About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:8690406-8867659 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 3.68 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    975 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444748
protein coding gene Chr4:8690406-8868449 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028040
protein coding gene Chr4:5274100-5457337 (+)
A/J MGP_AJ_G0027998
protein coding gene Chr4:5164481-5345051 (+)
AKR/J MGP_AKRJ_G0027964
protein coding gene Chr4:5207076-5387587 (+)
BALB/cJ MGP_BALBcJ_G0028010
protein coding gene Chr4:5150351-5328217 (+)
C3H/HeJ MGP_C3HHeJ_G0027740
protein coding gene Chr4:5375729-5559400 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028453
protein coding gene Chr4:5572377-5757166 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025797
protein coding gene Chr4:4856621-5033485 (+)
CAST/EiJ MGP_CASTEiJ_G0027194
protein coding gene Chr4:5211917-5394660 (+)
CBA/J MGP_CBAJ_G0027715
protein coding gene Chr4:5650822-5838013 (+)
DBA/2J MGP_DBA2J_G0027855
protein coding gene Chr4:5134271-5311757 (+)
FVB/NJ MGP_FVBNJ_G0027822
protein coding gene Chr4:5003214-5183734 (+)
LP/J MGP_LPJ_G0027966
protein coding gene Chr4:5285992-5469312 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027855
protein coding gene Chr4:5887680-6072916 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028512
protein coding gene Chr4:5202648-5384159 (+)
PWK/PhJ MGP_PWKPhJ_G0026915
protein coding gene Chr4:5134183-5316046 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026745
protein coding gene Chr4:5154346-5334205 (+)
WSB/EiJ MGP_WSBEiJ_G0027273
protein coding gene Chr4:5297957-5498628 (+)



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
    UniProt: Q9P2D1

  • Chr Location
    8q12.2; chr8:60678744-60868028 (+)  GRCh38.p7

  • 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; 2 with human CHD7 associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
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
less
  • Phenotype Summary
    154 phenotypes from 17 alleles in 23 genetic backgrounds
    9 phenotypes from multigenic genotypes
    10 images
    48 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041235 Ensembl Gene Model | MGI Sequence Detail 177254 C57BL/6J ±  kb
    transcript ENSMUST00000051558 Ensembl | MGI Sequence Detail 10216 Not Applicable  
    polypeptide ENSMUSP00000059079 Ensembl | MGI Sequence Detail 2986 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 18
      Primer pair 6
      Other 1

      Microarray probesets 35
    Other
    Accession IDs
    less
    MGI:1861982, MGI:1861985, MGI:1861987, MGI:1861988, MGI:1862038, MGI:1890591, MGI:1890592, MGI:2662565, MGI:2662566
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 26
      Diseases 5
      Gene Ontology 12
      Phenotypes 48
    • 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:264451 Marie C, et al., Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8. Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):E8246-E8255

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory