CHD7

Protein identityUniProt · HPA

UniProt accession

Q9P2D1

Gene

CHD7

Ensembl

ENSG00000171316

Chromosome

8

Canonical length

2997 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI Gene

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 RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

2997 residues, UniProt reviewed canonical sequence.

>Q9P2D1|CHD7
     1  MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN
    61  QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG
   121  GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ
   181  GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ
   241  QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP
   301  SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG
   361  LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI
   421  PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC
   481  PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL
   541  HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK
   601  KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK
   661  EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE
   721  GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR
   781  DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW
   841  ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP
   901  VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR
   961  EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL
  1021  VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI
  1081  ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT
  1141  VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP
  1201  KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING
  1261  AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD
  1321  ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT
  1381  CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ
  1441  SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI
  1501  ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK
  1561  QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR
  1621  WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV
  1681  NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL
  1741  RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK
  1801  HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT
  1861  RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY
  1921  QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST
  1981  FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS
  2041  SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL
  2101  LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA
  2161  HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG
  2221  VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR
  2281  DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF
  2341  DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR
  2401  RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS
  2461  LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE
  2521  GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL
  2581  VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT
  2641  LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF
  2701  DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN
  2761  LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL
  2821  SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP
  2881  AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD
  2941  KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHD7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHD7.

Disease | AllUniProt

Conditions CHD7 is implicated in, by any mechanism.

• CHARGE syndrome (CHARGES) MIM:214800
• Idiopathic scoliosis 3 (IS3) MIM:608765
• Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) MIM:612370

Disease | GeneticClinVar

854 pathogenic / likely-pathogenic of 4,487 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• CHARGE syndrome
• CHD7-related CHARGE syndrome
• Inborn genetic diseases
• CHD7-related disorder
• Hypogonadotropic hypogonadism 5 with or without anosmia

Disease | ImmuneIEDB

Conditions an epitope on CHD7 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell
• glioblastoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.08

gnomAD pLI

1

gnomAD missense Z

3.22

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult heart development
• adult walking behavior
• aorta morphogenesis
• atrioventricular canal development
• blood circulation
• blood vessel remodeling
• cardiac septum morphogenesis
• central nervous system development
• chordate embryonic development
• chromatin remodeling
• cognition
• cranial nerve development
• embryonic hindlimb morphogenesis
• epithelium development
• face development
• female genitalia development
• genitalia development
• heart morphogenesis
• in utero embryonic development
• inner ear morphogenesis
• innervation
• limb development
• nose development
• olfactory behavior
• olfactory bulb development
• olfactory nerve development
• positive regulation of multicellular organism growth
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of gene expression
• regulation of growth hormone secretion
• regulation of neurogenesis
• regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
• response to bacterium
• retina development in camera-type eye
• rRNA processing
• secondary palate development
• semicircular canal morphogenesis
• sensory perception of sound
• skeletal system development
• T cell differentiation
• transcription by RNA polymerase II
• ventricular trabecula myocardium morphogenesis
• right ventricular compact myocardium morphogenesis

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATP-dependent chromatin remodeler activity
• chromatin binding
• DNA binding
• histone binding
• promoter-specific chromatin binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• SNF2, N-terminal domain
• Chromo/chromo shadow domain
• Helicase, C-terminal domain-like
• BRK domain
• Helicase superfamily 1/2, ATP-binding domain
• Chromo-like domain superfamily
• Chromo domain
• P-loop containing nucleoside triphosphate hydrolase
• BRK domain superfamily
• SNF2-like, N-terminal domain superfamily
• SNF2/RAD5-like, C-terminal helicase domain
• Chromodomain-helicase-DNA-binding
• Chromodomain-helicase-DNA-binding protein 6-9, tri-helical domain
• SNF2-related domain
• Helicase conserved C-terminal domain
• Chromo (CHRromatin Organisation MOdifier) domain
• BRK domain
• Chromodomain-helicase-DNA-binding protein 6-9, tri-helical

KeywordsUniProt

• ATP-binding
• Chromatin regulator
• Coiled coil
• DNA-binding
• Hydrolase
• Hypogonadotropic hypogonadism
• Kallmann syndrome
• Methylation
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Repeat
• rRNA processing
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of CHD7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CHD8
• FAM124B
• TLK2
• PARP1
• SMARCC2