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CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 [ Homo sapiens (human) ]

Gene ID: 51142, updated on 7-Dec-2018

Summary

Official Symbol
CHCHD2provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 2provided by HGNC
Primary source
HGNC:HGNC:21645
See related
Ensembl:ENSG00000106153 MIM:616244
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MNRR1; NS2TP; MIX17B; PARK22; C7orf17
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 189.5), bone marrow (RPKM 102.0) and 25 other tissues See more
Orthologs

Genomic context

See CHCHD2 in Genome Data Viewer
Location:
7p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (56101562..56106630, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56169266..56174187, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6A Neighboring gene small nucleolar RNA, H/ACA box 15 Neighboring gene sulfatase modifying factor 2 Neighboring gene phosphorylase kinase catalytic subunit gamma 1 Neighboring gene uncharacterized LOC105375288 Neighboring gene nuclear protein 2, transcriptional regulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 2
Names
16.7kD protein
HCV NS2 trans-regulated protein
MIX17 homolog B
aging-associated gene 10 protein
coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial
mitochondria nuclear retrograde regulator 1
mitochondrial nuclear retrograde regulator 1
NP_001307256.1
NP_057223.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046734.1 RefSeqGene

    Range
    5001..10069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320327.1NP_001307256.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA398444, AC006970, AI218619, CN363208, DB442753
    Conserved Domains (1) summary
    pfam06747
    Location:114147
    CHCH; CHCH domain
  2. NM_016139.4NP_057223.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor isoform 2

    See identical proteins and their annotated locations for NP_057223.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC003079, DB442753
    Consensus CDS
    CCDS5526.1
    UniProtKB/Swiss-Prot
    Q9Y6H1
    Related
    ENSP00000378812.3, ENST00000395422.3
    Conserved Domains (1) summary
    pfam06747
    Location:114147
    CHCH; CHCH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    56101562..56106630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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