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    Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 14004, updated on 9-Dec-2024

    Summary

    Official Symbol
    Chchd2provided by MGI
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 2provided by MGI
    Primary source
    MGI:MGI:1261428
    See related
    Ensembl:ENSMUSG00000070493 AllianceGenome:MGI:1261428
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Etohi6
    Summary
    Predicted to enable DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Predicted to be involved in mitochondrion organization; positive regulation of transcription by RNA polymerase II; and regulation of cellular response to hypoxia. Located in mitochondrion. Is expressed in several structures, including cerebral cortex; diaphragm; gonad; head mesenchyme; and vertebral axis musculature. Human ortholog(s) of this gene implicated in Parkinson's disease 22. Orthologous to several human genes including CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 1404.4), duodenum adult (RPKM 1158.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Chchd2 in Genome Data Viewer
    Location:
    5 G1.3; 5 68.26 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (129910002..129916311, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (129881161..129887470, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6A Neighboring gene STARR-positive B cell enhancer ABC_E3624 Neighboring gene small nucleolar RNA, H/ACA box 15 Neighboring gene sulfatase modifying factor 2 Neighboring gene phosphorylase kinase gamma 1 Neighboring gene STARR-positive B cell enhancer ABC_E125 Neighboring gene STARR-positive B cell enhancer ABC_E2766 Neighboring gene zinc finger BED-type containing 5 Neighboring gene nuclear protein transcriptional regulator 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC103085

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitochondrial ATP synthesis coupled electron transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cellular response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 2
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial
    ethanol induced 6
    NP_077128.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024166.6NP_077128.2  coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_077128.2

      Status: PROVISIONAL

      Source sequence(s)
      AC164071, AC242408
      Consensus CDS
      CCDS19702.1
      UniProtKB/Swiss-Prot
      Q3TUG8, Q9D1L0
      Related
      ENSMUSP00000091835.4, ENSMUST00000094280.4

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      129910002..129916311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)