Cox6a2 cytochrome c oxidase subunit 6A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cox6a2provided by MGI
Official Full Name: cytochrome c oxidase subunit 6A2provided by MGI
Primary source: MGI:MGI:104649
See related: Ensembl:ENSMUSG00000030785 AllianceGenome:MGI:104649
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: VIaH; CoxVIaH
Summary: Predicted to enable enzyme regulator activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. Part of respiratory chain complex IV. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; heart; limb; and musculature. Human ortholog(s) of this gene implicated in mitochondrial complex IV deficiency nuclear type 18. Orthologous to human COX6A2 (cytochrome c oxidase subunit 6A2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 1965.8) and mammary gland adult (RPKM 159.3) See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 70.04 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127804607..127805538, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (128205435..128206366, complement)

Chromosome 7 - NC_000073.7 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
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?

Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia.
Title: Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia.
Glucotoxicity-induced suppression of Cox6a2 expression provokes beta-cell dysfunction via augmented ROS production.
Title: Glucotoxicity-induced suppression of Cox6a2 expression provokes β-cell dysfunction via augmented ROS production.
Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function.
Title: Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function.
COX6A2 is a regulator of respiratory uncoupling in muscle.
Title: Mice deficient in the respiratory chain gene Cox6a2 are protected against high-fat diet-induced obesity and insulin resistance.

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Variation

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Alleles

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

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

General gene information

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Markers

Cox6a2 (e-PCR), detects polymorphism
- UniSTS:508563

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, cytochrome c to oxygen	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxidative phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome c oxidase subunit 6A2, mitochondrial

Names: cytochrome c oxidase polypeptide VIa-heart; cytochrome c oxidase subunit VIa polypeptide 2; subunit VIaH (heart-type)

NP_034073.2

EC 7.1.1.9

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.

mRNA and Protein(s)

NM_009943.2 → NP_034073.2 cytochrome c oxidase subunit 6A2, mitochondrial precursor

See identical proteins and their annotated locations for NP_034073.2

Status: VALIDATED

Source sequence(s)

AK002506, BF472154, BU842968

Consensus CDS

CCDS21891.1

UniProtKB/Swiss-Prot

P43023

UniProtKB/TrEMBL

Q8R2L0

Related

ENSMUSP00000033049.8, ENSMUST00000033049.9

Conserved Domains (1) summary

cd00925
Location:13 → 95

Cyt_c_Oxidase_VIa; Cytochrome c oxidase subunit VIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...