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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.

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

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
GH08F056242 0.4 ENCODE 11.6 +30.4 30431 0.2 CTCF ZNF654 RNF2 MAX TRIM22 BMI1 REST RAD21 RFX5 JUND CHCHD7 PLAG1 RPS20 ENSG00000254216 PIR62677
GH08F056173 0.8 Ensembl ENCODE 11.6 -37.8 -37807 1.2 JUND JUN BHLHE40 FOS PLAG1 CHCHD7 MOS GC08M056160 ENSG00000221093 GC08M056122
GH08F056167 0.2 ENCODE 10.8 -44.4 -44390 0.2 JUND MOS PLAG1 CHCHD7 GC08M056160 ENSG00000221093 GC08M056122
GH08F056209 0.2 ENCODE 6 -0.6 -617 3.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS ZNF263 RPS20 CHCHD7 PLAG1 GC08M056160
GH08F056220 0.2 ENCODE 0.4 +9.0 8971 0.2 JUND RAD51 JUN USF2 FOS ENSG00000272343 CHCHD7
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001722319 -186 3401 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS ZNF263

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

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 (coiled coil-helix-coiled coil-helix) domain.
  • Belongs to the CHCHD7 family.
Domain:
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
Family:
  • Belongs to the CHCHD7 family.
genes like me logo Genes that share domains with CHCHD7: view

Function for CHCHD7 Gene

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

Animal Model 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

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

Gene Ontology (GO) - Biological Process for CHCHD7 Gene

None

No data available for SIGNOR curated interactions for CHCHD7 Gene

Transcripts for CHCHD7 Gene

Unigene Clusters for CHCHD7 Gene

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

Flow Cytometry 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: - - - - -
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, MaxQB, and MOPED for CHCHD7 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHCHD7 Gene:

CHCHD7

SOURCE GeneReport for Unigene cluster for CHCHD7 Gene:

Hs.436913
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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CHCHD7 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia CHCHD7 34 35
  • 89.01 (n)
rat
(Rattus norvegicus)
Mammalia Chchd7 34
  • 88.24 (n)
mouse
(Mus musculus)
Mammalia Chchd7 34 16 35
  • 87.06 (n)
cow
(Bos Taurus)
Mammalia CHCHD7 34 35
  • 82.75 (n)
oppossum
(Monodelphis domestica)
Mammalia CHCHD7 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD7 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD7 34
  • 70 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd7 34
  • 62.75 (n)
zebrafish
(Danio rerio)
Actinopterygii chchd7 34 35
  • 61.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4186 35
  • 39 (a)
OneToOne
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

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
rs10690054 -- 56,212,163(+) GTCTC(-/AG)GGCAC intron-variant, upstream-variant-2KB
rs111253733 -- 56,217,354(+) AGAAG(A/C)AAGAA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs111729387 -- 56,212,694(+) TTTAG(C/T)GGAGC intron-variant, upstream-variant-2KB
rs112135941 -- 56,213,523(+) AGTAG(C/T)TGGGA intron-variant
rs112613153 -- 56,216,711(+) TTAGC(C/T)GCCTC intron-variant, nc-transcript-variant

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
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 64
  2. Genome-wide analysis of eukaryotic twin CX9C proteins. (PMID: 20922212) Cavallaro G. (Mol Biosyst 2010) 2 3 64
  3. 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 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 46 64

Products for CHCHD7 Gene

Sources for CHCHD7 Gene

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