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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
  • Gene Overview
    MyGene.info: CHD8
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:52198151-52257723 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59573 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 26.84 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CHD8, chromodomain helicase DNA binding protein 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CHD8, chromodomain helicase DNA binding protein 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AUTS18, HELSNF1
  • Links
    NCBI Gene ID: 57680
    neXtProt AC: NX_Q9HCK8
    UniProt: Q9HCK8

  • Chr Location
    14q11.2; chr14:21385194-21437298 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 72405
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CHD8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human CHD8 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    14 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
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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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023392 VEGA Gene Model | MGI Sequence Detail 59573 C57BL/6J ±  kb
    transcript OTTMUST00000056789 VEGA | MGI Sequence Detail 8452 Not Applicable  
    polypeptide OTTMUSP00000027337 VEGA | MGI Sequence Detail 2582 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      370 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 1
      cDNA 20
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2145721, MGI:3510543
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 10
      Gene Ontology 9
      Phenotypes 14
    • 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:261980 Suetterlin P, et al., Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice. Cereb Cortex. 2018 Jun 1;28(6):2192-2206

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory