Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHCHD2 Gene

Aliases for CHCHD2 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 2 3 5
  • Aging-Associated Gene 10 Protein 3 4
  • HCV NS2 Trans-Regulated Protein 3 4
  • C7orf17 3 4
  • NS2TP 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial 3
  • Mitochondria Nuclear Retrograde Regulator 1 3
  • Chromosome 7 Open Reading Frame 17 2
  • 16.7kD Protein 3
  • PARK22 3
  • MNRR1 3

External Ids for CHCHD2 Gene

Previous HGNC Symbols for CHCHD2 Gene

  • C7orf17

Previous GeneCards Identifiers for CHCHD2 Gene

  • GC07M055911
  • GC07M055943
  • GC07M056136
  • GC07M055983
  • GC07M056171

Summaries for CHCHD2 Gene

Entrez Gene Summary for CHCHD2 Gene

  • The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for CHCHD2 Gene

CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Transport to the Golgi and subsequent modification. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is CHCHD10.

UniProtKB/Swiss-Prot for CHCHD2 Gene

  • Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD2 Gene

Genomics for CHCHD2 Gene

Regulatory Elements for CHCHD2 Gene

Enhancers for CHCHD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHCHD2 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHCHD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD2 Gene

Chromosome:
7
Start:
56,101,569 bp from pter
End:
56,106,576 bp from pter
Size:
5,008 bases
Orientation:
Minus strand

Genomic View for CHCHD2 Gene

Genes around CHCHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD2 Gene

Proteins for CHCHD2 Gene

  • Protein details for CHCHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6H1-CHCH2_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
    Protein Accession:
    Q9Y6H1
    Secondary Accessions:
    • Q498C3
    • Q6NZ50

    Protein attributes for CHCHD2 Gene

    Size:
    151 amino acids
    Molecular mass:
    15513 Da
    Quaternary structure:
    • Interacts with RBPJ.

neXtProt entry for CHCHD2 Gene

Proteomics data for CHCHD2 Gene at MOPED

Post-translational modifications for CHCHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHCHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHCHD2 Gene

Domains & Families for CHCHD2 Gene

Protein Domains for CHCHD2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6H1

UniProtKB/Swiss-Prot:

CHCH2_HUMAN :
  • Contains 1 CHCH domain.
Domain:
  • Contains 1 CHCH domain.
genes like me logo Genes that share domains with CHCHD2: view

Function for CHCHD2 Gene

Molecular function for CHCHD2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia (4% oxygen) (at protein level).

Gene Ontology (GO) - Molecular Function for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008134 transcription factor binding IPI 23303788
genes like me logo Genes that share ontologies with CHCHD2: view
genes like me logo Genes that share phenotypes with CHCHD2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHCHD2 Gene

Localization for CHCHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD2 Gene COMPARTMENTS Subcellular localization image for CHCHD2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CHCHD2 Gene

Pathways & Interactions for CHCHD2 Gene

genes like me logo Genes that share pathways with CHCHD2: view

Pathways by source for CHCHD2 Gene

2 Reactome pathways for CHCHD2 Gene

Gene Ontology (GO) - Biological Process for CHCHD2 Gene

None

No data available for SIGNOR curated interactions for CHCHD2 Gene

Drugs & Compounds for CHCHD2 Gene

No Compound Related Data Available

Transcripts for CHCHD2 Gene

mRNA/cDNA for CHCHD2 Gene

Unigene Clusters for CHCHD2 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD2 Gene

No ASD Table

Relevant External Links for CHCHD2 Gene

GeneLoc Exon Structure for
CHCHD2
ECgene alternative splicing isoforms for
CHCHD2

Expression for CHCHD2 Gene

mRNA expression in normal human tissues for CHCHD2 Gene

Protein differential expression in normal tissues from HIPED for CHCHD2 Gene

This gene is overexpressed in Bone marrow stromal cell (17.5) and Retina (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHCHD2 Gene



SOURCE GeneReport for Unigene cluster for CHCHD2 Gene Hs.389996

genes like me logo Genes that share expression patterns with CHCHD2: view

Protein tissue co-expression partners for CHCHD2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHCHD2 Gene

Orthologs for CHCHD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHCHD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHCHD2 35
  • 86.98 (n)
  • 92.05 (a)
CHCHD9 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD2 35
  • 89.11 (n)
  • 91.33 (a)
CHCHD2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd2 35
  • 83.11 (n)
  • 86.67 (a)
Gm13202 16
Chchd2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD2 35
  • 99.78 (n)
  • 100 (a)
CHCHD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd2 35
  • 83.11 (n)
  • 83.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CHCHD2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD2 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD2 35
  • 75.66 (n)
  • 77.78 (a)
CHCHD2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agpat9 35
  • 69.56 (n)
  • 78 (a)
zebrafish
(Danio rerio)
Actinopterygii chchd2 35
  • 65.78 (n)
  • 66.89 (a)
zgc73266 35
chchd2 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10376 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000897 35
  • 56.08 (n)
  • 54.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5010 35
  • 61.22 (n)
  • 54.08 (a)
CG31007 36
  • 29 (a)
ManyToMany
CG31008 36
  • 32 (a)
ManyToMany
CG5010 36
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea har-1 36
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIC17 36
  • 35 (a)
OneToMany
Species with no ortholog for CHCHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHCHD2 Gene

ENSEMBL:
Gene Tree for CHCHD2 (if available)
TreeFam:
Gene Tree for CHCHD2 (if available)

Paralogs for CHCHD2 Gene

Paralogs for CHCHD2 Gene

(2) SIMAP similar genes for CHCHD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHCHD2: view

Variants for CHCHD2 Gene

Sequence variations from dbSNP and Humsavar for CHCHD2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs11546418 - 56,104,294(-) TGGGT(A/C)ACGCC reference, missense
rs816406 -- 56,106,478(-) TCTCC(G/T)CAGAA utr-variant-5-prime
rs816407 -- 56,106,447(-) TTGTC(A/C/G)CACGT utr-variant-5-prime
rs816408 -- 56,106,277(-) GGGGG(C/T)GAACT intron-variant
rs816409 -- 56,105,742(-) GTAAT(C/T)ATGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD2 Gene

Variant ID Type Subtype PubMed ID
esv28230 CNV Gain+Loss 19812545
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
esv2734448 CNV Deletion 23290073
nsv526294 CNV Gain 19592680

Variation tolerance for CHCHD2 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD2 Gene

Human Gene Mutation Database (HGMD)
CHCHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD2 Gene

Disorders for CHCHD2 Gene

Relevant External Links for CHCHD2

Genetic Association Database (GAD)
CHCHD2
Human Genome Epidemiology (HuGE) Navigator
CHCHD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD2

No disorders were found for CHCHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHCHD2 Gene

Publications for CHCHD2 Gene

  1. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. (PMID: 23303788) Aras S. … Grossman L.I. (Nucleic Acids Res. 2013) 2 3 4 67
  2. MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism. (PMID: 25315652) Aras S. … Grossman L.I. (Mitochondrion 2015) 3
  3. CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation. (PMID: 25476776) Liu Y. … Zhang Y. (Cell Death Differ. 2015) 3
  4. Cyclic adenosine monophosphate response element-binding protein transcriptionally regulates CHCHD2 associated with the molecular pathogenesis of hepatocellular carcinoma. (PMID: 25625293) Song R. … Cheng J. (Mol Med Rep 2015) 3
  5. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. (PMID: 25662902) Funayama M. … Hattori N. (Lancet Neurol 2015) 3

Products for CHCHD2 Gene

Sources for CHCHD2 Gene

Content