Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chchd2provided by MGI
Official Full Name: coiled-coil-helix-coiled-coil-helix domain containing 2provided by MGI
Primary source: MGI:MGI:1261428
See related: Ensembl:ENSMUSG00000070493 AllianceGenome:MGI:1261428
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Etohi6
Summary: Predicted to enable DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Predicted to be involved in mitochondrion organization; positive regulation of transcription by RNA polymerase II; and regulation of cellular response to hypoxia. Located in mitochondrion. Is expressed in several structures, including cerebral cortex; diaphragm; gonad; head mesenchyme; and vertebral axis musculature. Human ortholog(s) of this gene implicated in Parkinson's disease 22. Orthologous to several human genes including CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 1404.4), duodenum adult (RPKM 1158.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G1.3; 5 68.26 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (129910002..129916311, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (129881161..129887470, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2.
Title: Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2.
CHCHD2 p.Thr61Ile knock-in mice exhibit motor defects and neuropathological features of Parkinson's disease.
Title: CHCHD2 p.Thr61Ile knock-in mice exhibit motor defects and neuropathological features of Parkinson's disease.
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.
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice.
Title: Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice.
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
Title: Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
Intracellular localization and further functional studies suggested that CHCHD2 and HABP1 may mutually regulate each other to balance cell migration.
Title: Identification of novel cell migration-promoting genes by a functional genetic screen.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124233 (e-PCR)
- UniSTS:161055

NoName (e-PCR)
- UniSTS:235328

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitochondrial ATP synthesis coupled electron transport	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: coiled-coil-helix-coiled-coil-helix domain-containing protein 2

Names: coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial; ethanol induced 6

NP_077128.2

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.