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Aliases for CHCHD2 Gene

Aliases for CHCHD2 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 2 3
  • Aging-Associated Gene 10 Protein 3 4
  • HCV NS2 Trans-Regulated Protein 3 4
  • C7orf17 3 4
  • NS2TP 3 4
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial 3
  • Chromosome 7 Open Reading Frame 17 2
  • 16.7kD Protein 3

External Ids for CHCHD2 Gene

Previous Symbols for CHCHD2 Gene

  • C7orf17

Summaries for CHCHD2 Gene

GeneCards Summary for CHCHD2 Gene

CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is CHCHD10.

UniProtKB/Swiss-Prot for CHCHD2 Gene

  • Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD2 Gene

Genomics for CHCHD2 Gene

Genomic Location for CHCHD2 Gene

Start:
56,101,569 bp from pter
End:
56,106,576 bp from pter
Size:
5,008 bases
Orientation:
Minus strand

Genomic View for CHCHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHCHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD2 Gene

Regulatory Elements for CHCHD2 Gene

Proteins for CHCHD2 Gene

  • Protein details for CHCHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6H1-CHCH2_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 2
    Protein Accession:
    Q9Y6H1
    Secondary Accessions:
    • Q498C3
    • Q6NZ50

    Protein attributes for CHCHD2 Gene

    Size:
    151 amino acids
    Molecular mass:
    15513 Da
    Quaternary structure:
    • Interacts with RBPJ.

neXtProt entry for CHCHD2 Gene

Proteomics data for CHCHD2 Gene at MOPED

Post-translational modifications for CHCHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHCHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHCHD2 Gene

Domains for CHCHD2 Gene

Gene Families for CHCHD2 Gene

HGNC:
  • CHCHD :Coiled-coil-helix-coiled-coil-helix domain containing

Protein Domains for CHCHD2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

CHCH2_HUMAN
Domain:
  • Contains 1 CHCH domain.:
    • Q9Y6H1
genes like me logo Genes that share domains with CHCHD2: view

Function for CHCHD2 Gene

Molecular function for CHCHD2 Gene

UniProtKB/Swiss-Prot Function: Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788).
UniProtKB/Swiss-Prot Induction: Up-regulated by hypoxia (4% oxygen) (at protein level).

Gene Ontology (GO) - Molecular Function for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008134 transcription factor binding IPI 23303788
GO:0043565 sequence-specific DNA binding IDA 23303788
genes like me logo Genes that share ontologies with CHCHD2: view

Phenotypes for CHCHD2 Gene

GenomeRNAi human phenotypes for CHCHD2:
genes like me logo Genes that share phenotypes with CHCHD2: view

miRNA for CHCHD2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHCHD2 Gene

Localization for CHCHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD2 Gene COMPARTMENTS Subcellular localization image for CHCHD2 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 23303788
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with CHCHD2: view

Pathways for CHCHD2 Gene

SuperPathways for CHCHD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHCHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 23303788
GO:1900037 regulation of cellular response to hypoxia IDA 23303788
genes like me logo Genes that share ontologies with CHCHD2: view

No data available for Pathways by source for CHCHD2 Gene

Transcripts for CHCHD2 Gene

mRNA/cDNA for CHCHD2 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1150) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHCHD2 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD2 Gene

No ASD Table

Relevant External Links for CHCHD2 Gene

GeneLoc Exon Structure for
CHCHD2
ECgene alternative splicing isoforms for
CHCHD2

Expression for CHCHD2 Gene

mRNA expression in normal human tissues for CHCHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHCHD2 Gene

SOURCE GeneReport for Unigene cluster for CHCHD2 Gene Hs.389996

genes like me logo Genes that share expressions with CHCHD2: view

Orthologs for CHCHD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHCHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHCHD2 36
  • 99.78 (n)
  • 100 (a)
CHCHD2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHCHD2 36
  • 86.98 (n)
  • 92.05 (a)
CHCHD9 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD2 36
  • 89.11 (n)
  • 91.33 (a)
CHCHD2 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd2 36
  • 83.11 (n)
  • 86.67 (a)
Chchd2 16
Chchd2 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHCHD2 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD2 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd2 36
  • 83.11 (n)
  • 83.33 (a)
chicken
(Gallus gallus)
Aves CHCHD2 36
  • 75.66 (n)
  • 77.78 (a)
CHCHD2 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agpat9 36
  • 69.56 (n)
  • 78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10376 36
zebrafish
(Danio rerio)
Actinopterygii chchd2 36
  • 65.78 (n)
  • 66.89 (a)
chchd2 37
  • 62 (a)
OneToOne
zgc73266 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000897 36
  • 56.08 (n)
  • 54.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31007 37
  • 29 (a)
ManyToMany
CG31008 37
  • 32 (a)
ManyToMany
CG5010 36
  • 61.22 (n)
  • 54.08 (a)
CG5010 37
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea har-1 37
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIC17 37
  • 35 (a)
OneToMany
Species with no ortholog for CHCHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)

Evolution for CHCHD2 Gene

ENSEMBL:
Gene Tree for CHCHD2 (if available)
TreeFam:
Gene Tree for CHCHD2 (if available)

Paralogs for CHCHD2 Gene

Paralogs for CHCHD2 Gene

Selected SIMAP similar genes for CHCHD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHCHD2: view

Variants for CHCHD2 Gene

Sequence variations from dbSNP and Humsavar for CHCHD2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs8406 -- 56,101,726(-) TTCCT(A/G)GCTTC utr-variant-3-prime
rs10043 -- 56,106,422(-) GTCGC(G/T)TACCT utr-variant-5-prime
rs816406 -- 56,106,478(-) TCTCC(G/T)CAGAA utr-variant-5-prime
rs816407 -- 56,106,447(-) TTGTC(A/C)CACGT utr-variant-5-prime
rs816408 -- 56,106,277(-) GGGGG(C/T)GAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD2 Gene

Variant ID Type Subtype PubMed ID
esv28230 CNV Gain+Loss 19812545
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
esv2734448 CNV Deletion 23290073
nsv526294 CNV Gain 19592680

Relevant External Links for CHCHD2 Gene

HapMap Linkage Disequilibrium report
CHCHD2

Disorders for CHCHD2 Gene

Relevant External Links for CHCHD2

Genetic Association Database (GAD)
CHCHD2
Human Genome Epidemiology (HuGE) Navigator
CHCHD2
genes like me logo Genes that share disorders with CHCHD2: view

No data available for UniProtKB/Swiss-Prot for CHCHD2 Gene

Publications for CHCHD2 Gene

  1. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. (PMID: 23303788) Aras S. … Grossman L.I. (Nucleic Acids Res. 2013) 2 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PMID: 22505724) Udeshi N.D. … Carr S.A. (Mol. Cell Proteomics 2012) 3

Products for CHCHD2 Gene

Sources for CHCHD2 Gene

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