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

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; AllianceGenome:HGNC:21645
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: mouse all
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Genomic context

Location:: 7p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (56101573..56106476, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (56261388..56266291, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (56169266..56174169, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
Title: Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
Loss of CHCHD2 Stability Coordinates with C1QBP/CHCHD2/CHCHD10 Complex Impairment to Mediate PD-Linked Mitochondrial Dysfunction.
Title: Loss of CHCHD2 Stability Coordinates with C1QBP/CHCHD2/CHCHD10 Complex Impairment to Mediate PD-Linked Mitochondrial Dysfunction.
Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes.
Title: Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes.
Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.
Title: Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.
CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress.
Title: CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress.
Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity.
Title: Epigenetic repression of CHCHD2 enhances survival from single cell dissociation through attenuated Rho A kinase activity.
A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia.
Title: A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia.
What is the role of CHCHD2 in adrenal tumourigenesis?
Title: What is the role of CHCHD2 in adrenal tumourigenesis?
Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection.
Title: Evidence for the participation of CHCHD2/MNRR1, a mitochondrial protein, in spontaneous labor at term and in preterm labor with intra-amniotic infection.
Increased CHCHD2 expression promotes liver fibrosis in nonalcoholic steatohepatitis via Notch/osteopontin signaling.
Title: Increased CHCHD2 expression promotes liver fibrosis in nonalcoholic steatohepatitis via Notch/osteopontin signaling.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Parkinson disease 22, autosomal dominant MedGen: C4225238 OMIM: 616710 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62103 (e-PCR)
- UniSTS:139138

RH103090 (e-PCR)
- UniSTS:97424

RH79870 (e-PCR)
- UniSTS:86740

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of positive regulation of mitochondrial ATP synthesis coupled electron transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of generation of precursor metabolites and energy	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.3.1.15

NP_057223.1

EC 2.3.1.15

NCBI Reference Sequences (RefSeq)

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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

NG_046734.1 RefSeqGene

Range

5155..10058

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA398444, CN363208, DB442753

UniProtKB/Swiss-Prot

Q5T1J5
NM_016139.4 → NP_057223.1 coiled-coil-helix-coiled-coil-helix domain-containing protein 2 isoform 2 precursor

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

Q498C3, Q5T1J5, Q6NZ50, Q9Y6H1

Related

ENSP00000378812.3, ENST00000395422.4