COX6A2 cytochrome c oxidase subunit 6A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX6A2provided by HGNC
Official Full Name: cytochrome c oxidase subunit 6A2provided by HGNC
Primary source: HGNC:HGNC:2279
See related: Ensembl:ENSG00000156885 MIM:602009; AllianceGenome:HGNC:2279
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: COX6AH; COXVIAH; MC4DN18; COXVIa-M
Summary: Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 177.9), prostate (RPKM 30.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31427731..31428360, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31815129..31815775, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31439052..31439681, complement)

Chromosome 16 - NC_000016.10 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: 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?

COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes.
Title: COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes.
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.
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.
Bi-allelic variants in COX6A2 cause a striated muscle-specific form of COX deficiency.
Title: COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

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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
Mitochondrial complex 4 deficiency, nuclear type 18 MedGen: C5436720 OMIM: 619062 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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 generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 6A2, mitochondrial

Names: COX VIa-M; cytochrome c oxidase polypeptide VIa-heart; cytochrome c oxidase subunit VIA-muscle; cytochrome c oxidase subunit VIa polypeptide 2

NP_005196.1

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_005205.4 → NP_005196.1 cytochrome c oxidase subunit 6A2, mitochondrial precursor

See identical proteins and their annotated locations for NP_005196.1

Status: REVIEWED

Source sequence(s)

BP319904

Consensus CDS

CCDS10712.1

UniProtKB/Swiss-Prot

O00761, Q02221, Q6GTW6

UniProtKB/TrEMBL

H6SG13

Related

ENSP00000287490.4, ENST00000287490.5

Conserved Domains (1) summary

cd00925
Location:26 → 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 ...