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    C2orf69 chromosome 2 open reading frame 69 [ Homo sapiens (human) ]

    Gene ID: 205327, updated on 5-Mar-2024

    Summary

    Official Symbol
    C2orf69provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 69provided by HGNC
    Primary source
    HGNC:HGNC:26799
    See related
    Ensembl:ENSG00000178074 MIM:619219; AllianceGenome:HGNC:26799
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COXPD53
    Summary
    Involved in oxidative phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See C2orf69 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (199911293..199928273)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200394882..200411904)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (200776016..200792996)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene formiminotransferase cyclodeaminase N-terminal like Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:200715807-200716381 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:200734297-200735022 Neighboring gene uncharacterized LOC101927687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:200786527-200787028 Neighboring gene RNA, 7SL, cytoplasmic 717, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:200819858-200821057 Neighboring gene uncharacterized LOC124906112 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:200844585-200845115 Neighboring gene tRNA-yW synthesizing protein 5 Neighboring gene matrix AAA peptidase interacting protein 1 Neighboring gene uncharacterized LOC124907962 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:200874708-200874865

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 53
    MedGen: C5543631 OMIM: 619423 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38973

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in respirasome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mitochondrial protein C2orf69
    Names
    UPF0565 protein C2orf69

    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.

    mRNA and Protein(s)

    1. NM_153689.6NP_710156.3  mitochondrial protein C2orf69 precursor

      See identical proteins and their annotated locations for NP_710156.3

      Status: VALIDATED

      Source sequence(s)
      AC097717
      Consensus CDS
      CCDS46482.1
      UniProtKB/Swiss-Prot
      Q8N8R5, Q8NE30
      Related
      ENSP00000312770.5, ENST00000319974.6
      Conserved Domains (1) summary
      pfam10561
      Location:56361
      UPF0565; Uncharacterized protein family UPF0565

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      199911293..199928273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      200394882..200411904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)