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Chchd2 Gene Detail
Summary
  • Symbol
    Chchd2
  • Name
    coiled-coil-helix-coiled-coil-helix domain containing 2
  • Synonyms
    Etohi6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1261428
    NCBI Gene: 14004
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:129910002-129916311 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 68.26 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    113 from dbSNP Build 142
  • Strain Annotations
    9
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1261428
 protein coding gene Chr5:129909997-129916311 (-)
129S1/SvImJ no annotation
A/J MGP_AJ_G0030102
 protein coding gene Chr5:128325854-128333411 (-)
AKR/J no annotation
BALB/cJ MGP_BALBcJ_G0030111
 protein coding gene Chr5:129676859-129683060 (-)
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0030564
 protein coding gene Chr5:139098737-139108835 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027789
 protein coding gene Chr5:122712864-122719994 (-)
CAST/EiJ MGP_CASTEiJ_G0029237
 protein coding gene Chr5:132361043-132370405 (-)
CBA/J no annotation
DBA/2J MGP_DBA2J_G0029948
 protein coding gene Chr5:128288894-128297249 (-)
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0029935
 protein coding gene Chr5:147862024-147878390 (-)
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0028951
 protein coding gene Chr5:127223076-127227855 (-)
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    CHCHD2, coiled-coil-helix-coiled-coil-helix domain containing 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHCHD2, coiled-coil-helix-coiled-coil-helix domain containing 2
  • Synonyms
    C7orf17, MIX17B, MNRR1, NS2TP, PARK22
  • Links
    NCBI Gene ID: 51142
    neXtProt AC: NX_Q9Y6H1
    UniProt: Q9Y6H1

  • Chr Location
    7p11.2; chr7:56101573-56106476 (-)  GRCh38
  • Human Ortholog
    CHCHD2P9, coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9
  • Synonyms
    C9orf49, CHCHD9
  • Links
    NCBI Gene ID: 645345

  • Chr Location
    9q21.31; chr9:79391267-79392035 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CHCHD2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 2 alleles in 3 genetic backgrounds
    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.
Homozygous knockout affects autophagy and mitochondrial morphology and promotes Lewy body formation in the brain, resulting in impaired motor coordination in old mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    6
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
    775
  • Tissues
    7
  • cDNA Data
    16
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14004 NCBI Gene Model | MGI Sequence Detail 6310 C57BL/6J ±  kb
    transcript NM_024166 RefSeq | MGI Sequence Detail 910 C57BL/6  
    polypeptide Q9D1L0 UniProt | EBI | MGI Sequence Detail 153 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 16
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140417
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:344465 Shammas MK, et al., OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy. J Clin Invest. 2022 Jul 15;132(14):e157504
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory