COA4 - cytochrome c oxidase assembly factor 4 homolog Gene

Homo sapiens

Also known as CMC3; E2IG2; CHCHD8

Gene ID: 51287 | Gene type: protein coding

About COA4

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,872,667-73,876,846 (from NCBI)

This gene has 6 transcripts (splice variants) and 148 orthologues. Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues.

Summary

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

COA4 Products(1)

mRNA	Protein	Name
NM_016565.3	NP_057649.2	cytochrome c oxidase assembly factor 4 homolog, mitochondrial

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	23676665	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COA4 Protein Structure

CHCH

0
87 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly factor 4 homolog, mitochondrial

E2-induced gene 2 protein

Related Diseases

Diseases

Alias

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70254	Tricosanoyl-CoA triammonium		/	Unkown
HY-RS02941	COA4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COA4	MGD	MGI:1915435
Rattus norvegicus	COA4	RGD	RGD:1562228
Felis catus	COA4	VGNC	VGNC:61042
Bos taurus	COA4	VGNC	VGNC:106696
Macaca mulatta	COA4	VGNC	VGNC:71340

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