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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

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

Summaries for CHCHD5 Gene

GeneCards Summary for CHCHD5 Gene

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

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

Enhancers for CHCHD5 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
GH02F112621 1.7 FANTOM5 Ensembl ENCODE 16.5 +43.7 43739 11.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 FLJ42351 POLR1B CHCHD5 NT5DC4 ENSG00000243389 ENSG00000207383 IL37 IL1B ANAPC1 IL1A
GH02F112541 1.1 ENCODE 24.8 -41.0 -41027 2.9 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 POLR1B CHCHD5 RPS20P11 RGPD8 ENSG00000207383 ENSG00000243389 ZC3H8 ANAPC1 LOC105373562 PIR56853
GH02F112582 1.5 FANTOM5 ENCODE 14 +0.6 612 3.3 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 YY1 SLC30A9 POLR1B RPS20P11 CHCHD5 TMEM87B RGPD8 ZC3H6 GC02M112581
GH02F112690 1.8 FANTOM5 Ensembl ENCODE 10.7 +108.6 108595 3.6 HDGF MLX WRNIP1 ARID4B FEZF1 FOS ZNF263 SP3 NFYC JUNB IL1RN FLJ42351 IL36B SLC20A1 IL1B ENSG00000243389 CHCHD5 ENSG00000207383 IL36G IL1A
GH02F112705 1.6 FANTOM5 Ensembl ENCODE 11 +124.3 124295 5.0 HDGF PKNOX1 ATF1 ARNT CBX5 ELK1 GATA2 ZNF263 JUNB NCOA1 IL1B ENSG00000243389 IL1RN SLC20A1 FLJ42351 IL36B ENSG00000207383 CHCHD5 CDK8P2 NT5DC4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHCHD5 on UCSC Golden Path with GeneCards custom track

Promoters for CHCHD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000677359 694 1801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 YY1 SLC30A9

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

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 2 CHCH (coiled coil-helix-coiled coil-helix) domains.
Domain:
  • Contains 2 CHCH (coiled coil-helix-coiled coil-helix) domains.
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

Inhibitory RNA Products

Clone 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 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

Gene Ontology (GO) - Cellular Components for CHCHD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space IEA,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

Transcripts for CHCHD5 Gene

Unigene Clusters for CHCHD5 Gene

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

Inhibitory RNA Products

Clone Products

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

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia CHCHD5 34 35
  • 90.3 (n)
cow
(Bos Taurus)
Mammalia CHCHD5 34 35
  • 87.27 (n)
mouse
(Mus musculus)
Mammalia Chchd5 34 16 35
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Chchd5 34
  • 84.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CHCHD5 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD5 34
  • 69.1 (n)
lizard
(Anolis carolinensis)
Reptilia CHCHD5 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495117 34
  • 65.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100000646 34
  • 58.51 (n)
CHCHD5 35
  • 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 Sequence Context AA Info Type
rs10196441 -- 112,589,334(+) TTTTT(A/T)TTTTT downstream-variant-500B
rs1047652 -- 112,588,935(+) CCCCC(A/C)CGCCC utr-variant-3-prime
rs111578545 -- 112,584,318(+) TCAGC(A/G)GCGCA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs112397474 -- 112,588,519(+) CCCTC(C/G)CATTC intron-variant, downstream-variant-500B
rs112498899 -- 112,586,115(+) TCCCA(C/G)TGAGT upstream-variant-2KB, splice-donor-variant

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

Variant ID Type Subtype PubMed ID
esv2720537 CNV deletion 23290073
nsv458997 CNV gain 19166990
nsv582708 CNV gain 21841781

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

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

MalaCards: The human disease database

(1) MalaCards diseases for CHCHD5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cellulitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHCHD5

Genetic Association Database (GAD)
CHCHD5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD5
genes like me logo Genes that share disorders with CHCHD5: view

No data available for 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for CHCHD5 Gene

Sources for CHCHD5 Gene

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