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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.

No data available for Entrez Gene 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
GH16F081003 0.6 ENCODE 8 +14.1 14113 5.6 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ATMIN ENSG00000260213 CMC2 CENPN GCSH ENSG00000278985
GH16F080991 1.3 FANTOM5 Ensembl ENCODE 6.2 +27.3 27280 3.9 TBP CBX3 TBL1XR1 RARA RFX5 YY1 ZNF121 GATA2 RCOR1 FOS ENSG00000260213 ATMIN CENPN CMC2 ENSG00000278985
GH16F080996 0.7 ENCODE 6.2 +22.8 22794 2.0 ELF3 PKNOX1 ATF1 INSM2 ARID4B FEZF1 THRB ZNF2 RARA YY1 ENSG00000260213 CMC2 CENPN ENSG00000278985
GH16F081598 1.1 FANTOM5 Ensembl ENCODE 5.9 -580.5 -580546 4.7 HDGF ATF1 PKNOX1 CREB3L1 SIN3A FEZF1 ZNF48 ZNF121 ZNF766 FOS CMC2 ENSG00000260495 GAN MIR6504 MIR7854
GH16F081591 0.5 ENCODE 5.2 -572.2 -572191 2.5 HDGF PKNOX1 ARNT MLX ARID4B DMAP1 ZNF766 FOS SP5 JUNB CMIP CMC2 MIR6504 MIR7854
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CMC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CMC2 Gene

Chromosome:
16
Start:
80,966,448 bp from pter
End:
81,020,270 bp from pter
Size:
53,823 bases
Orientation:
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:
    Q9NRP2-COXM2_HUMAN
    Recommended name:
    COX assembly mitochondrial protein 2 homolog
    Protein Accession:
    Q9NRP2
    Secondary Accessions:
    • D3DUK6

    Protein attributes for CMC2 Gene

    Size:
    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

Protein Domains for CMC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRP2

UniProtKB/Swiss-Prot:

COXM2_HUMAN :
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
  • Belongs to the CMC family.
Domain:
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
Family:
  • Belongs to the CMC family.
genes like me logo Genes that share domains with CMC2: view

No data available for Gene Families and 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.
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

Clone Products

Flow Cytometry 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CMC2 Gene COMPARTMENTS Subcellular localization image for CMC2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 2
nucleus 1

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 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000219400%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000418348%0d%0a9606.ENSP00000297151%0d%0a
Selected Interacting proteins: ENSP00000219400 Q9NRP2-COXM2_HUMAN for CMC2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CMC2 Gene

None

No data available for SIGNOR curated interactions for CMC2 Gene

Transcripts for CMC2 Gene

Unigene Clusters for CMC2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - -
SP2:
SP3: - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - -
SP8: - - - - - -

Relevant External Links for CMC2 Gene

GeneLoc Exon Structure for
CMC2
ECgene alternative splicing isoforms for
CMC2

Expression for CMC2 Gene

mRNA expression in normal human tissues 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:

CMC2

SOURCE GeneReport for Unigene cluster for CMC2 Gene:

Hs.55028
genes like me logo Genes that share expression patterns with CMC2: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CMC2 34 35
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia CMC2 34 35 35
  • 93.59 (n)
dog
(Canis familiaris)
Mammalia CMC2 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cmc2 34
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cmc2 34 16 35
  • 81.01 (n)
chicken
(Gallus gallus)
Aves C16ORF61 34 35
  • 71.11 (n)
lizard
(Anolis carolinensis)
Reptilia CMC2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cmc2 34
  • 62.82 (n)
Str.29 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10954 34
zebrafish
(Danio rerio)
Actinopterygii cmc2 34 35
  • 59.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42375 35
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C35D10.17 35
  • 26 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CMC2 (if available)
TreeFam:
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
rs10163450 -- 81,000,079(+) tatga(A/C)tagaa intron-variant
rs10492891 -- 80,979,447(+) TCTAA(C/T)TGACA intron-variant
rs10668355 -- 81,005,490(+) TATTA(-/GTTA)AAGAA intron-variant, upstream-variant-2KB
rs111232830 -- 81,005,375(+) CCACT(A/G)CACTC intron-variant, upstream-variant-2KB
rs111255338 -- 80,981,682(+) CATAC(A/G)TGTAA intron-variant

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

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

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)
CMC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMC2

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: 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:
CMC2
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. (J. Biol. Chem. 2010) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  5. Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility. (PMID: 21424380) Sehrawat B. … Damaraju S. (Hum. Genet. 2011) 3 64

Products for CMC2 Gene

Sources for CMC2 Gene

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