ZFIN ID: ZDB-GENE-070912-179
Gene Name: chromodomain helicase DNA binding protein 7
Gene Symbol: chd7    Nomenclature History

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Previous Names: si:ch211-197o6.2 (1), wu:cegs2051 (1), wu:fb37f10 (1), wu:fb39h04 (1), wu:fd19h06 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have ATP binding activity and hydrolase activity, acting on acid anhydrides. Involved in several processes, including animal organ development; nervous system development; and rRNA transcription. Predicted to localize to the nucleus. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome; hypogonadotropic hypogonadism 5 with or without anosmia; and idiopathic scoliosis. Is expressed in several structures, including central nervous system; digestive system; gonad; musculature system; and somite. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7).
Genome Resources: Alliance (1),  Gene:569471 (1),  Ensembl(GRCz11):ENSDARG00000075211 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ck004a Small Deletion Exon 2 Unknown ZINC_FINGER_NUCLEASE
hsi3 Small Deletion Exon 2 Frameshift CRISPR
la011094Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la014852Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la023507Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la023508Tg Transgenic Insertion Unknown Unknown DNA
    la028757Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa596 Point Mutation Unknown Premature Stop ENU
    sa6835 Point Mutation Unknown Splice Site ENU
    sa11593 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19732 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19733 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32898 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32899 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39811 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44529 Point Mutation Unknown Unknown ENU
    sa44530 Point Mutation Unknown Unknown ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-chd7
    1
    CRISPR2-chd7
    1
    CRISPR3-chd7 2
    MO1-chd7 N/A 3
    MO2-chd7 N/A 4
    MO3-chd7 N/A 3
    MO4-chd7 N/A 1
    MO5-chd7 N/A 2
    MO6-chd7 N/A 1
    MO7-chd7 N/A 1
    MO8-chd7 N/A 1
    PHENOTYPE
    Data: 48 figures from 8 publications
    Observed in:
    DISEASE ASSOCIATED WITH chd7 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    CHARGE syndrome Alliance CHARGE syndrome 214800
    hypogonadotropic hypogonadism 5 with or without anosmia Alliance Hypogonadotropic hypogonadism 5 with or without anosmia 612370
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cranial skeletal system development (more)
    Cellular Component nucleus (more)
    Molecular Function ATP binding (more)
    GO Terms (all 30)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000330 SNF2-related, N-terminal domain
    Domain IPR000953 Chromo/chromo shadow domain
    Domain IPR001650 Helicase, C-terminal
    Domain IPR006576 BRK domain
    Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
    Homologous_superfamily IPR016197 Chromo-like domain superfamily
    Domain IPR023780 Chromo domain
    Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Homologous_superfamily IPR037259 BRK domain superfamily
    Homologous_superfamily IPR038718 SNF2-like, N-terminal domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA chd7-202 (1)    Ensembl 515
    chd7-203 (1)    Ensembl 10963
    ncRNA chd7-003 (1)    Ensembl 494
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-chd7 polyclonal IgG Rabbit Santa Cruz Biotechnology, Inc.
    2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM chd7 No data available
    MARKER RELATIONSHIPS
    chd7 Contained in: [BAC] CH211-197O6 (1)
    chd7 Encodes: [EST] cegs2051 (1) (order this), fb37f10, fb39h04, fd19h06
    chd7 Has Artifact: [EST] fc87d04
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_692864 (1) 10825 bp
    Genomic GenBank:CR450710 (1) 201624 bp Blast at MegaBLAST
    Polypeptide UniProtKB:F1QGL1 (1) 3140 aa
    Sequence Clusters UniGene:116391 (1)
    Sequence Information (all 53)
    ORTHOLOGY for chd7 ( Chr: 2 )
    CITATIONS (34)