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

Gene ID: 116228, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244892764-244893500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244893501-244894238 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 Neighboring gene chromosome 1 open reading frame 202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:244923887-244924533 Neighboring gene uncharacterized LOC107985372 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244972422-244972922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2844 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244978837-244979663 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244979664-244980490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:244996871-244997630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2020 Neighboring gene small nucleolar RNA, H/ACA box 100 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:245027219-245028050 Neighboring gene UPF0764 protein C16orf89-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:245028051-245028881 Neighboring gene heterogeneous nuclear ribonucleoprotein U Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:245031973-245032572 Neighboring gene MPRA-validated peak809 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. Dong HL, et al. Brain, 2021 Sep 4. PMID 33751098
  2. Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy. Xu H, et al. Hum Genet, 2019 Jul. PMID 31079202
  3. Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. Otero MG, et al. Ann Clin Transl Neurol, 2019 Jan. PMID 30656193, Free PMC Article
  4. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. Doss S, et al. J Neurol, 2014 Jan. PMID 24202787
  5. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Thierry G, et al. Am J Med Genet A, 2012 Jul. PMID 22678713

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43269

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

  1. NG_042825.1 RefSeqGene

    Range
    5353..14752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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

  1. 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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    244835306..244845063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    244251611..244261368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334163.1 → XP_054190138.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5RI15.2 GenPept UniProtKB/Swiss-Prot:Q5RI15

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