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Chd7 Gene Detail
Summary
  • Symbol
    Chd7
  • Name
    chromodomain helicase DNA binding protein 7
  • Synonyms
    A730019I05Rik, Cycn, Cyn, Dz, Edy, Flo, GENA 47, Gena 52, GENA 60, Lda, Mt, Obt, Todo, WBE1, Whi
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444748
    NCBI Gene: 320790
  • Gene Overview
    MyGene.info: CHD7
Location & Maps
more
  • Sequence Map
    Chr4:8690406-8867659 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      177254 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 3.68 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    CHD7, chromodomain helicase DNA binding protein 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CHD7, chromodomain helicase DNA binding protein 7
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CRG, HH5, IS3, KAL5
  • Links
    NCBI Gene ID: 55636
    neXtProt AC: NX_Q9P2D1

  • Chr Location
    8q12.2; chr8:60678762-60868028 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 19067
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CHD7
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Chd7 mouse models; 3 with human CHD7 associations

Human Disease Mouse Models
       CHARGE Syndrome   OMIM: 214800 View 8 models
       Hypogonadotropic Hypogonadism 5 with or without Anosmia; HH5   OMIM: 612370
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    150 phenotypes from 17 alleles in 23 genetic backgrounds
    8 phenotypes from multigenic genotypes
    6 images
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    48
  • Chemically induced (ENU)
    10
  • Gene trapped
    29
  • Spontaneous
    1
  • Targeted
    8
  • Incidental Mutations
Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004417 VEGA Gene Model | MGI Sequence Detail 177254 C57BL/6J ±  kb
transcript OTTMUST00000010005 VEGA | MGI Sequence Detail 10216 Not Applicable  
polypeptide OTTMUSP00000004792 VEGA | MGI Sequence Detail 2986 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    975 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 12
    Primer pair 3
    Other 1

    Microarray probesets 35
Other
Accession IDs
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MGI:1861982, MGI:1861985, MGI:1861987, MGI:1861988, MGI:1862038, MGI:1890591, MGI:1890592, MGI:2662565, MGI:2662566
References
more
  • Summaries
    All 67
    Developmental Gene Expression 23
    Diseases 5
    Gene Ontology 11
    Phenotypes 40
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:234565 He D, et al., Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nat Neurosci. 2016 May;19(5):678-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory