Aliases for COPS7B Gene

Aliases for COPS7B Gene

  • COP9 Signalosome Subunit 7B 2 3 5
  • CSN7B 2 3 4
  • JAB1-Containing Signalosome Subunit 7b 3 4
  • COP9 Signalosome Complex Subunit 7b 3 4
  • Signalosome Subunit 7b 3 4
  • SGN7b 3 4
  • COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 7B 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 7B (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 7B 3
  • COPS7B 5

External Ids for COPS7B Gene

Previous GeneCards Identifiers for COPS7B Gene

  • GC02P230710
  • GC02P231382
  • GC02P232610
  • GC02P232853
  • GC02P232476
  • GC02P232359
  • GC02P232646
  • GC02P224495

Summaries for COPS7B Gene

GeneCards Summary for COPS7B Gene

COPS7B (COP9 Signalosome Subunit 7B) is a Protein Coding gene. Diseases associated with COPS7B include Acromesomelic Dysplasia, Maroteaux Type and Acromesomelic Dysplasia. Among its related pathways are Clathrin-mediated endocytosis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). An important paralog of this gene is COPS7A.

UniProtKB/Swiss-Prot Summary for COPS7B Gene

  • 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, JUN, I-kappa-B-alpha/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.

Gene Wiki entry for COPS7B Gene

Additional gene information for COPS7B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COPS7B Gene

Genomics for COPS7B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COPS7B 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 COPS7B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COPS7B

Top Transcription factor binding sites by QIAGEN in the COPS7B gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • POU2F1a

Genomic Locations for COPS7B Gene

Genomic Locations for COPS7B Gene
chr2:231,781,671-231,809,254
(GRCh38/hg38)
Size:
27,584 bases
Orientation:
Plus strand
chr2:232,646,381-232,673,963
(GRCh37/hg19)
Size:
27,583 bases
Orientation:
Plus strand

Genomic View for COPS7B Gene

Genes around COPS7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS7B Gene

Proteins for COPS7B Gene

  • Protein details for COPS7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9Q2-CSN7B_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 7b
    Protein Accession:
    Q9H9Q2
    Secondary Accessions:
    • Q53S22
    • Q5BJG3
    • Q9H7V6

    Protein attributes for COPS7B Gene

    Size:
    264 amino acids
    Molecular mass:
    29622 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 (PubMed:11337588, PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS1, COPS2, COPS4, COPS5, COPS6 and COPS8 (PubMed:11337588, PubMed:18850735). Interacts with EIF3S6 (PubMed:12220626).
    • (Microbial infection) Interacts with vaccinia virus protein C9L.

    Three dimensional structures from OCA and Proteopedia for COPS7B Gene

    Alternative splice isoforms for COPS7B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPS7B Gene

Post-translational modifications for COPS7B Gene

  • Ubiquitination at Lys118, Lys217, and Lys221
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COPS7B Gene

Domains & Families for COPS7B Gene

Gene Families for COPS7B Gene

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

Protein Domains for COPS7B Gene

InterPro:
Blocks:
  • Domain in components of the proteasome, COP9-complex and eIF3 (PCI)
ProtoNet:

Suggested Antigen Peptide Sequences for COPS7B Gene

GenScript: Design optimal peptide antigens:
  • JAB1-containing signalosome subunit 7b (CSN7B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9Q2

UniProtKB/Swiss-Prot:

CSN7B_HUMAN :
  • Belongs to the CSN7/EIF3M family. CSN7 subfamily.
Family:
  • Belongs to the CSN7/EIF3M family. CSN7 subfamily.
genes like me logo Genes that share domains with COPS7B: view

Function for COPS7B Gene

Molecular function for COPS7B Gene

UniProtKB/Swiss-Prot Function:
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, JUN, I-kappa-B-alpha/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.

Phenotypes From GWAS Catalog for COPS7B Gene

Gene Ontology (GO) - Molecular Function for COPS7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COPS7B: view
genes like me logo Genes that share phenotypes with COPS7B: view

Animal Model Products

CRISPR Products

miRNA for COPS7B Gene

miRTarBase miRNAs that target COPS7B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS7B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPS7B Gene

Localization for COPS7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS7B Gene

Cytoplasm. Nucleus.

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 COPS7B gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COPS7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0008180 COP9 signalosome IEA,IDA 18850735
genes like me logo Genes that share ontologies with COPS7B: view

Pathways & Interactions for COPS7B Gene

genes like me logo Genes that share pathways with COPS7B: view

Gene Ontology (GO) - Biological Process for COPS7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000338 protein deneddylation IDA 19141280
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0010387 COP9 signalosome assembly IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with COPS7B: view

No data available for SIGNOR curated interactions for COPS7B Gene

Drugs & Compounds for COPS7B Gene

No Compound Related Data Available

Transcripts for COPS7B Gene

mRNA/cDNA for COPS7B Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS7B

Alternative Splicing Database (ASD) splice patterns (SP) for COPS7B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: - -
SP11: - -
SP12: - -

Relevant External Links for COPS7B Gene

GeneLoc Exon Structure for
COPS7B

Expression for COPS7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COPS7B Gene

Protein differential expression in normal tissues from HIPED for COPS7B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPS7B Gene



Protein tissue co-expression partners for COPS7B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COPS7B

SOURCE GeneReport for Unigene cluster for COPS7B Gene:

Hs.335061

Evidence on tissue expression from TISSUES for COPS7B Gene

  • Lung(4.5)
  • Nervous system(4.3)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with COPS7B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS7B Gene

Orthologs for COPS7B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPS7B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COPS7B 30 31
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COPS7B 30 31
  • 94.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COPS7B 31
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cops7b 30
  • 92.93 (n)
Cow
(Bos Taurus)
Mammalia COPS7B 30 31
  • 92.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cops7b 30 17 31
  • 92.68 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COPS7B 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COPS7B 30 31
  • 81.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COPS7B 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cops7b 30
  • 76.77 (n)
Str.8177 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.17235 30
Zebrafish
(Danio rerio)
Actinopterygii wufa19h06 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012398 30
  • 59.71 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CSN7 30 31
  • 54.45 (n)
OneToMany
CSN7b 32
  • 44 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FUS5 30
  • 46.58 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0490800 30
  • 47.77 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08342 30
  • 47.21 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9499 31
  • 40 (a)
OneToMany
Species where no ortholog for COPS7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COPS7B Gene

ENSEMBL:
Gene Tree for COPS7B (if available)
TreeFam:
Gene Tree for COPS7B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPS7B: view image

Paralogs for COPS7B Gene

Paralogs for COPS7B Gene

(8) SIMAP similar genes for COPS7B Gene using alignment to 12 proteins:

  • CSN7B_HUMAN
  • J3KQ34_HUMAN
  • J3KQ41_HUMAN
  • J3KQV6_HUMAN
  • J3QT43_HUMAN
  • J3QT50_HUMAN
  • J3QT65_HUMAN
  • J3QT66_HUMAN
  • J3QT67_HUMAN
  • J3QT69_HUMAN
  • J3QT73_HUMAN
  • J3QT95_HUMAN
genes like me logo Genes that share paralogs with COPS7B: view

Variants for COPS7B Gene

Additional dbSNP identifiers (rs#s) for COPS7B Gene

Structural Variations from Database of Genomic Variants (DGV) for COPS7B Gene

Variant ID Type Subtype PubMed ID
esv2759117 CNV gain+loss 17122850
nsv3205 CNV insertion 18451855
nsv428408 CNV gain+loss 18775914
nsv508890 CNV insertion 20534489
nsv511094 OTHER complex 20534489

Variation tolerance for COPS7B Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPS7B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS7B

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 COPS7B Gene

Disorders for COPS7B Gene

MalaCards: The human disease database

(3) MalaCards diseases for COPS7B Gene - From: DISEASES

Disorder Aliases PubMed IDs
acromesomelic dysplasia, maroteaux type
  • amdm
acromesomelic dysplasia
  • acromesomelic dwarfism
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COPS7B

genes like me logo Genes that share disorders with COPS7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS7B Gene

Publications for COPS7B Gene

  1. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L … Huang L (Journal of proteome research 2008) 3 4
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PMID: 12732143) Groisman R … Nakatani Y (Cell 2003) 3 4

Products for COPS7B Gene

Sources for COPS7B Gene