COPS9 Gene (Protein Coding)

COP9 Signalosome Subunit 9

GC02M240127
GIFtS:
24
See more...

Aliases for COPS9 Gene

Aliases for COPS9 Gene

  • COP9 Signalosome Subunit 9 2 3 5
  • CSN Acidic Protein 2 3 4
  • CSNAP 2 3 4
  • Myeloma-Overexpressed Gene 2 Protein 3 4
  • COP9 Signalosome Complex Subunit 9 3 4
  • Myeloma Overexpressed 2 2 3
  • MYEOV2 3 4
  • Helicase/Primase Complex Protein 3
  • COPS9 5

External Ids for COPS9 Gene

Previous HGNC Symbols for COPS9 Gene

  • MYEOV2

Summaries for COPS9 Gene

GeneCards Summary for COPS9 Gene

COPS9 (COP9 Signalosome Subunit 9) is a Protein Coding gene. Diseases associated with COPS9 include Balo Concentric Sclerosis and Photoparoxysmal Response 1.

UniProtKB/Swiss-Prot Summary for COPS9 Gene

  • [Isoform 1]: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Plays a role in cell proliferation.
  • [Isoform 2]: Negatively regulates neddylation of proteins, including ribosoaml protein RPL11.

Additional gene information for COPS9 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COPS9 Gene

Genomics for COPS9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COPS9 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J240134 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 255.7 +1.0 1006 3.2 TBP NR2C1 MNT SMAD5 ETS1 MBD2 POLR2A ELF1 ZIC2 THAP11 COPS9 lnc-OTOS-2 ANKMY1 CAPN10 OR6B3 NDUFA10 OR5S1P
GH02J240583 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -449.2 -449241 5.1 CHD2 TBP ZBTB10 SP1 BCL11A MXD4 CEBPA SIX5 NR2C1 MNT CAPN10 CAPN10-DT lnc-ANKMY1-4 piR-40197 ANKMY1 ENSG00000223374 GPR35 OTOS COPS9 KIF1A
GH02J240194 Enhancer 0.6 Ensembl 10.7 -57.9 -57893 1 CEBPA CTCF ZNF2 RAD21 GLIS1 NR2F6 CEBPG CEBPB ZNF140 TRIM28 ENSG00000286183 MTERF4 COPS9 GPC1 ANKMY1 NDUFA10 LOC107985836 OTOS
GH02J240170 Enhancer 0.4 Ensembl 11.4 -33.7 -33695 0.6 BHLHE40 FOXA1 KLF9 OTOS COPS9 FR772910-004 ENSG00000286325 GPC1
GH02J240200 Enhancer 0.3 Ensembl ENCODE 10.7 -64.3 -64294 2.2 COPS9 GPC1 NDUFA10 ENSG00000286183 LOC107985836 OTOS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COPS9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COPS9

Genomic Locations for COPS9 Gene

Latest Assembly
chr2:240,126,548-240,136,807
(GRCh38/hg38)
Size:
10,260 bases
Orientation:
Minus strand

Previous Assembly
chr2:241,065,980-241,075,764
(GRCh37/hg19 by Entrez Gene)
Size:
9,785 bases
Orientation:
Minus strand

chr2:241,065,980-241,076,224
(GRCh37/hg19 by Ensembl)
Size:
10,245 bases
Orientation:
Minus strand

Genomic View for COPS9 Gene

Genes around COPS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COPS9 Gene

Proteins for COPS9 Gene

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  • Protein details for COPS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXC6-CSN9_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 9
    Protein Accession:
    Q8WXC6
    Secondary Accessions:
    • Q8N110

    Protein attributes for COPS9 Gene

    Size:
    57 amino acids
    Molecular mass:
    6211 Da
    Quaternary structure:
    • Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1. In the complex, it interacts directly with COPS3, COPS5 and COPS6 (PubMed:26456823). Isoform 2 associates with CSN complex (PubMed:23776465). Isoform 2 interacts with COPS5, CUL1, CUL3 and RPL11 (PubMed:23776465). According to PubMed:26456823, does not associate with CSN complex.

    Alternative splice isoforms for COPS9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPS9 Gene

Post-translational modifications for COPS9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COPS9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COPS9 Gene

Domains & Families for COPS9 Gene

Gene Families for COPS9 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for COPS9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COPS9 Gene

GenScript: Design optimal peptide antigens:
  • Myeloma-overexpressed gene 2 protein (MYOV2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXC6

UniProtKB/Swiss-Prot:

CSN9_HUMAN :
  • [Isoform 1]: The Phe/Asp-rich domain at the C-terminus is necessary for its incorporation into the CSN complex.
  • Belongs to the CSN9 family.
Domain:
  • [Isoform 1]: The Phe/Asp-rich domain at the C-terminus is necessary for its incorporation into the CSN complex.
  • [Isoform 2]: Amino acids 60-89 in isoform 2 are necessary for interaction with COPS5, CUL1, CUL3.
Family:
  • Belongs to the CSN9 family.
genes like me logo Genes that share domains with COPS9: view

Function for COPS9 Gene

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  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 COPS9 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Plays a role in cell proliferation.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Negatively regulates neddylation of proteins, including ribosoaml protein RPL11.

Phenotypes From GWAS Catalog for COPS9 Gene

Gene Ontology (GO) - Molecular Function for COPS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26456823
genes like me logo Genes that share ontologies with COPS9: view
genes like me logo Genes that share phenotypes with COPS9: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COPS9 Gene

Localization for COPS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS9 Gene

[Isoform 1]: Nucleus. Cytoplasm. Nucleus, nucleoplasm. Note=Excluded from the nucleolus. Recruited to the nucleoplasm and chromatin following DNA damage induction. {ECO:0000269 PubMed:26456823}.
[Isoform 2]: Nucleus, nucleoplasm. Note=Excluded from the nucleolus. {ECO:0000269 PubMed:23776465}.

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 COPS9 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COPS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 26456823
GO:0005634 nucleus IEA,IDA 26456823
GO:0005654 nucleoplasm IEA,IDA 23776465
GO:0005737 cytoplasm IEA,IDA 26456823
GO:0008180 COP9 signalosome IBA,IDA 26456823
genes like me logo Genes that share ontologies with COPS9: view

Pathways & Interactions for COPS9 Gene

PathCards logo

SuperPathways for COPS9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for COPS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IMP 26456823
GO:0034644 cellular response to UV IDA 26456823
GO:0051220 cytoplasmic sequestering of protein IMP --
GO:2000435 negative regulation of protein neddylation IBA 21873635
genes like me logo Genes that share ontologies with COPS9: view

No data available for Pathways by source and SIGNOR curated interactions for COPS9 Gene

Drugs & Compounds for COPS9 Gene

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No Compound Related Data Available

Transcripts for COPS9 Gene

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

mRNA/cDNA for COPS9 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 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 COPS9

Alternative Splicing Database (ASD) splice patterns (SP) for COPS9 Gene

No ASD Table

Relevant External Links for COPS9 Gene

GeneLoc Exon Structure for
COPS9

Expression for COPS9 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COPS9

Evidence on tissue expression from TISSUES for COPS9 Gene

  • Liver(4.3)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS9 Gene

Orthologs for COPS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for COPS9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYEOV2 30 31
  • 98.83 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYEOV2 30 31
  • 94.15 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYEOV2 30 31
  • 93.57 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Myeov2 30 31
  • 90.64 (n)
 OneToOne
Cops9 17
Rat
(Rattus norvegicus)
 Mammalia Myeov2 30
  • 89.47 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MYEOV2 31
  • 48 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYEOV2 30 31
  • 87.13 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYEOV2 31
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myeov2 30
  • 83.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii myeov2 31
  • 95 (a)
 OneToOne
zgc77808 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG17059 31
  • 46 (a)
 OneToOne
Species where no ortholog for COPS9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for COPS9 Gene

ENSEMBL:
Gene Tree for COPS9 (if available)
TreeFam:
Gene Tree for COPS9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPS9: view image

Paralogs for COPS9 Gene

Pseudogenes.org Pseudogenes for COPS9 Gene

genes like me logo Genes that share paralogs with COPS9: view

No data available for Paralogs for COPS9 Gene

Variants for COPS9 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COPS9 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 COPS9 Gene

Variant ID Type Subtype PubMed ID
nsv997288 CNV gain 25217958

Variation tolerance for COPS9 Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPS9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COPS9 Gene

Disorders for COPS9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COPS9 Gene - From: COP

Disorder Aliases PubMed IDs
balo concentric sclerosis
  • balo disease
photoparoxysmal response 1
  • ppr1
- elite association - COSMIC cancer census association via MalaCards
Search COPS9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COPS9

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 COPS9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS9 Gene

Publications for COPS9 Gene

  1. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. (PMID: 26456823) Rozen S … Sharon M (Cell reports 2015) 2 3 4
  2. Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification. (PMID: 23776465) Ebina M … Chiba T (PloS one 2013) 2 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Structural dynamics of the human COP9 signalosome revealed by cross-linking mass spectrometry and integrative modeling. (PMID: 32034103) Gutierrez C … Huang L (Proceedings of the National Academy of Sciences of the United States of America 2020) 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 COPS9 gene in Mastermind

Products for COPS9 Gene

Sources for COPS9 Gene