Human Gene CHCHD2 (uc003tsa.3) Description and Page Index
  Description: Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_016139): The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
Transcript (Including UTRs)
   Position: hg19 chr7:56,169,266-56,174,187 Size: 4,922 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr7:56,169,544-56,174,106 Size: 4,563 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:56,169,266-56,174,187)mRNA (may differ from genome)Protein (151 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial; AltName: Full=Aging-associated gene 10 protein; AltName: Full=HCV NS2 trans-regulated protein; Short=NS2TP; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
SIMILARITY: Contains 1 CHCH domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CHCHD2
CDC HuGE Published Literature: CHCHD2
Positive Disease Associations: Receptors, Tumor Necrosis Factor, Type II
Related Studies:
  1. Receptors, Tumor Necrosis Factor, Type II
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.

-  MalaCards Disease Associations
  MalaCards Gene Search: CHCHD2
Diseases sorted by gene-association score: parkinson disease 22, autosomal dominant* (1200), parkinson disease, late-onset (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 427.36 RPKM in Adrenal Gland
Total median expression: 8908.82 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.5081-0.278 Picture PostScript Text
3' UTR -71.10278-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010625 - CHCH

Pfam Domains:
PF06747 - CHCH domain

ModBase Predicted Comparative 3D Structure on Q9Y6H1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0007005 mitochondrion organization
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1900037 regulation of cellular response to hypoxia

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space

-  Descriptions from all associated GenBank mRNAs
  BC015639 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2, mRNA (cDNA clone MGC:23279 IMAGE:4637353), complete cds.
BC071985 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2, mRNA (cDNA clone MGC:88682 IMAGE:6426679), complete cds.
BC066331 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2, mRNA (cDNA clone MGC:87328 IMAGE:4792941), complete cds.
BC100275 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2, mRNA (cDNA clone MGC:117146 IMAGE:6192342), complete cds.
BC003079 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2, mRNA (cDNA clone MGC:699 IMAGE:2988156), complete cds.
AF078845 - Homo sapiens 16.7Kd protein mRNA, complete cds.
JD183355 - Sequence 164379 from Patent EP1572962.
JD314677 - Sequence 295701 from Patent EP1572962.
LF357352 - JP 2014500723-A/164855: Polycomb-Associated Non-Coding RNAs.
LF354123 - JP 2014500723-A/161626: Polycomb-Associated Non-Coding RNAs.
JD302762 - Sequence 283786 from Patent EP1572962.
AY633613 - Homo sapiens aging-associated gene 10 protein mRNA, complete cds.
CU688146 - Synthetic construct Homo sapiens gateway clone IMAGE:100021029 5' read CHCHD2 mRNA.
EU832651 - Synthetic construct Homo sapiens clone HAIB:100067680; DKFZo008F0131 coiled-coil-helix-coiled-coil-helix domain containing 2 protein (CHCHD2) gene, encodes complete protein.
EU832729 - Synthetic construct Homo sapiens clone HAIB:100067758; DKFZo004F0132 coiled-coil-helix-coiled-coil-helix domain containing 2 protein (CHCHD2) gene, encodes complete protein.
HQ448487 - Synthetic construct Homo sapiens clone IMAGE:100071919; CCSB011015_01 coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene, encodes complete protein.
KJ893832 - Synthetic construct Homo sapiens clone ccsbBroadEn_03226 CHCHD2 gene, encodes complete protein.
KJ898837 - Synthetic construct Homo sapiens clone ccsbBroadEn_08231 CHCHD2 gene, encodes complete protein.
AY605046 - Homo sapiens HCV NS2 trans-regulated protein mRNA, complete cds.
DL491523 - Novel nucleic acids.
Z36851 - H.sapiens (xs99) mRNA, 344bp.
DL490131 - Novel nucleic acids.
JD457937 - Sequence 438961 from Patent EP1572962.
MH071716 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain-containing protein 2 mRNA, partial cds.
MA592929 - JP 2018138019-A/164855: Polycomb-Associated Non-Coding RNAs.
MA589700 - JP 2018138019-A/161626: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y6H1 (Reactome details) participates in the following event(s):

R-HSA-1307802 MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AAG10, C7orf17, CHCH2_HUMAN, NM_016139, NP_057223, Q498C3, Q6NZ50, Q9Y6H1
UCSC ID: uc003tsa.3
RefSeq Accession: NM_016139
Protein: Q9Y6H1 (aka CHCH2_HUMAN)
CCDS: CCDS5526.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_016139.2
exon count: 4CDS single in 3' UTR: no RNA size: 831
ORF size: 456CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1112.00frame shift in genome: no % Coverage: 98.07
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.