COA5 cytochrome c oxidase assembly factor 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COA5provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor 5provided by HGNC
Primary source: HGNC:HGNC:33848
See related: Ensembl:ENSG00000183513 MIM:613920; AllianceGenome:HGNC:33848
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: MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik
Summary: This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (98599314..98608512, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (99057641..99066839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (99215777..99224975, complement)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ortholog of fungal COX assembly protein PET191
Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
C2orf64 is essential for complex IV assembly, and C2orf64 mutational analysis should be considered for complex IV deficient patients, in particular those with hypertrophic cardiomyopathy
Title: A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

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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
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MedGen: C4225154 OMIM: 616500 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

RH45728 (e-PCR)
- UniSTS:63506

RH70762 (e-PCR)
- UniSTS:84867

D2S1730E (e-PCR)
- UniSTS:150759

STS-N89909 (e-PCR)
- UniSTS:63471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in leukocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in thymus development	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 5

Names: protein C2orf64

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_031918.1 RefSeqGene

Range

5007..14205

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008215.3 → NP_001008216.1 cytochrome c oxidase assembly factor 5

Status: REVIEWED

Source sequence(s)

AC010134, AI002968, AK131034, BC047722

Consensus CDS

CCDS33257.1

UniProtKB/Swiss-Prot

Q86WW8

UniProtKB/TrEMBL

B9A057

Related

ENSP00000330730.3, ENST00000328709.8

Conserved Domains (1) summary

pfam10203
Location:11 → 71

Pet191_N; Cytochrome c oxidase assembly protein PET191