COX20 cytochrome c oxidase assembly factor COX20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX20provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor COX20provided by HGNC
Primary source: HGNC:HGNC:26970
See related: Ensembl:ENSG00000203667 MIM:614698; AllianceGenome:HGNC:26970
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: FAM36A; MC4DN11
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]
Expression: Ubiquitous expression in thyroid (RPKM 25.6), kidney (RPKM 25.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q44

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (244835306..244845063)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (244251611..244261368)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (244998608..245008365)

Chromosome 1 - NC_000001.11 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?

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.
Title: Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.
Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Title: Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Study reports on four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel COX20 variants. One variant affected the splice donor site of intron-one (c.41A>G), while the other variant (c.157+3G>C) affected the splice donor site of intron-two.
Title: Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
COX20 mutation are associated with autosomal recessive axonal neuropathy and static encephalopathy.
Title: Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.
data shows that by unbalancing the amount of TMEM177, newly synthesized COX2 accumulates in a COX20-associated state.
Title: The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.
COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Title: Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
This study deministrated that phenotypic spectrum of mutation in COX20 to a recessively inherited, early-onset dystonia-ataxia syndrome that is characterized by reduced complex IV activity.
Title: Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
The function of the human gene FAM36A/COX20 in complex IV assembly and role of the gene in complex IV deficiency.
Title: A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for intellectual disability (ID) and seizures.
Title: Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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 11 MedGen: C5436694 OMIM: 619054 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

SHGC-76622 (e-PCR)
- UniSTS:3868

RH48131 (e-PCR)
- UniSTS:77932

G59568 (e-PCR)
- UniSTS:136872

RH93746 (e-PCR)
- UniSTS:90591

RH91550 (e-PCR)
- UniSTS:83706

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 mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytochrome c oxidase assembly protein COX20, mitochondrial

Names: COX20 Cox2 chaperone homolog; COX20, cytochrome c oxidase assembly factor; cytochrome c oxidase protein 20 homolog; family with sequence similarity 36, member A

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_042825.1 RefSeqGene

Range

5353..14752

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001312871.1 → NP_001299800.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AK000866, DA164934, DA752002, EL947693

Consensus CDS

CCDS31080.1

UniProtKB/Swiss-Prot

Q5RI15, Q8WV86

UniProtKB/TrEMBL

B3KM21

Conserved Domains (1) summary

pfam12597
Location:14 → 98

DUF3767; Protein of unknown function (DUF3767)
NM_001312872.1 → NP_001299801.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a shorter 5' UTR and contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is longer than isoform 1.

Source sequence(s)

AK000866, BQ189361, DA157561, EL947693

Consensus CDS

CCDS81434.1

UniProtKB/TrEMBL

B3KM21

Related

ENSP00000355486.3, ENST00000366528.3

Conserved Domains (1) summary

pfam12597
Location:25 → 110

DUF3767; Protein of unknown function (DUF3767)
NM_001312873.1 → NP_001299802.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) has a shorter 5' UTR, lacks an exon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

BX323046

Conserved Domains (1) summary

pfam12597
Location:10 → 53

DUF3767; Protein of unknown function (DUF3767)
NM_001312874.1 → NP_001299803.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) has a shorter 5' UTR and uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a shorter, distinct C-terminus compared to isoform 1.

Source sequence(s)

AK000866, AK130498, DA157561, EL947693

UniProtKB/TrEMBL

B3KM21

Related

ENST00000498262.1

Conserved Domains (1) summary

pfam12597
Location:14 → 47

DUF3767; Protein of unknown function (DUF3767)
NM_198076.6 → NP_932342.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_932342.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AK000866, AK125259, EL947693

Consensus CDS

CCDS31080.1

UniProtKB/Swiss-Prot

Q5RI15, Q8WV86

UniProtKB/TrEMBL

B3KM21

Related

ENSP00000406327.2, ENST00000411948.7

Conserved Domains (1) summary

pfam12597
Location:14 → 98

DUF3767; Protein of unknown function (DUF3767)

RNA

NR_132419.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) has a shorter 5' terminal exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AK000866, AK300760, DA157561, EL947693
NR_132420.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) has a shorter 5' terminal exon and uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK000866, DA157561, DB189037, EL947693
NR_132421.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) has a shorter 5' terminal exon, uses alternate splice sites at two exons, and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

BX323046