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COX20 - cytochrome c oxidase assembly factor COX20 Gene

Also Known as FAM36A; MC4DN11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116228

About COX20

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,835,306-244,845,063 (from NCBI)

This gene has 5 transcripts (splice variants), 181 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 25.6), kidney (RPKM 25.6) and 25 other tissues.

Summary

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

COX20 Products (5)

mRNA	Protein	Name
NM_001312871.1	NP_001299800.1	cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1
NM_001312872.1	NP_001299801.1	cytochrome c oxidase assembly protein COX20, mitochondrial isoform 2
NM_001312873.1	NP_001299802.1	cytochrome c oxidase assembly protein COX20, mitochondrial isoform 3
NM_001312874.1	NP_001299803.1	cytochrome c oxidase assembly protein COX20, mitochondrial isoform 4
NM_198076.6	NP_932342.1	cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23125284	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	23125284	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	23125284	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

COX20 Protein Structure

DUF3767

0
100
118 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase assembly protein COX20, mitochondrial	COX20 Cox2 chaperone homolog

COX20 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	COX20	Q5RI15	JAGN1	Homo sapiens	Q8N5M9	Validated Y2H	32296183
Intra	COX20	Q5RI15	JAGN1	Homo sapiens	Q8N5M9	Y2H Array	32296183
Intra	COX20	Q5RI15	JAGN1	Homo sapiens	Q8N5M9	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	PGRMC2	Homo sapiens	O15173	Y2H Array	32296183
Intra	COX20	Q5RI15	PGRMC2	Homo sapiens	O15173	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	NCBP2AS2	Homo sapiens	Q69YL0	Validated Y2H	32296183
Intra	COX20	Q5RI15	TMEM35A	Homo sapiens	Q53FP2	Y2H Array	32296183
Intra	COX20	Q5RI15	TMEM35A	Homo sapiens	Q53FP2	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	MENT	Homo sapiens	Q9BUN1	Validated Y2H	32296183
Intra	COX20	Q5RI15	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	COX20	Q5RI15	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	CHIA	Homo sapiens	Q9BZP6	Validated Y2H	32296183
Intra	COX20	Q5RI15	GOLT1A	Homo sapiens	Q6ZVE7	Validated Y2H	32296183
Intra	COX20	Q5RI15	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Array	32296183
Intra	COX20	Q5RI15	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	COX20	Q5RI15	DYNC1H1	Homo sapiens	Q6P2H7	Validated Y2H	32296183
Intra	COX20	Q5RI15	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	COX20	Q5RI15	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	COX20	Q5RI15	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	COX20	Q5RI15	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	COX20	Q5RI15	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	COX20	Q5RI15	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	CREB3L1	Homo sapiens	Q96BA8	Validated Y2H	32296183
Intra	COX20	Q5RI15	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	COX20	Q5RI15	FUNDC2	Homo sapiens	Q9BWH2	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	FUNDC2	Homo sapiens	Q9BWH2	Validated Y2H	32296183
Intra	COX20	Q5RI15	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	COX20	Q5RI15	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	COX20	Q5RI15	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	MC4DN11 Mitochondrial Complex 4 Deficiency, Nuclear Type 11
Isolated Cytochrome C Oxidase Deficiency	Isolated Cox Deficiency Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
Axonal Neuropathy
Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Alternating Esotropia
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Hypotonia
Raynaud-Claes Syndrome	Mrx49 MRXSRC Mental Retardation, X-Linked 49 Mrx15 Clcn4-Related X-Linked Intellectual Disability Syndrome Mental Retardation, X-Linked 15 X-Linked Mental Retardation 15 X-Linked Mental Retardation 49 Mental Retardation, X-Linked-49
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03063	COX20 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COX20	VGNC	VGNC:27633
Felis catus	COX20	VGNC	VGNC:107864
Macaca mulatta	COX20	VGNC	VGNC:71595
Rattus norvegicus	COX20	RGD	RGD:1309105
Mus musculus	COX20	MGD	MGI:1913609
Others	COX20	NCBI