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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
  • Alliance
    gene page
  • Transcription Start Sites
    37 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:8690406-8867659 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr4:8690345-8868449 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHD7, chromodomain helicase DNA binding protein 7
  • Synonyms
    CRG, HH5, IS3, KAL5
  • Links
    NCBI Gene ID: 55636
    neXtProt AC: NX_Q9P2D1
    UniProt: Q9P2D1

  • Chr Location
    8q12.2; chr8:60678740-60868028 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Chd7 mouse models; 2 with human CHD7 associations

Human Disease Mouse Models
      
IDs
 View 20 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    16 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    359 phenotypes from 22 alleles in 50 genetic backgrounds
    42 phenotypes from multigenic genotypes
    10 images
    72 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.
Heterozygotes for mutations of this gene show a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, tail-kink and reproductive system anomalies. Heterozygotes for a null allele show mild cerebellar hypoplasia and distinct cerebellar foliation anomalies.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    89
  • GO References
    14
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    1144
  • Tissues
    215
  • cDNA Data
    18
  • Literature Summary
    39
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 28
      cDNA 18
      Primer pair 8
      Other 2

      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 113
      Developmental Gene Expression 39
      Diseases 16
      Gene Ontology 14
      Phenotypes 72
    • 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:338018 Stathopoulou A, et al., CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression. Cardiovasc Res. 2023 Apr 13;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory