U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 116228, updated on 1-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COX20 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001312871.1NP_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:1498
      DUF3767; Protein of unknown function (DUF3767)
    2. NM_001312872.1NP_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:25110
      DUF3767; Protein of unknown function (DUF3767)
    3. NM_001312873.1NP_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:1053
      DUF3767; Protein of unknown function (DUF3767)
    4. NM_001312874.1NP_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:1447
      DUF3767; Protein of unknown function (DUF3767)
    5. NM_198076.6NP_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:1498
      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_054334163.1XP_054190138.1  cytochrome c oxidase assembly protein COX20, mitochondrial isoform X1