDISLDDPNFWQKWAKKADLDMDLLNSKNNLVIDTPRVRKQTRHFSTLKDDDLVEFSDLESE
  DDERPRSRRHDRHHAYGRTDCFRVEKHLLVYGWGRWRDILSHGRFKRRMTERDVETICRAILVYCLLHYRGDENI
  KGFIWDLISPAENGKTKELQNHSGLSIPVPRGRKGKKVKSQSTFDIHKADWIRKYNPDTLFQDESYKKHLKHQCN
  KVLLRVRMLYYLRQEVIGDQAEKVLGGAIASEIDIWFPVVDQLEVPTTWWDSEADKSLLIGVFKHGYEKYNTMRA
  DPALCFLEKAGRPDDKAIAAEHRVLDNFSDIVEGVDFDKDCEDPEYKPLQGPPKDQDDEGDPLMMMDEEISVIDG
  DEAQVTQQPGHLFWPPGSALTARLRRLVTAYQRSYKREQMKIEAAERGDRRRRRCEAAFKLKEIARREKQQRWTR
  REQTDFYRVVSTFGVEYDPDTMQFHWDRFRTFARLDKKTDESLTKYFHGFVAMCRQVCRLPPAAGDEPPDPNLFI
  EPITEERASRTLYRIELLRRLREQVLCHPLLEDRLALCQPPGPELPKWWEPVRHDGELLRGAARHGVSQTDCNIM
  QDPDFSFLAARMNYMQNHQAGAPAPSLSRCSTPLLHQQYTSRTASPLPLRPDAPVEKSPEETATQVPSLESLTLK
  LEHEVVARSRPTPQDYEMRVSPSDTTPLVSRSVPPVKLEDEDDSDSELDLSKLSPSSSSSSSSSSSSSSTDESED
  EKEEKLTDQSRSKLYDEESLLSLTMSQDGFPNEDGEQMTPELLLLQERQRASEWPKDRVLINRIDLVCQAVLSGK
  WPSSRRSQEMVTGGILGPGNHLLDSPSLTPGEYGDSPVPTPRSSSAASMAEEEASAVSTAAAQFTKLRRGMDEKE
  FTVQIKDEEGLKLTFQKHKLMANGVMGDGHPLFHKKKGNRKKLVELEVECMEEPNHLDVDLETRIPVINKVDGTL
  LVGEDAPRRAELEMWLQGHPEFAVDPRFLAYMEDRRKQKWQRCKKNNKAELNCLGMEPVQTANSRNGKKGHHTET
  VFNRVLPGPIAPESSKKRARRMRPDLSKMMALMQGGSTGSLSLHNTFQHSSSGLQSVSSLGHSSATSASLPFMPF
  VMGGAPSSPHVDSSTMLHHHHHHPHPHHHHHHHPGLRAPGYPSSPVTTASGTTLRLPPLQPEEDDDEDEEDDDDL
  SQGYDSSERDFSLIDDPMMPANSDSSEDADD

• Structural information:
  • Protein Domains: (642..70-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03071-)
    (724..79-)
    (/note="Chromo-2)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03071-)
    (823..99-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03071-)
  • Interpro: IPR006576  IPR037259  IPR034724  IPR016197  IPR000953   IPR023780  IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  
  • Prosite: PS50013 PS51192 PS51194
  • PDB: 2CKA 2DL6
  • PDBsum: 2CKA 2DL6
  • DIP: 38021
  • STRING: ENSP00000382863
• Other Databases: GeneCards:  CHD8  Malacards:  CHD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071339	MLL1 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042393	histone binding	ISS	molecular function
GO:0002039	p53 binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
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:2000270	negative regulation of fibroblast apoptotic process	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0035176	social behavior	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0002039	p53 binding	IEA	molecular function
GO:0001964	startle response	IEA	biological process
GO:0070016	armadillo repeat domain binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0060134	prepulse inhibition	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0007420	brain development	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0048565	digestive tract development	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0071339	MLL1 complex	IEA	cellular component
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0008094	DNA-dependent ATPase activity	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0002039	p53 binding	IEA	molecular function
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
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:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003677	DNA binding	IMP	molecular function
GO:0045945	positive regulation of transcription by RNA polymerase III	IMP	biological process
GO:0003678	DNA helicase activity	IMP	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Autism	KEGG:H02111
Autism	KEGG:H02111
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881