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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
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Genomic context

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See CMC2 in Genome Data Viewer
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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