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Aliases for CHCHD2 Gene

Aliases for CHCHD2 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 2 3 5
  • Mitochondrial Nuclear Retrograde Regulator 1 2 3
  • Aging-Associated Gene 10 Protein 3 4
  • HCV NS2 Trans-Regulated Protein 3 4
  • MIX17 Homolog B 2 3
  • C7orf17 3 4
  • NS2TP 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial 3
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2 3
  • Mitochondria Nuclear Retrograde Regulator 1 3
  • Chromosome 7 Open Reading Frame 17 2
  • 16.7kD Protein 3
  • MIX17B 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. Diseases associated with CHCHD2 include Parkinson Disease 22, Autosomal Dominant and Essential Tremor. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (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).

Additional gene information for CHCHD2 Gene

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

Genomics for CHCHD2 Gene

GeneHancer (GH) Regulatory Elements for CHCHD2 Gene

Promoters and enhancers for CHCHD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J056104 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 679.4 +0.0 37 3.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 CHCHD2 SUMF2 LOC154937 CCT6A NIPSNAP2 PSPHP1 ZNF713 PHKG1
GH07J056049 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.9 +54.5 54549 4.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 PSPH CCT6A CHCHD2 SUMF2 LOC154937 NIPSNAP2 PSPHP1 PIR60303 GC07P056054
GH07J056091 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 28.2 +14.0 14000 2.2 CTCF RXRA REST ETV5 RAD21 NR2F2 XRCC5 GATA3 POLR2A ZNF341 PHKG1 CHCHD2 NIPSNAP2 SUMF2 MRPS17 PSPHP1
GH07J056059 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16.3 +43.9 43892 6.2 HDGF SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 FOS SUMF2 NIPSNAP2 CHCHD2 PHKG1 PSPHP1 MRPS17 PSPH SNORA15 GC07P056082 CCT6A
GH07J055951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.7 +154.6 154551 1.6 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 SP3 NFYC ZHX2 NIPSNAP2 MRPS17 SUMF2 CHCHD2 ZNF713 PIR39528 ENSG00000249773
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHCHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHCHD2 gene promoter:
  • SEF-1 (1)
  • CP2
  • FOXO4
  • Pax-5
  • CBF(2)
  • NF-Y
  • FOXF2
  • HEN1
  • Hlf
  • NRSF form 1

Genomic Locations for CHCHD2 Gene

Genomic Locations for CHCHD2 Gene
5,008 bases
Minus strand
5,008 bases
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:
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q498C3
    • Q6NZ50

    Protein attributes for CHCHD2 Gene

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

neXtProt entry for CHCHD2 Gene

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

Gene Families for CHCHD2 Gene

Protein Domains for CHCHD2 Gene


Suggested Antigen Peptide Sequences for CHCHD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CHCHD2 Gene

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).

Phenotypes From GWAS Catalog for CHCHD2 Gene

Gene Ontology (GO) - Molecular Function for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24955142
GO:0008134 transcription factor binding IPI 23303788
GO:0043565 sequence-specific DNA binding IDA 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

Clone 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

Nucleus. Mitochondrion. Mitochondrion intermembrane space. Note=Mainly localised in the intermembrane space. {ECO:0000269 PubMed:25662902}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHCHD2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 23303788
GO:0005739 mitochondrion IDA,IEA 25662902
GO:0005758 mitochondrial intermembrane space IEA,IDA 25662902
genes like me logo Genes that share ontologies with CHCHD2: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007005 mitochondrion organization IBA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 23303788
GO:1900037 regulation of cellular response to hypoxia IDA 23303788
genes like me logo Genes that share ontologies with CHCHD2: view

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

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1150) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHCHD2 Gene

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

Clone Products

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

No ASD Table

Relevant External Links for CHCHD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHCHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CHCHD2 Gene

Protein tissue co-expression partners for CHCHD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHCHD2 Gene:


SOURCE GeneReport for Unigene cluster for CHCHD2 Gene:


Evidence on tissue expression from TISSUES for CHCHD2 Gene

  • Nervous system(4.9)
  • Intestine(4.7)
  • Lung(4.7)
  • Pancreas(4.3)
  • Skin(4.2)
  • Eye(3.2)
  • Stomach(3.1)
  • Muscle(2.6)
  • Liver(2.2)
  • Adrenal gland(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CHCHD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CHCHD2 34 33
  • 99.78 (n)
(Bos Taurus)
Mammalia CHCHD9 34
  • 90 (a)
  • 86.98 (n)
(Canis familiaris)
Mammalia CHCHD2 34 33
  • 89.11 (n)
(Monodelphis domestica)
Mammalia CHCHD2 34
  • 85 (a)
(Mus musculus)
Mammalia Chchd2 34 33
  • 83.11 (n)
Chchd2-ps 16
(Rattus norvegicus)
Mammalia Chchd2 33
  • 83.11 (n)
(Ornithorhynchus anatinus)
Mammalia CHCHD2 34
  • 81 (a)
(Gallus gallus)
Aves CHCHD2 34 33
  • 75.66 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia agpat9 33
  • 69.56 (n)
(Danio rerio)
Actinopterygii chchd2 34 33
  • 65.78 (n)
zgc73266 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10376 33
fruit fly
(Drosophila melanogaster)
Insecta CG5010 34 33
  • 61.22 (n)
CG31008 34
  • 32 (a)
CG31007 34
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000897 33
  • 56.08 (n)
(Caenorhabditis elegans)
Secernentea har-1 34
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIC17 34
  • 35 (a)
Species where no ortholog for CHCHD2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for CHCHD2 (if available)
Gene Tree for CHCHD2 (if available)
Evolutionary constrained regions (ECRs) for CHCHD2: view image

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

Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD2 Gene

Mutations in CHCHD2 are rare, and might vary by ethnic origin.

Sequence variations from dbSNP and Humsavar for CHCHD2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs750014782 pathogenic, Parkinson disease 22, autosomal dominant 56,104,221(-) C/T intron_variant
rs752169833 pathogenic, Parkinson disease 22, autosomal dominant, Parkinson disease 22 (PARK22) [MIM:616710] 56,102,878(-) C/A/T coding_sequence_variant, missense_variant
rs864309650 pathogenic, Parkinson disease 22, autosomal dominant, Parkinson disease 22 (PARK22) [MIM:616710] 56,104,344(-) G/A coding_sequence_variant, missense_variant
rs1000020811 -- 56,104,046(-) T/G intron_variant
rs1000062782 -- 56,107,857(-) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3576358 CNV gain 25503493
esv3613248 CNV gain 21293372
esv3613258 CNV gain 21293372
esv3613259 CNV gain 21293372
nsv526294 CNV gain 19592680
nsv970483 CNV duplication 23825009

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)

Additional Variant Information for CHCHD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for CHCHD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CHCHD2 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 22, autosomal dominant
  • park22
essential tremor
  • benign essential tremor
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards


  • Parkinson disease 22 (PARK22) [MIM:616710]: An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269 PubMed:25662902}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for CHCHD2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHCHD2: view

No data available for 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 LI (Nucleic acids research 2013) 2 3 4 58
  2. CHCHD2 connects mitochondrial metabolism to apoptosis. (PMID: 27308501) Liu Y … Zhang Y (Molecular & cellular oncology 2015) 2 3 58
  3. Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. (PMID: 26561290) Ogaki K … Ross OA (Neurology 2015) 3 4 58
  4. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. (PMID: 25662902) Funayama M … Hattori N (The Lancet. Neurology 2015) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for CHCHD2 Gene

Sources for CHCHD2 Gene

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