Chchd2 Coiled-coil-helix-coiled-coil-helix domain containing 2 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Chchd2provided by FlyBase
Official Full Name: Coiled-coil-helix-coiled-coil-helix domain containing 2provided by FlyBase
Primary source: FLYBASE:FBgn0260747
Locus tag: Dmel_CG5010
See related: AllianceGenome:FB:FBgn0260747
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: anon-15Dd; BcDNA:RE73921; C2C10H; CG5010; CHCHD2; dCHCHD2; Dmel\CG5010
Summary: Involved in cellular response to oxidative stress. Located in cytosol and nucleoplasm. Is expressed in several structures, including adult brain; adult brain cell body rind; adult gnathal ganglion; gut section; and larval somatic muscle cell. Used to study Parkinson's disease; Parkinson's disease 22; frontotemporal dementia and/or amyotrophic lateral sclerosis 2; and spinal muscular atrophy, Jokela type. Human ortholog(s) of this gene implicated in Parkinson's disease 22; frontotemporal dementia and/or amyotrophic lateral sclerosis 2; isolated mitochondrial myopathy; and spinal muscular atrophy, Jokela type. Orthologous to several human genes including CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 15E7-15E7; 1-57 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (17149001..17150647)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (17043034..17044680)

Chromosome X - NC_004354.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHCHD2 dynamically regulates the functions of cytochrome c in both oxidative phosphorylation and cell death in response to mitochondrial stress.
Title: Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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

Names: CG5010-PA; CG5010-PB; Chchd2-PA; Chchd2-PB; anon-15Dd; transcript f

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_004354.4 Reference assembly

Range

17149001..17150647

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_132968.2 → NP_573196.1 Coiled-coil-helix-coiled-coil-helix domain containing 2, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_573196.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9VX77

Related

FBpp0074161

Conserved Domains (1) summary

pfam06747
Location:133 → 165

CHCH; CHCH domain
NM_001298434.1 → NP_001285363.1 Coiled-coil-helix-coiled-coil-helix domain containing 2, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001285363.1

Status: REVIEWED

UniProtKB/TrEMBL

X2JFJ0

Conserved Domains (2) summary

pfam06747
Location:85 → 117

CHCH; CHCH domain

cl21457
Location:2 → 35

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...