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Chd8 Gene Detail
Summary
  • Symbol
    Chd8
  • Name
    chromodomain helicase DNA binding protein 8
  • Synonyms
    5830451P18Rik, Duplin, mKIAA1564
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915022
    NCBI Gene: 67772
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:52435608-52495237 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 26.84 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    370 from dbSNP Build 142
  • Strain Annotations
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915022
 protein coding gene Chr14:52435608-52495499 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021293
 protein coding gene Chr14:46230442-46290743 (-)
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0021693
 protein coding gene Chr14:48282531-48350064 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019237
 protein coding gene Chr14:44218684-44279667 (-)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J MGP_DBA2J_G0021122
 protein coding gene Chr14:44789640-44849264 (-)
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    CHD8, chromodomain helicase DNA binding protein 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHD8, chromodomain helicase DNA binding protein 8
  • Synonyms
    AUTS18, HELSNF1, IDDAM
  • Links
    NCBI Gene ID: 57680
    neXtProt AC: NX_Q9HCK8
    UniProt: Q9HCK8

  • Chr Location
    14q11.2; chr14:21385194-21456126 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Chd8 mouse models

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    32 phenotypes from 4 alleles in 5 genetic backgrounds
    42 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.
Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    78
  • 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
    1296
  • Tissues
    222
  • cDNA Data
    18
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000053754 Ensembl Gene Model | MGI Sequence Detail 59630 C57BL/6J ±  kb
    transcript ENSMUST00000089752 Ensembl | MGI Sequence Detail 8190 Not Applicable  
    polypeptide ENSMUSP00000087184 Ensembl | MGI Sequence Detail 2582 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 1
      cDNA 21
      Primer pair 7
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2145721, MGI:3510543
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 21
      Diseases 2
      Gene Ontology 14
      Phenotypes 42
    • Earliest
      J:28401 Bettenhausen B, et al., Efficient isolation of novel mouse genes differentially expressed in early postimplantation embryos. Genomics. 1995 Aug 10;28(3):436-41
    • Latest
      J:345423 Shi X, et al., Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction. Am J Hum Genet. 2023 Oct 5;110(10):1750-1768
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory