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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
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:91441258-91450405 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr6:91439154-91450528 (-)
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
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHCHD4, coiled-coil-helix-coiled-coil-helix domain containing 4
  • Synonyms
    MIA40, TIMM40
  • Links
    NCBI Gene ID: 131474
    neXtProt AC: NX_Q8N4Q1
    UniProt: Q8N4Q1

  • Chr Location
    3p25.1; chr3:14112077-14124870 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    15 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.
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
    28
  • GO References
    7
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
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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
    775
  • Tissues
    8
  • cDNA Data
    60
  • Literature Summary
    1
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
    (term hierarchy)
  • InterPro Domains
    IPR010625 CHCH
    IPR039289 Mitochondrial intermembrane space import and assembly protein 40
Molecular
Reagents
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  • All nucleic 61
    cDNA 60
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1916994, MGI:2141479
References
more
  • Summaries
    All 43
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 15
  • 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:344404 Ma J, et al., CHCHD4-TRIAP1 regulation of innate immune signaling mediates skeletal muscle adaptation to exercise. Cell Rep. 2023 Dec 28;43(1):113626
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