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Aliases for CHCHD5 Gene

Aliases for CHCHD5 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 5 2 3 5
  • C2orf9 3 4
  • Mitochondrial Intermembrane Space Cysteine Motif Protein Of 14 KDa Homolog (S. Cerevisiae) 2
  • Mitochondrial Intermembrane Space Cysteine Motif Protein Of 14 KDa Homolog 3
  • Chromosome 2 Open Reading Frame 9 2
  • MIC14 3

External Ids for CHCHD5 Gene

Previous HGNC Symbols for CHCHD5 Gene

  • C2orf9

Previous GeneCards Identifiers for CHCHD5 Gene

  • GC02P113437
  • GC02P113058
  • GC02P113341
  • GC02P105796
  • GC02P112652
  • GC02P112660

Summaries for CHCHD5 Gene

GeneCards Summary for CHCHD5 Gene

CHCHD5 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 5) is a Protein Coding gene.

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 CHCHD5 Gene

Genomics for CHCHD5 Gene

Regulatory Elements for CHCHD5 Gene

Promoters for CHCHD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHCHD5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD5 Gene

Chromosome:
2
Start:
112,583,606 bp from pter
End:
112,589,275 bp from pter
Size:
5,670 bases
Orientation:
Plus strand

Genomic View for CHCHD5 Gene

Genes around CHCHD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD5 Gene

Proteins for CHCHD5 Gene

  • Protein details for CHCHD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSY4-CHCH5_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 5
    Protein Accession:
    Q9BSY4
    Secondary Accessions:
    • Q585T4
    • Q8N8C4

    Protein attributes for CHCHD5 Gene

    Size:
    110 amino acids
    Molecular mass:
    12395 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CHCHD5 Gene

    Alternative splice isoforms for CHCHD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHCHD5 Gene

Proteomics data for CHCHD5 Gene at MOPED

Post-translational modifications for CHCHD5 Gene

No Post-translational modifications

Other Protein References for CHCHD5 Gene

No data available for DME Specific Peptides for CHCHD5 Gene

Domains & Families for CHCHD5 Gene

Protein Domains for CHCHD5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BSY4

UniProtKB/Swiss-Prot:

CHCH5_HUMAN :
  • Contains 1 CHCH domain.
Domain:
  • Contains 1 CHCH domain.
genes like me logo Genes that share domains with CHCHD5: view

Function for CHCHD5 Gene

genes like me logo Genes that share phenotypes with CHCHD5: view

Animal Model Products

miRNA for CHCHD5 Gene

miRTarBase miRNAs that target CHCHD5

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 CHCHD5 Gene

Localization for CHCHD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD5 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD5 Gene COMPARTMENTS Subcellular localization image for CHCHD5 gene
Compartment Confidence
mitochondrion 4
extracellular 3
cytosol 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for CHCHD5 Gene

Pathways & Interactions for CHCHD5 Gene

SuperPathways for CHCHD5 Gene

No Data Available

Interacting Proteins for CHCHD5 Gene

Gene Ontology (GO) - Biological Process for CHCHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 NOT mitochondrial respiratory chain complex IV assembly IBA --
genes like me logo Genes that share ontologies with CHCHD5: view

No data available for Pathways by source and SIGNOR curated interactions for CHCHD5 Gene

Drugs & Compounds for CHCHD5 Gene

No Compound Related Data Available

Transcripts for CHCHD5 Gene

Unigene Clusters for CHCHD5 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -

Relevant External Links for CHCHD5 Gene

GeneLoc Exon Structure for
CHCHD5
ECgene alternative splicing isoforms for
CHCHD5

Expression for CHCHD5 Gene

mRNA expression in normal human tissues for CHCHD5 Gene

Protein differential expression in normal tissues from HIPED for CHCHD5 Gene

This gene is overexpressed in Bone (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CHCHD5 Gene



SOURCE GeneReport for Unigene cluster for CHCHD5 Gene Hs.375707

genes like me logo Genes that share expression patterns with CHCHD5: view

Primer Products

In Situ Assay Products

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 Protein tissue co-expression partners for CHCHD5 Gene

Orthologs for CHCHD5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CHCHD5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHCHD5 35
  • 87.27 (n)
  • 86.36 (a)
CHCHD5 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD5 35
  • 90.3 (n)
  • 90 (a)
CHCHD5 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd5 35
  • 85.76 (n)
  • 90 (a)
Chchd5 16
Chchd5 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD5 35
  • 99.7 (n)
  • 100 (a)
CHCHD5 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd5 35
  • 84.44 (n)
  • 89.52 (a)
oppossum
(Monodelphis domestica)
Mammalia CHCHD5 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD5 35
  • 69.1 (n)
  • 60.42 (a)
lizard
(Anolis carolinensis)
Reptilia CHCHD5 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495117 35
  • 65.25 (n)
  • 60.64 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100000646 35
  • 58.51 (n)
  • 47.87 (a)
CHCHD5 36
  • 43 (a)
OneToOne
Species with no ortholog for CHCHD5:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CHCHD5 Gene

ENSEMBL:
Gene Tree for CHCHD5 (if available)
TreeFam:
Gene Tree for CHCHD5 (if available)

Paralogs for CHCHD5 Gene

No data available for Paralogs for CHCHD5 Gene

Variants for CHCHD5 Gene

Sequence variations from dbSNP and Humsavar for CHCHD5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1047652 -- 112,588,935(+) CCCCC(A/C)CGCCC utr-variant-3-prime
rs3748024 -- 112,588,836(-) TAGTA(C/G)CACCT intron-variant
rs5833450 -- 112,582,510(+) TTTTT(-/T/TT)GAGAC upstream-variant-2KB
rs7595338 -- 112,589,485(+) TCGCC(C/T)GGCTA downstream-variant-500B
rs10196441 -- 112,589,334(+) TTTTT(A/T)TTTTT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CHCHD5 Gene

Variant ID Type Subtype PubMed ID
nsv874877 CNV Loss 21882294
nsv458997 CNV Gain 19166990
esv2720537 CNV Deletion 23290073

Variation tolerance for CHCHD5 Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD5 Gene

HapMap Linkage Disequilibrium report
CHCHD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD5 Gene

Disorders for CHCHD5 Gene

Relevant External Links for CHCHD5

Genetic Association Database (GAD)
CHCHD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD5

No disorders were found for CHCHD5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHCHD5 Gene

Publications for CHCHD5 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CHCHD5 Gene

Sources for CHCHD5 Gene

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