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Chchd4 Gene Detail
Summary
  • Symbol
    Chchd4
  • Name
    coiled-coil-helix-coiled-coil-helix domain containing 4
  • Synonyms
    2410012P20Rik, 2810014D17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919420
    NCBI Gene: 72170
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:91464276-91473423 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 40.53 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    163 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919420
protein coding gene Chr6:91462172-91473546 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031046
protein coding gene Chr6:93062010-93073357 (-)
A/J MGP_AJ_G0031015
protein coding gene Chr6:89514690-89526219 (-)
AKR/J MGP_AKRJ_G0030946
protein coding gene Chr6:92002374-92013740 (-)
BALB/cJ MGP_BALBcJ_G0031026
protein coding gene Chr6:89455747-89467242 (-)
C3H/HeJ MGP_C3HHeJ_G0030682
protein coding gene Chr6:92431021-92442403 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031485
protein coding gene Chr6:95479889-95491229 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028653
protein coding gene Chr6:87507445-87509325 (-)
CAST/EiJ MGP_CASTEiJ_G0030133
protein coding gene Chr6:92122354-92124199 (-)
CBA/J MGP_CBAJ_G0030712
protein coding gene Chr6:99032759-99044127 (-)
DBA/2J MGP_DBA2J_G0030865
protein coding gene Chr6:88697375-88708670 (-)
FVB/NJ MGP_FVBNJ_G0030819
protein coding gene Chr6:87906168-87917541 (-)
LP/J MGP_LPJ_G0030945
protein coding gene Chr6:93015158-93028222 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030853
protein coding gene Chr6:103084606-103097950 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031512
protein coding gene Chr6:91840148-91851535 (-)
PWK/PhJ MGP_PWKPhJ_G0029849
protein coding gene Chr6:87650174-87661657 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029678
protein coding gene Chr6:90754742-90766318 (-)
WSB/EiJ MGP_WSBEiJ_G0030217
protein coding gene Chr6:92313519-92325887 (-)



Homology
more
  • Human Ortholog
    CHCHD4, coiled-coil-helix-coiled-coil-helix domain containing 4
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CHCHD4, coiled-coil-helix-coiled-coil-helix domain containing 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MIA40, TIMM40
  • Links
    NCBI Gene ID: 131474
    neXtProt AC: NX_Q8N4Q1
    UniProt: Q8N4Q1

  • Chr Location
    3p25.1; chr3:14112077-14124871 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 14846
    1 human;1 mouse;2 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CHCHD4
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    13 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.
Embryos homozygous for a knock-out allele exhibit respiratory electron transport chain defects, growth retardation, and complete embryonic lethality. Heterozygotes are viable and overtly normal but show decreased susceptibility to diet-induced obesity.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
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  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 72170 NCBI Gene Model | MGI Sequence Detail 9148 C57BL/6J ±  kb
transcript NM_133928 RefSeq | MGI Sequence Detail 1245 C57BL/6  
polypeptide Q8VEA4 UniProt | EBI | MGI Sequence Detail 139 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000005405 mitochondrial intermembrane space import and assembly protein 40
  • InterPro Domains
    IPR039289 Mitochondrial intermembrane space import and assembly protein 40
Molecular
Reagents
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  • All nucleic 60
    cDNA 60

    Microarray probesets 5
Other
Accession IDs
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MGI:1916994, MGI:2141479
References
more
  • Summaries
    All 41
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:237787 Liu X, et al., Decreased expression levels of Ifi genes is associated to the increased resistance to spontaneous arthritis disease in mice deficiency of IL-1RA. BMC Immunol. 2016 Aug 02;17(1):25

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
03/13/2019
MGI 6.13
The Jackson Laboratory