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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
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 5 3
  • Chromosome 2 Open Reading Frame 9 2
  • MIC14 3
  • MIX14 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
  • GC02P112667
  • GC02P112715
  • GC02P112826
  • GC02P112911
  • GC02P113133

Summaries for CHCHD5 Gene

GeneCards Summary for CHCHD5 Gene

CHCHD5 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 5) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

Additional gene information for CHCHD5 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 CHCHD5 Gene

Genomics for CHCHD5 Gene

GeneHancer (GH) Regulatory Elements for CHCHD5 Gene

Promoters and enhancers for CHCHD5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I112582 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 564 +0.6 611 3.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YBX1 IRF4 YY1 SLC30A9 CHCHD5 GC02M112581 PIR48157 LOC101927330 POLR1B TMEM87B RPS20P11 ANAPC1 RGPD8 ZC3H6
GH02I112583 Enhancer 0.6 ENCODE 550.8 -1.2 -1157 0.2 CTCF PKNOX1 ZNF654 NFATC3 TRIM22 ZNF384 REST DPF2 RAD21 GABPA CHCHD5 POLR1B GC02M112580 GC02M112581 ENSG00000207383
GH02I112541 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.8 -41.0 -41027 2.9 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B POLR1B LOC105373562 CHCHD5 ANAPC1 RGPD8 RPS20P11 TMEM87B ENSG00000207383 ENSG00000243389 ZC3H8
GH02I112621 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +43.7 43738 11.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS FLJ42351 POLR1B CHCHD5 NT5DC4 ENSG00000243389 ENSG00000207383 IL37 IL1B ANAPC1 IL1A
GH02I112642 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.2 +62.5 62454 6.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 FLJ42351 PIR36945 SLC20A1 TMEM87B ANAPC1 RPS20P11 ENSG00000243389 CHCHD5 ENSG00000207383 POLR1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHCHD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHCHD5 gene promoter:

Genomic Locations for CHCHD5 Gene

Genomic Locations for CHCHD5 Gene
chr2:112,583,606-112,589,275
(GRCh38/hg38)
Size:
5,670 bases
Orientation:
Plus strand
chr2:113,341,817-113,346,852
(GRCh37/hg19)

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

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

Gene 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

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

No data available for UniProtKB/Swiss-Prot for CHCHD5 Gene

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 CHCHD5 gene
Compartment Confidence
mitochondrion 4
extracellular 3
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHCHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space IBA --
genes like me logo Genes that share ontologies with CHCHD5: view

Pathways & Interactions for CHCHD5 Gene

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

Pathways by source for CHCHD5 Gene

2 Reactome pathways for CHCHD5 Gene

Interacting Proteins for CHCHD5 Gene

Gene Ontology (GO) - Biological Process for CHCHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009060 aerobic respiration IBA --
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 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CHCHD5 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHCHD5 Gene:

CHCHD5

SOURCE GeneReport for Unigene cluster for CHCHD5 Gene:

Hs.375707

Evidence on tissue expression from TISSUES for CHCHD5 Gene

  • Intestine(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with CHCHD5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 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
chimpanzee
(Pan troglodytes)
Mammalia CHCHD5 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia CHCHD5 34 33
  • 90.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHCHD5 33 34
  • 87.27 (n)
mouse
(Mus musculus)
Mammalia Chchd5 33 16 34
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Chchd5 33
  • 84.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CHCHD5 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD5 33
  • 69.1 (n)
lizard
(Anolis carolinensis)
Reptilia CHCHD5 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495117 33
  • 65.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000646 33
  • 58.51 (n)
CHCHD5 34
  • 43 (a)
OneToOne
Species where no ortholog for CHCHD5 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)
  • 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 Variation AA Info Type
rs1001414872 -- 112,587,377(+) C/T 3_prime_UTR_variant, intron_variant
rs1001879160 -- 112,583,695(+) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1002100149 -- 112,589,292(+) TTTTTTTTT/TTTTTTTT/TTTTTTTTTT downstream_transcript_variant
rs1003026306 -- 112,589,105(+) T/C downstream_transcript_variant
rs1003029284 -- 112,582,539(+) G/C upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv582708 CNV gain 21841781
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)

Additional Variant Information for CHCHD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHCHD5

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

Disorders for CHCHD5 Gene

Additional Disease Information for 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 (Journal of structural biology 2012) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 58

Products for CHCHD5 Gene

Sources for CHCHD5 Gene

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