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    CHD7 chromodomain helicase DNA binding protein 7 [ Homo sapiens (human) ]

    Gene ID: 55636, updated on 13-May-2017
    Official Symbol
    CHD7provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 7provided by HGNC
    Primary source
    HGNC:HGNC:20626
    See related
    Ensembl:ENSG00000171316 MIM:608892; Vega:OTTHUMG00000165332
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRG; HH5; IS3; KAL5
    Summary
    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]
    Orthologs
    Location:
    8q12.2
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (60678744..60868028)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61591321..61780587)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375865 Neighboring gene RAB2A, member RAS oncogene family Neighboring gene translation initiation factor IF-2-like Neighboring gene interferon induced transmembrane protein pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    NHGRI GWA Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20357, FLJ20361, KIAA1416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adult heart development IEA
    Inferred from Electronic Annotation
    more info
     
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    atrioventricular canal development IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    cranial nerve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    face development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    innervation IEA
    Inferred from Electronic Annotation
    more info
     
    limb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nose development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    olfactory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
     
    olfactory nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of growth hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    right ventricular compact myocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    semicircular canal morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular trabecula myocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    chromodomain-helicase-DNA-binding protein 7
    Names
    ATP-dependent helicase CHD7
    CHARGE association
    chromodomain helicase DNA binding protein 7 isoform CRA_e
    NP_001303619.1
    NP_060250.2
    XP_011515855.1
    XP_011515856.1
    XP_011515857.1
    XP_011515862.1
    XP_016869101.1
    XP_016869102.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007009.1 RefSeqGene

      Range
      4986..194249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_176

    mRNA and Protein(s)

    1. NM_001316690.1NP_001303619.1  chromodomain-helicase-DNA-binding protein 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as CRA_e) lacks most of the internal exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is significantly shorter compared to isoform 1. This isoform, described in PMID:20925924, may negatively regulate the activity of isoform 1.
      Source sequence(s)
      AC113143, BC068000, BI039198, GU060498, W78145
      Consensus CDS
      CCDS83299.1
      UniProtKB/Swiss-Prot
      Q9P2D1
      Related
      ENSP00000437061.1, OTTHUMP00000229378, ENST00000524602.5, OTTHUMT00000383470
      Conserved Domains (1) summary
      smart00592
      Location:593637
      BRK; domain in transcription and CHROMO domain helicases
    2. NM_017780.3NP_060250.2  chromodomain-helicase-DNA-binding protein 7 isoform 1

      See identical proteins and their annotated locations for NP_060250.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB037837, AC023102, AC113143, AK123158, BC033116, BC051264, BC068000, BI039198, W78145
      Consensus CDS
      CCDS47865.1
      UniProtKB/Swiss-Prot
      Q9P2D1
      UniProtKB/TrEMBL
      Q6ZWF9
      Related
      ENSP00000392028.1, OTTHUMP00000229376, ENST00000423902.6, OTTHUMT00000383468
      Conserved Domains (9) summary
      smart00592
      Location:26422686
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25642604
      BRK; BRK domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      60678744..60868028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517553.2XP_011515855.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011515855.1

      Conserved Domains (9) summary
      smart00592
      Location:26722716
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25942634
      BRK; BRK domain
    2. XM_011517555.2XP_011515857.1  chromodomain-helicase-DNA-binding protein 7 isoform X2

      Conserved Domains (9) summary
      smart00592
      Location:26712715
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25932633
      BRK; BRK domain
    3. XM_017013613.1XP_016869102.1  chromodomain-helicase-DNA-binding protein 7 isoform X3

      Conserved Domains (9) summary
      smart00592
      Location:26412685
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25632603
      BRK; BRK domain
    4. XM_011517560.2XP_011515862.1  chromodomain-helicase-DNA-binding protein 7 isoform X4

      Conserved Domains (7) summary
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:187576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
    5. XM_011517554.2XP_011515856.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011515856.1

      Conserved Domains (9) summary
      smart00592
      Location:26722716
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25942634
      BRK; BRK domain
    6. XM_017013612.1XP_016869101.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

      Conserved Domains (9) summary
      smart00592
      Location:26722716
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:801862
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:9871136
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam08430
      Location:306423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:202576
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9711258
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12901404
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:883935
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25942634
      BRK; BRK domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      61643239..61832394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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