• Gene id: 55636

Gene Summary

• Gene Symbol: CHD7   Gene   UCSC   Ensembl
• Aliases: CRG, HH5, IS3, KAL5
• Gene name: chromodomain helicase DNA binding protein 7
• Alternate names: chromodomain-helicase-DNA-binding protein 7, ATP-dependent helicase CHD7, CHARGE association, chromodomain helicase DNA binding protein 7 isoform CRA_e,
• Gene location: 8q12.2 (60678743: 60868027)     Exons: 42     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by Re
• OMIM: 608892

Protein Summary

• Protein general information: Q9P2D1  
  • Name: Chromodomain helicase DNA binding protein 7 (CHD 7) (EC 3.6.4.12) (ATP dependent helicase CHD7)
  • Length: 2997  
  • Mass: 335,927
• Sequence:

  MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQY
  EQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAV
  QVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRMSQFSQGQEGLNQGNP
  FIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVP
  SPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQ
  MNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGIPMEVGSYPNMPHPQPSHQPPGAMGIGQRNM
  GPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHH
  QSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKK
  KKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPK
  IPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRS
  SRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEE
  FYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEP
  VTHYLVKWCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEG
  VNWLLFNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQ
  ASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMD
  LEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRLKEDVEKNLAP
  KEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILEEFKETHNA
  ESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAID
  RFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMF
  DKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITI
  ESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELME
  FSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYC
  LNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQED
  SYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFK
  HGYEKYNSMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDEIDEFANSP
  SEDKEESMEIHATGKHSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRA
  LEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRV
  CRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL
  LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQAEGKV
  EEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDK
  SEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICE
  AVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQR
  RRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTPVS
  DAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFMSHKRTSLSAEDAEVTKAFEEDIE
  TPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQ
  KRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMF
  DRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGF
  PPGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNEN
  EDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALA
  GLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE

• Structural information:
  • Protein Domains: Chromo (800-867)
    Chromo (882-947)
    Helicase (980-1154)
    Helicase (1294-1464)
  • Interpro: IPR006576  IPR037259  IPR016197  IPR000953  IPR023780   IPR014001  IPR001650  IPR027417  IPR000330  
  • Prosite: PS50013 PS51192 PS51194
  • CDD: cd00024 cd00079
  • PDB: 2CKC 2V0E 2V0F
  • PDBsum: 2CKC 2V0E 2V0F
  • DIP: 48685
  • STRING: ENSP00000392028
• Other Databases: GeneCards:  CHD7  Malacards:  CHD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001501	skeletal system development	IMP	biological process
GO:0001701	in utero embryonic development	IMP	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0003682	chromatin binding	TAS	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0007417	central nervous system development	IMP	biological process
GO:0007512	adult heart development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0021545	cranial nerve development	IMP	biological process
GO:0021553	olfactory nerve development	IEA	biological process
GO:0021772	olfactory bulb development	IEA	biological process
GO:0030217	T cell differentiation	IMP	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:0042472	inner ear morphogenesis	IMP	biological process
GO:0043584	nose development	IMP	biological process
GO:0048752	semicircular canal morphogenesis	IEA	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0050890	cognition	IMP	biological process
GO:0060021	palate development	IMP	biological process
GO:0060041	retina development in camera-type eye	IMP	biological process
GO:0060123	regulation of growth hormone secretion	IMP	biological process
GO:0060173	limb development	IMP	biological process
GO:0060324	face development	IMP	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001501	skeletal system development	IMP	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001701	in utero embryonic development	IMP	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	TAS	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0007417	central nervous system development	IMP	biological process
GO:0007512	adult heart development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0021545	cranial nerve development	IMP	biological process
GO:0021553	olfactory nerve development	IEA	biological process
GO:0021772	olfactory bulb development	IEA	biological process
GO:0030217	T cell differentiation	IMP	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:0042471	ear morphogenesis	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0042472	inner ear morphogenesis	IMP	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043584	nose development	IEA	biological process
GO:0043584	nose development	IMP	biological process
GO:0048752	semicircular canal morphogenesis	IEA	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0050890	cognition	IMP	biological process
GO:0060021	palate development	IEA	biological process
GO:0060021	palate development	IMP	biological process
GO:0060041	retina development in camera-type eye	IMP	biological process
GO:0060123	regulation of growth hormone secretion	IMP	biological process
GO:0060173	limb development	IMP	biological process
GO:0060324	face development	IMP	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0001501	skeletal system development	IMP	biological process
GO:0001701	in utero embryonic development	IMP	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0003682	chromatin binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0007417	central nervous system development	IMP	biological process
GO:0021545	cranial nerve development	IMP	biological process
GO:0030217	T cell differentiation	IMP	biological process
GO:0042472	inner ear morphogenesis	IMP	biological process
GO:0043584	nose development	IMP	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0060021	palate development	IMP	biological process
GO:0060041	retina development in camera-type eye	IMP	biological process
GO:0060123	regulation of growth hormone secretion	IMP	biological process
GO:0060173	limb development	IMP	biological process
GO:0060324	face development	IMP	biological process

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 19065520
Heart disease	GAD: 19065520
CHARGE syndrome	GAD: 16155193
Cleft defects	GAD: 16763960
Cleft defects	GAD: 16763960
Scoliosis	GAD: 17436250
Kallmann syndrome (KS)	GAD: 19021638
Hypogonadotropic hypogonadism	MIK: 18834967
Hypogonadotropic hypogonadism	OMIM: 608892, KEGG: H00255
Cryptorchidism	MIK: 28606200
Cryptorchidism, Male infertility	MIK: 27561106
Hypospadias	MIK: 31219235
Kallmann syndrome	MIK: 18834967
Idiopathic hypogonadotropic hypogonadism	MIK: 18834967

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18834967	Idiopathic hypogonadotropic hypogonadism, Kallmann syndrome			281 (101 IHH/KS patients, 180 controls)	Male infertility
27561106	Cryptorchidism, Male infertility			15 (7 high fertility risk, 8 low fertility risk )	Male infertility
31219235	Hypospadias	c.C2189T(p.T730I)	Chinese	136 cases	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq