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Aliases for CHCHD7 Gene

Aliases for CHCHD7 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 7 2 3 5
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 7 3
  • COX23 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae) 2
  • COX23 Cytochrome C Oxidase Assembly Homolog 3
  • COX23 3

External Ids for CHCHD7 Gene

Previous GeneCards Identifiers for CHCHD7 Gene

  • GC08P057174
  • GC08P057286
  • GC08P052591
  • GC08P057124

Summaries for CHCHD7 Gene

GeneCards Summary for CHCHD7 Gene

CHCHD7 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 7) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. GO annotations related to this gene include cytochrome-c oxidase activity.

Additional gene information for CHCHD7 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD7 Gene

Genomics for CHCHD7 Gene

Regulatory Elements for CHCHD7 Gene

Enhancers for CHCHD7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H056242 0.7 ENCODE 11.6 +30.4 30431 0 CTCF RB1 MAX BMI1 RAD21 RFX5 CC2D1A SMC3 ZNF143 ZNF207 PLAG1 CHCHD7 RPS20 PIR62677 ENSG00000254216
GH08H056209 1.1 ENCODE 6 -0.6 -617 3 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 ZNF143 ZNF207 FOS SP5 TGS1 RPS20 CHCHD7 PLAG1 GC08M056160
GH08H056173 0.5 ENCODE 11.6 -37.8 -37807 1 JUND JUN CREB1 FOS PLAG1 CHCHD7 MOS GC08M056160 GC08M056122 ENSG00000221093
GH08H056167 0.4 ENCODE 10.8 -44.4 -44390 0 SCRT2 MOS PLAG1 CHCHD7 GC08M056160 GC08M056122 ENSG00000221093
GH08H056220 0.5 ENCODE 0.4 +9.0 8971 0 JUND JUN USF2 FOS ENSG00000272343 CHCHD7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHCHD7 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224735 -286 3201 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 ZNF143 ZNF207 FOS SP5

Genomic Location for CHCHD7 Gene

56,211,686 bp from pter
56,218,798 bp from pter
7,113 bases
Plus strand

Genomic View for CHCHD7 Gene

Genes around CHCHD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD7 Gene

Proteins for CHCHD7 Gene

  • Protein details for CHCHD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
    Protein Accession:
    Secondary Accessions:
    • A8K223
    • E9PBH3
    • J3KNE9
    • Q7Z588

    Protein attributes for CHCHD7 Gene

    85 amino acids
    Molecular mass:
    10095 Da
    Quaternary structure:
    • Monomer.
    • Sequence=EAW86776.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHCHD7 Gene

    Alternative splice isoforms for CHCHD7 Gene


neXtProt entry for CHCHD7 Gene

Post-translational modifications for CHCHD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CHCHD7 Gene

Domains & Families for CHCHD7 Gene

Gene Families for CHCHD7 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CHCHD7 Gene


Suggested Antigen Peptide Sequences for CHCHD7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CHCHD7 family.
  • Belongs to the CHCHD7 family.
genes like me logo Genes that share domains with CHCHD7: view

Function for CHCHD7 Gene

Phenotypes From GWAS Catalog for CHCHD7 Gene

genes like me logo Genes that share phenotypes with CHCHD7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHCHD7 Gene

Localization for CHCHD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD7 Gene

Mitochondrion intermembrane space.

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 CHCHD7 gene
Compartment Confidence
mitochondrion 4
extracellular 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHCHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with CHCHD7: view

Pathways & Interactions for CHCHD7 Gene

genes like me logo Genes that share pathways with CHCHD7: view

Pathways by source for CHCHD7 Gene

2 Reactome pathways for CHCHD7 Gene

Interacting Proteins for CHCHD7 Gene

Selected Interacting proteins: Q9BUK0-CHCH7_HUMAN for CHCHD7 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CHCHD7 Gene


No data available for SIGNOR curated interactions for CHCHD7 Gene

Drugs & Compounds for CHCHD7 Gene

No Compound Related Data Available

Transcripts for CHCHD7 Gene

Unigene Clusters for CHCHD7 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i ·
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13: - - -
SP14: - - - -
SP15: - - - - -
SP17: - - - - -

ExUns: 6j · 6k

Relevant External Links for CHCHD7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHCHD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHCHD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHCHD7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.2) and Heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHCHD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHCHD7 Gene:


SOURCE GeneReport for Unigene cluster for CHCHD7 Gene:


Evidence on tissue expression from TISSUES for CHCHD7 Gene

  • Nervous system(4.5)
  • Heart(4.3)
genes like me logo Genes that share expression patterns with CHCHD7: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHCHD7 Gene

Orthologs for CHCHD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHCHD7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHCHD7 33 34
  • 99.7 (n)
(Canis familiaris)
Mammalia CHCHD7 33 34
  • 89.01 (n)
(Rattus norvegicus)
Mammalia Chchd7 33
  • 88.24 (n)
(Mus musculus)
Mammalia Chchd7 33 16 34
  • 87.06 (n)
(Bos Taurus)
Mammalia CHCHD7 33 34
  • 82.75 (n)
(Monodelphis domestica)
Mammalia CHCHD7 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia CHCHD7 34
  • 65 (a)
(Gallus gallus)
Aves CHCHD7 33
  • 70 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd7 33
  • 62.75 (n)
(Danio rerio)
Actinopterygii chchd7 33 34
  • 61.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4186 34
  • 39 (a)
Species where no ortholog for CHCHD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CHCHD7 Gene

Gene Tree for CHCHD7 (if available)
Gene Tree for CHCHD7 (if available)

Paralogs for CHCHD7 Gene Pseudogenes for CHCHD7 Gene

genes like me logo Genes that share paralogs with CHCHD7: view

No data available for Paralogs for CHCHD7 Gene

Variants for CHCHD7 Gene

Sequence variations from dbSNP and Humsavar for CHCHD7 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000404031 -- 56,213,827(+) GCAAT(A/T)ACTTG intron-variant
rs1000413916 -- 56,213,611(+) GGTCT(C/T)GAACT intron-variant
rs1000876584 -- 56,211,873(+) CGGCC(G/T)CAGAA intron-variant, upstream-variant-2KB
rs1001043727 -- 56,217,813(+) GGCAA(A/G)AGAAG nc-transcript-variant, utr-variant-3-prime
rs1001392671 -- 56,211,090(+) CGCCT(A/C)GCCGC intron-variant, upstream-variant-2KB

Variation tolerance for CHCHD7 Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CHCHD7 Gene

Disorders for CHCHD7 Gene


  • Note=A chromosomal aberration involving CHCHD7 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with PLAG1. {ECO:0000269 PubMed:16736500}.

Relevant External Links for CHCHD7

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

No disorders were found for CHCHD7 Gene.

No data available for MalaCards and Genatlas for CHCHD7 Gene

Publications for CHCHD7 Gene

  1. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. (PMID: 22842048) Banci L … Winkelmann J (Journal of structural biology 2012) 2 3 4 60
  2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 45 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Genome-wide analysis of eukaryotic twin CX9C proteins. (PMID: 20922212) Cavallaro G (Molecular bioSystems 2010) 2 3 60
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U … Jarvelin MR (PLoS genetics 2009) 3 45 60

Products for CHCHD7 Gene

Sources for CHCHD7 Gene

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