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Aliases for CMC2 Gene

Aliases for CMC2 Gene

  • C-X9-C Motif Containing 2 2 3 5
  • C-X(9)-C Motif Containing 2 2 3
  • C16orf61 3 4
  • COX Assembly Mitochondrial Protein 2 Homolog (S. Cerevisiae) 2
  • COX Assembly Mitochondrial Protein 2 Homolog 3
  • Chromosome 16 Open Reading Frame 61 2
  • 2310061C15Rik 3
  • DC13 3

External Ids for CMC2 Gene

Previous HGNC Symbols for CMC2 Gene

  • C16orf61

Previous GeneCards Identifiers for CMC2 Gene

  • GC16M081010

Summaries for CMC2 Gene

GeneCards Summary for CMC2 Gene

CMC2 (C-X9-C Motif Containing 2) is a Protein Coding gene. Diseases associated with CMC2 include Neonatal Anemia. Among its related pathways are Mitochondrial protein import and Metabolism of proteins.

UniProtKB/Swiss-Prot for CMC2 Gene

  • May be involved in cytochrome c oxidase biogenesis.

Additional gene information for CMC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMC2 Gene

Genomics for CMC2 Gene

Regulatory Elements for CMC2 Gene

Enhancers for CMC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H081003 1.4 ENCODE dbSUPER 8 +14.1 14113 5.6 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D GLIS1 RCOR2 NBN ENSG00000260213 ATMIN CMC2 CENPN GCSH ENSG00000278985
GH16H080991 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.2 +27.3 27280 3.9 ATF1 FOXA2 ARNT YY1 TCF12 ZNF121 GATA2 FOS DEK NFIL3 ENSG00000260213 ATMIN CENPN CMC2 ENSG00000278985
GH16H081598 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -580.5 -580546 4.7 PKNOX1 NFIB SAP130 INSM2 SIN3A FEZF1 ZIC2 RAD21 TEAD3 ZNF121 CMC2 ENSG00000260495 GAN MIR6504 MIR7854
GH16H080996 1.2 ENCODE dbSUPER 6.2 +22.8 22794 2 PKNOX1 ATF1 ARID4B FEZF1 ZNF2 YY1 ZNF121 ATF7 PPARG KAT8 ENSG00000260213 CMC2 CENPN ENSG00000278985
GH16H081591 1.2 ENCODE dbSUPER 5.2 -572.2 -572191 2.5 ELF3 MLX ARID4B DMAP1 ZBTB40 RAD21 RARA CREM MIXL1 THAP11 CMIP CMC2 MIR6504 MIR7854
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CMC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CMC2 Gene

Genomic Locations for CMC2 Gene
53,823 bases
Minus strand

Genomic View for CMC2 Gene

Genes around CMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMC2 Gene

Proteins for CMC2 Gene

  • Protein details for CMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    COX assembly mitochondrial protein 2 homolog
    Protein Accession:
    Secondary Accessions:
    • D3DUK6

    Protein attributes for CMC2 Gene

    79 amino acids
    Molecular mass:
    9460 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CMC2 Gene

Post-translational modifications for CMC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CMC2 Gene

Domains & Families for CMC2 Gene

Gene Families for CMC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CMC2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CMC family.
  • Belongs to the CMC family.
genes like me logo Genes that share domains with CMC2: view

No data available for Suggested Antigen Peptide Sequences for CMC2 Gene

Function for CMC2 Gene

Molecular function for CMC2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cytochrome c oxidase biogenesis.

Phenotypes From GWAS Catalog for CMC2 Gene

genes like me logo Genes that share phenotypes with CMC2: view

Animal Model Products

miRNA for CMC2 Gene

miRTarBase miRNAs that target CMC2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMC2 Gene

Localization for CMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMC2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMC2 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20220131
genes like me logo Genes that share ontologies with CMC2: view

Pathways & Interactions for CMC2 Gene

genes like me logo Genes that share pathways with CMC2: view

Pathways by source for CMC2 Gene

2 Reactome pathways for CMC2 Gene

Interacting Proteins for CMC2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
Selected Interacting proteins: ENSP00000219400 Q9NRP2-COXM2_HUMAN for CMC2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CMC2 Gene


No data available for SIGNOR curated interactions for CMC2 Gene

Drugs & Compounds for CMC2 Gene

No Compound Related Data Available

Transcripts for CMC2 Gene

Unigene Clusters for CMC2 Gene

COX assembly mitochondrial protein 2 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CMC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - -
SP8: - - - - - -

Relevant External Links for CMC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CMC2 Gene

Protein differential expression in normal tissues from HIPED for CMC2 Gene

This gene is overexpressed in Plasma (24.1) and Liver (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CMC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CMC2 Gene:


SOURCE GeneReport for Unigene cluster for CMC2 Gene:


Evidence on tissue expression from TISSUES for CMC2 Gene

  • Blood(4.3)
  • Lymph node(4.3)
  • Spleen(4.3)
  • Nervous system(2.3)
  • Heart(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with CMC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMC2 Gene

Orthologs for CMC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CMC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CMC2 33 34
  • 99.16 (n)
(Bos Taurus)
Mammalia CMC2 33 34 34
  • 93.59 (n)
(Canis familiaris)
Mammalia CMC2 34
  • 89 (a)
(Rattus norvegicus)
Mammalia Cmc2 33
  • 87.34 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
-- 34
  • 74 (a)
(Mus musculus)
Mammalia Cmc2 33 16 34
  • 81.01 (n)
(Gallus gallus)
Aves C16ORF61 33 34
  • 71.11 (n)
(Anolis carolinensis)
Reptilia CMC2 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cmc2 33
  • 62.82 (n)
Str.29 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10954 33
(Danio rerio)
Actinopterygii cmc2 33 34
  • 59.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42375 34
  • 39 (a)
(Caenorhabditis elegans)
Secernentea C35D10.17 34
  • 26 (a)
Species where no ortholog for CMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CMC2 Gene

Gene Tree for CMC2 (if available)
Gene Tree for CMC2 (if available)

Paralogs for CMC2 Gene

genes like me logo Genes that share paralogs with CMC2: view

No data available for Paralogs for CMC2 Gene

Variants for CMC2 Gene

Sequence variations from dbSNP and Humsavar for CMC2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000017223 -- 80,995,754(+) TACCT(C/G)GGCAA intron-variant
rs1000069896 -- 80,976,983(+) GAATA(C/T)AGTGC intron-variant
rs1000176981 -- 81,007,757(+) TCCAC(A/G)GATCT intron-variant, upstream-variant-2KB
rs1000212634 -- 80,979,214(+) GATTA(C/G)TGATG intron-variant
rs1000264389 -- 81,003,806(+) GTATT(A/T)GTCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CMC2 Gene

Variant ID Type Subtype PubMed ID
nsv817744 CNV loss 17921354
nsv573338 CNV loss 21841781
nsv573337 CNV loss 21841781
nsv1061745 CNV loss 25217958
esv3639306 CNV gain 21293372
esv3639305 CNV loss 21293372
esv3639304 CNV gain 21293372
esv3639303 CNV loss 21293372
esv28134 CNV loss 19812545
esv2758663 CNV gain+loss 17122850

Variation tolerance for CMC2 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CMC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMC2 Gene

Disorders for CMC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CMC2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
neonatal anemia
  • anemia neonatal
- elite association - COSMIC cancer census association via MalaCards
Search CMC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CMC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CMC2 Gene

Publications for CMC2 Gene

  1. The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis. (PMID: 20220131) Horn D … Barrientos A (The Journal of biological chemistry 2010) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 60
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 60
  5. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. (PMID: 21424380) Sehrawat B … Damaraju S (Human genetics 2011) 3 60

Products for CMC2 Gene

Sources for CMC2 Gene

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