CMC2 Gene (Protein Coding)

C-X9-C Motif Containing 2

GC16M080966
GIFtS:
33
See more...

Aliases for CMC2 Gene

Aliases for CMC2 Gene

  • C-X9-C Motif Containing 2 2 3 5
  • COX Assembly Mitochondrial Protein 2 Homolog 3 4
  • C-X(9)-C Motif Containing 2 2 3
  • C16orf61 3 4
  • DC13 2 3
  • COX Assembly Mitochondrial Protein 2 Homolog (S. Cerevisiae) 2
  • Chromosome 16 Open Reading Frame 61 2
  • 2310061C15Rik 3
  • MGC45036 2
  • CMC2 5

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 Capillary Malformations, Congenital and Malaria. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

UniProtKB/Swiss-Prot Summary for CMC2 Gene

Additional gene information for CMC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMC2 Gene

Genomics for CMC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CMC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CMC2

Genomic Locations for CMC2 Gene

Latest Assembly
chr16:80,966,448-81,020,270
(GRCh38/hg38)
Size:
53,823 bases
Orientation:
Minus strand

Previous Assembly
chr16:81,000,345-81,040,490
(GRCh37/hg19 by Entrez Gene)
Size:
40,146 bases
Orientation:
Minus strand

chr16:81,009,698-81,053,875
(GRCh37/hg19 by Ensembl)
Size:
44,178 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 Structure • Gene Density

RefSeq DNA sequence for CMC2 Gene

Proteins for CMC2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for CMC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CMC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CMC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMC2 Gene

Domains & Families for CMC2 Gene

Gene Families for CMC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CMC2 Gene

InterPro:
Blocks:
  • Protein of unknown function UPF0287
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NRP2

UniProtKB/Swiss-Prot:

COXM2_HUMAN :
  • Belongs to the CMC family.
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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CMC2 Gene

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

Phenotypes From GWAS Catalog for CMC2 Gene

Gene Ontology (GO) - Molecular Function for CMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with CMC2: view
genes like me logo Genes that share phenotypes with CMC2: view

Animal Models for research

miRNA for CMC2 Gene

miRTarBase miRNAs that target CMC2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMC2

No data available for Enzyme Numbers (IUBMB) , 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
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 3
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CMC2 Gene

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

Pathways & Interactions for CMC2 Gene

PathCards logo

SuperPathways 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

Gene Ontology (GO) - Biological Process for CMC2 Gene

None

No data available for SIGNOR curated interactions for CMC2 Gene

Drugs & Compounds for CMC2 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CMC2 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CMC2 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMC2

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

Expression for CMC2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for CMC2 Gene
mRNA expression by BioGPS for CMC2 GenemRNA expression by GTEx for CMC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)
  • Liver (Hepatobiliary System)

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, MaxQB, and MOPED for CMC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CMC2

SOURCE GeneReport for Unigene cluster for CMC2 Gene:

Hs.55028

Evidence on tissue expression from TISSUES for CMC2 Gene

  • Spleen(4.4)
  • Blood(4.4)
  • Lymph node(4.4)
  • Heart(2.8)
  • Nervous system(2.8)
  • Kidney(2.3)
  • Liver(2.2)
  • Muscle(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with CMC2: view

No data available for 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
Chimpanzee
(Pan troglodytes)
 Mammalia CMC2 30 31
  • 99.16 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CMC2 30 31 31
  • 93.59 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia CMC2 31
  • 89 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cmc2 30
  • 87.34 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 86 (a)
 OneToMany
-- 31
  • 74 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Cmc2 30 17 31
  • 81.01 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves C16ORF61 30 31
  • 71.11 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CMC2 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cmc2 30
  • 62.82 (n)
Str.29 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10954 30
Zebrafish
(Danio rerio)
 Actinopterygii cmc2 30 31
  • 59.21 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG42375 31
  • 39 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea C35D10.17 31
  • 26 (a)
 OneToOne
Species where no ortholog for CMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CMC2: view image

Paralogs for CMC2 Gene

Pseudogenes.org Pseudogenes 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

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CMC2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs2303217 - p.Thr11Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CMC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CMC2 Gene

Human Gene Mutation Database (HGMD)
CMC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMC2

SNP Genotyping and Copy Number Assays for research

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

Disorders for CMC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CMC2 Gene - From: COP

Disorder Aliases PubMed IDs
capillary malformations, congenital
  • cmc
malaria
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CMC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CMC2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  5. Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II. (PMID: 30349055) Li Y … Lu X (Nature communications 2018) 3

ExternalLinks

View latest publications for CMC2 gene in Mastermind

Products for CMC2 Gene

Sources for CMC2 Gene