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FLASH GENE
Symbol CHCHD2 contributors: mct - updated : 08-11-2017
HGNC name coiled-coil-helix-coiled-coil-helix domain containing 2
HGNC id 21645
Corresponding disease
PARK22 Parkinson disease 22
Location 7p11.2      Physical location : 56.169.267 - 56.174.187
Synonym name
  • chromosome 7 open reading frame 17
  • 16.7kD protein
  • HCV NS2 trans-regulated protein
  • Mitochondrial Nuclear Retrograde Regulator 1
  • aging-associated gene 10 protein
  • Synonym symbol(s) C7orf17, MNRR1, NS2TP, PARK22
    EC.number 2.3.1.15
    DNA
    TYPE functioning gene
    STRUCTURE 5.07 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 966 - 151 - -
    4 - 970 - 168 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text trophoblast
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    coiled-coil-helix-coiled-coil-helix domain
    HOMOLOGY
    interspecies homolog to murine Chchd2
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,nucleus
    text
  • in normally growing cells most CHCHD2 is located in mitochondria; during stress most CHCHD21 is now located in the nucleus
  • basic FUNCTION
  • CHCHD2, a previously uncharacterized small mitochondrial protein with no known homology to the BCL2 family, is one of the negative regulators of mitochondria-mediated apoptosis
  • its expression seems to correlate with neuroectodermal differentiation potential of pluripotent stem cells
  • functions in two subcellular compartments, displaying a different function in each
  • in the mitochondria it is a stress regulator of respiration that binds to cytochrome c oxidase (COX) whereas in the nucleus it is a transactivator of COX4I2 and other hypoxia-stimulated genes
  • has the unusual property of functioning in both the mitochondria and the nucleus and of having a different function in each
  • is a biorganellar regulator of mitochondria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CHCHD2 protein directly interacted with hyaluronic acid-binding protein 1 (C1QBP) that possessed migration-suppressing activity
  • acts as a transcription factor, one of whose targets is the COX subunit 4 isoform, COX4I2, which is transcriptionally stimulated by hypoxia
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PARK22
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS