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Aliases for CHCHD7 Gene

Aliases for CHCHD7 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 7 2 3 5
  • 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. GO annotations related to this gene include cytochrome-c oxidase activity.

No data available for Entrez Gene 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

Promoters for CHCHD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHCHD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD7 Gene

Chromosome:
8
Start:
56,211,686 bp from pter
End:
56,218,798 bp from pter
Size:
7,113 bases
Orientation:
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:
    Q9BUK0-CHCH7_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
    Protein Accession:
    Q9BUK0
    Secondary Accessions:
    • A8K223
    • E9PBH3
    • J3KNE9
    • Q7Z588

    Protein attributes for CHCHD7 Gene

    Size:
    85 amino acids
    Molecular mass:
    10095 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CHCHD7 Gene

Proteomics data for CHCHD7 Gene at MOPED

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

Protein Domains for CHCHD7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUK0

UniProtKB/Swiss-Prot:

CHCH7_HUMAN :
  • Contains 1 CHCH domain.
  • Belongs to the CHCHD7 family.
Domain:
  • Contains 1 CHCH domain.
Family:
  • Belongs to the CHCHD7 family.
genes like me logo Genes that share domains with CHCHD7: view

Function for CHCHD7 Gene

Phenotypes for CHCHD7 Gene

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

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CHCHD7 Gene COMPARTMENTS Subcellular localization image for CHCHD7 gene
Compartment Confidence
mitochondrion 4
extracellular 3
nucleus 3
chloroplast 1

No data available for Gene Ontology (GO) - Cellular Components for CHCHD7 Gene

Pathways & Interactions for CHCHD7 Gene

SuperPathways for CHCHD7 Gene

No Data Available

Interacting Proteins for CHCHD7 Gene

Gene Ontology (GO) - Biological Process for CHCHD7 Gene

None

No data available for Pathways by source and 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:

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: - - - - -
SP16:
SP17: - - - - -

ExUns: 6j · 6k
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for CHCHD7 Gene

GeneLoc Exon Structure for
CHCHD7
ECgene alternative splicing isoforms for
CHCHD7

Expression for CHCHD7 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CHCHD7 Gene



SOURCE GeneReport for Unigene cluster for CHCHD7 Gene Hs.436913

genes like me logo Genes that share expression patterns with CHCHD7: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CHCHD7 35
  • 82.75 (n)
  • 76.47 (a)
CHCHD7 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD7 35
  • 89.01 (n)
  • 82.98 (a)
CHCHD7 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd7 35
  • 87.06 (n)
  • 82.35 (a)
Chchd7 16
Chchd7 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD7 35
  • 99.7 (n)
  • 100 (a)
CHCHD7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd7 35
  • 88.24 (n)
  • 82.35 (a)
oppossum
(Monodelphis domestica)
Mammalia CHCHD7 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD7 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD7 35
  • 70 (n)
  • 58.75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd7 35
  • 62.75 (n)
  • 52.94 (a)
zebrafish
(Danio rerio)
Actinopterygii chchd7 35
  • 61.85 (n)
  • 53.01 (a)
chchd7 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4186 36
  • 39 (a)
OneToOne
Species with no ortholog for CHCHD7:
  • 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

ENSEMBL:
Gene Tree for CHCHD7 (if available)
TreeFam:
Gene Tree for CHCHD7 (if available)

Paralogs for CHCHD7 Gene

Pseudogenes.org 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
rs14859 -- 56,218,523(-) GACAG(A/G)CAGTT utr-variant-3-prime
rs7826445 -- 56,218,387(+) TGTTT(C/T)ATTCA utr-variant-3-prime
rs11541245 -- 56,218,348(-) GAGGG(A/C)TGCTT utr-variant-3-prime
rs11541246 -- 56,214,609(+) GACTG(C/T)TAGAA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34898595 -- 56,217,732(+) TGTGA(-/C)ACAAG downstream-variant-500B, utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
CHCHD7

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

UniProtKB/Swiss-Prot

CHCH7_HUMAN
  • 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)
CHCHD7
Human Genome Epidemiology (HuGE) Navigator
CHCHD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD7

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. (J. Struct. Biol. 2012) 2 3 4 67
  2. Genome-wide analysis of eukaryotic twin CX9C proteins. (PMID: 20922212) Cavallaro G. (Mol Biosyst 2010) 2 3
  3. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3

Products for CHCHD7 Gene

Sources for CHCHD7 Gene

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