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

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. Sehrawat B, et al. Hum Genet, 2011 Oct. PMID 21424380, Free PMC Article
    2. The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis. Horn D, et al. J Biol Chem, 2010 May 14. PMID 20220131, Free PMC Article
    3. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. Dastani Z, et al. Eur J Hum Genet, 2010 Mar. PMID 19844255, Free PMC Article
    4. Proteomic dissection of the von Hippel-Lindau (VHL) interactome. Lai Y, et al. J Proteome Res, 2011 Nov 4. PMID 21942715, Free PMC Article
    5. Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II. Li Y, et al. Nat Commun, 2018 Oct 22. PMID 30349055, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single nucleotide polymorphisms in C16orf61 gene is associated with breast cancer.
      Title: Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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.

    mRNA and Protein(s)

    1. NM_001351967.2 → NP_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:1 → 70
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    2. NM_001351968.2 → NP_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:1 → 70
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    3. NM_001351970.2 → NP_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:1 → 70
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    4. NM_001351973.2 → NP_001338902.1  COX assembly mitochondrial protein 2 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009079, AC092718
      Conserved Domains (1) summary
      pfam08583
      Location:35 → 104
      Cmc1; Cytochrome c oxidase biogenesis protein Cmc1 like

    5. NM_020188.5 → NP_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:1 → 70
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRP2.1 GenPept UniProtKB/Swiss-Prot:Q9NRP2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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