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    CMC2 C-X9-C motif containing 2 [ Homo sapiens (human) ]

    Gene ID: 56942, updated on 5-Mar-2024

    Summary

    Official Symbol
    CMC2provided by HGNC
    Official Full Name
    C-X9-C motif containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24447
    See related
    Ensembl:ENSG00000103121 AllianceGenome:HGNC:24447
    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
    DC13; C16orf61; 2310061C15Rik
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 22.1), heart (RPKM 16.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    16q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (80966448..81006885, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87028306..87068420, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81000345..81040490, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:80641586-80642086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:80642087-80642587 Neighboring gene chromodomain Y like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11170 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:80700312-80701272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:80760822-80761322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:80761323-80761823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7747 Neighboring gene androgen receptor regulated long noncoding RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11172 Neighboring gene Sharpr-MPRA regulatory region 7727 Neighboring gene NANOG hESC enhancer GRCh37_chr16:81032399-81032965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11175 Neighboring gene CENPN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7750 Neighboring gene centromere protein N Neighboring gene ATM interactor

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    COX assembly mitochondrial protein 2 homolog
    Names
    C-x(9)-C motif containing 2

    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_001351967.2NP_001338896.1  COX assembly mitochondrial protein 2 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718
      Consensus CDS
      CCDS10930.1
      UniProtKB/Swiss-Prot
      D3DUK6, Q9NRP2
      Related
      ENSP00000455723.1, ENST00000565914.5
      Conserved Domains (1) summary
      pfam08583
      Location:170
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
    2. NM_001351968.2NP_001338897.1  COX assembly mitochondrial protein 2 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, DN989742
      Consensus CDS
      CCDS10930.1
      UniProtKB/Swiss-Prot
      D3DUK6, Q9NRP2
      Related
      ENSP00000455457.2, ENST00000565650.5
      Conserved Domains (1) summary
      pfam08583
      Location:170
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
    3. NM_001351970.2NP_001338899.1  COX assembly mitochondrial protein 2 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, AF201935, BM314575
      Consensus CDS
      CCDS10930.1
      UniProtKB/Swiss-Prot
      D3DUK6, Q9NRP2
      Conserved Domains (1) summary
      pfam08583
      Location:170
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
    4. NM_001351973.2NP_001338902.1  COX assembly mitochondrial protein 2 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718
      Conserved Domains (1) summary
      pfam08583
      Location:35104
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like
    5. NM_020188.5NP_064573.1  COX assembly mitochondrial protein 2 homolog isoform 1

      See identical proteins and their annotated locations for NP_064573.1

      Status: VALIDATED

      Source sequence(s)
      AC009079, BC032631, HY000186
      Consensus CDS
      CCDS10930.1
      UniProtKB/Swiss-Prot
      D3DUK6, Q9NRP2
      Related
      ENSP00000219400.3, ENST00000219400.8
      Conserved Domains (1) summary
      pfam08583
      Location:170
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    RNA

    1. NR_147838.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, KF570268
    2. NR_147839.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718
    3. NR_147840.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, KF570268
    4. NR_147841.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, AI038286, CD105314
    5. NR_147842.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, AF201935, BU601437
    6. NR_147843.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718, AF201935, CD105314

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      80966448..81006885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791800.1 Reference GRCh38.p14 PATCHES

      Range
      14687..55124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      87028306..87068420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)