COPS7B
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Also known as CSN7B
Summary
COPS7B (COP9 signalosome subunit 7B, HGNC:16760) is a protein-coding gene on chromosome 2q37.1, encoding COP9 signalosome complex subunit 7b (Q9H9Q2). Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes.
Involved in protein deneddylation. Located in nucleoplasm. Part of COP9 signalosome.
Source: NCBI Gene 64708 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- Druggable target: yes
- MANE Select transcript:
NM_022730
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16760 |
| Approved symbol | COPS7B |
| Name | COP9 signalosome subunit 7B |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CSN7B |
| Ensembl gene | ENSG00000144524 |
| Ensembl biotype | protein_coding |
| OMIM | 616010 |
| Entrez | 64708 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 17 protein_coding, 7 nonsense_mediated_decay, 6 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000350033, ENST00000357490, ENST00000373608, ENST00000409091, ENST00000409295, ENST00000410017, ENST00000410024, ENST00000412591, ENST00000412922, ENST00000413197, ENST00000432387, ENST00000436564, ENST00000449174, ENST00000449784, ENST00000450501, ENST00000452375, ENST00000461350, ENST00000466901, ENST00000474042, ENST00000479430, ENST00000488111, ENST00000492423, ENST00000611614, ENST00000620578, ENST00000631349, ENST00000876254, ENST00000876255, ENST00000914093, ENST00000914094, ENST00000914095, ENST00000956209
RefSeq mRNA: 7 — MANE Select: NM_022730
NM_001282949, NM_001282950, NM_001282951, NM_001282952, NM_001308381, NM_001369483, NM_022730
CCDS: CCDS2488, CCDS63152, CCDS63153, CCDS63154, CCDS74668, CCDS77539
Canonical transcript exons
ENST00000350033 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003467265 | 231788555 | 231788732 |
| ENSE00003567830 | 231794263 | 231794351 |
| ENSE00003585607 | 231791733 | 231791808 |
| ENSE00003592347 | 231807487 | 231809253 |
| ENSE00003615938 | 231796106 | 231796308 |
| ENSE00003654813 | 231798859 | 231798964 |
| ENSE00003902322 | 231786445 | 231786538 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 94.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.8976 / max 214.7140, expressed in 1800 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25939 | 15.5873 | 1786 |
| 25937 | 3.7551 | 1310 |
| 25936 | 3.4383 | 1283 |
| 25938 | 0.1169 | 33 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 94.56 | gold quality |
| right testis | UBERON:0004534 | 94.07 | gold quality |
| left testis | UBERON:0004533 | 93.96 | gold quality |
| body of uterus | UBERON:0009853 | 93.88 | gold quality |
| cortical plate | UBERON:0005343 | 93.84 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.67 | gold quality |
| apex of heart | UBERON:0002098 | 93.58 | gold quality |
| endocervix | UBERON:0000458 | 93.50 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.43 | gold quality |
| pituitary gland | UBERON:0000007 | 93.26 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.92 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.89 | gold quality |
| body of stomach | UBERON:0001161 | 92.85 | gold quality |
| right coronary artery | UBERON:0001625 | 92.80 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.67 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.65 | gold quality |
| lower esophagus | UBERON:0013473 | 92.65 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.65 | gold quality |
| tibial nerve | UBERON:0001323 | 92.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.61 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.60 | gold quality |
| right ovary | UBERON:0002118 | 92.52 | gold quality |
| granulocyte | CL:0000094 | 92.40 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.31 | gold quality |
| left ovary | UBERON:0002119 | 92.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.09 |
| E-MTAB-6379 | no | 179.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting COPS7B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
Literature-anchored findings (GeneRIF, showing 2)
- CSN7B defines a variant COP9 signalosome complex with distinct function in DNA damage response. (PMID:33503427)
- The IGF2BP3-COPS7B Axis Facilitates mRNA Translation to Drive Colorectal Cancer Progression. (PMID:37560971)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cops7b | ENSMUSG00000026240 |
| rattus_norvegicus | Cops7b | ENSRNOG00000018723 |
| drosophila_melanogaster | CSN7 | FBGN0028836 |
Paralogs (2): COPS7A (ENSG00000111652), EIF3M (ENSG00000149100)
Protein
Protein identifiers
COP9 signalosome complex subunit 7b — Q9H9Q2 (reviewed: Q9H9Q2)
Alternative names: JAB1-containing signalosome subunit 7b
All UniProt accessions (12): Q9H9Q2, A0A087X1P5, J3KQ34, J3KQ41, J3KQV6, J3QT43, J3QT50, J3QT65, J3QT66, J3QT67, J3QT73, J3QT95
UniProt curated annotations — full annotation on UniProt →
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.
Subunit / interactions. 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 probably interacts directly with COPS1, COPS2, COPS4, COPS5, COPS6 and COPS8. Interacts with EIF3S6. (Microbial infection) Interacts with vaccinia virus protein C9L.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the CSN7/EIF3M family. CSN7 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H9Q2-1 | 1 | yes |
| Q9H9Q2-2 | 2 | |
| Q9H9Q2-3 | 3 |
RefSeq proteins (7): NP_001269878, NP_001269879, NP_001269880, NP_001269881, NP_001295310, NP_001356412, NP_073567* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000717 | PCI_dom | Domain |
| IPR041481 | CSN7_helixI | Domain |
| IPR045237 | COPS7/eIF3m | Family |
Pfam: PF01399, PF18392, PF22061
UniProt features (12 total): modified residue 3, compositionally biased region 2, splice variant 2, initiator methionine 1, chain 1, domain 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
25 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9QO4 | ELECTRON MICROSCOPY | 2.95 |
| 9EFQ | ELECTRON MICROSCOPY | 2.96 |
| 9PH4 | ELECTRON MICROSCOPY | 3 |
| 9QO6 | ELECTRON MICROSCOPY | 3 |
| 9EFV | ELECTRON MICROSCOPY | 3.03 |
| 9EFM | ELECTRON MICROSCOPY | 3.16 |
| 9QO1 | ELECTRON MICROSCOPY | 3.23 |
| 9QO0 | ELECTRON MICROSCOPY | 3.26 |
| 9E77 | ELECTRON MICROSCOPY | 3.3 |
| 9E81 | ELECTRON MICROSCOPY | 3.3 |
| 9EG8 | ELECTRON MICROSCOPY | 3.39 |
| 9E5Z | ELECTRON MICROSCOPY | 3.4 |
| 9EG1 | ELECTRON MICROSCOPY | 3.52 |
| 9QO2 | ELECTRON MICROSCOPY | 3.8 |
| 9EGL | ELECTRON MICROSCOPY | 3.93 |
| 9QO5 | ELECTRON MICROSCOPY | 4 |
| 8H38 | ELECTRON MICROSCOPY | 4.25 |
| 9QO3 | ELECTRON MICROSCOPY | 4.6 |
| 6R7I | ELECTRON MICROSCOPY | 5.9 |
| 6R7N | ELECTRON MICROSCOPY | 6.5 |
| 8H3F | ELECTRON MICROSCOPY | 6.73 |
| 8H3A | ELECTRON MICROSCOPY | 7.51 |
| 6R7F | ELECTRON MICROSCOPY | 8.2 |
| 6R6H | ELECTRON MICROSCOPY | 8.4 |
| 6R7H | ELECTRON MICROSCOPY | 8.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9Q2-F1 | 85.00 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 261, 263, 2
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 199 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_PROTEIN_NEDDYLATION, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, GTACAGG_MIR486, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CATTTCA_MIR203, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, REACTOME_DNA_REPAIR, CAGCCTC_MIR4855P, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (3): protein deneddylation (GO:0000338), COP9 signalosome assembly (GO:0010387), regulation of protein neddylation (GO:2000434)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), COP9 signalosome (GO:0008180), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 1 |
| Clathrin-mediated endocytosis | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein modification by small protein removal | 1 |
| protein-containing complex assembly | 1 |
| protein neddylation | 1 |
| regulation of protein modification by small protein conjugation or removal | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear protein-containing complex | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1090 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COPS7B | COPS8 | Q99627 | 853 |
| COPS7B | COPS4 | Q9BT78 | 824 |
| COPS7B | COPS6 | Q7L5N1 | 822 |
| COPS7B | COPS2 | P61201 | 803 |
| COPS7B | COPS3 | Q9UNS2 | 775 |
| COPS7B | GPS1 | Q13098 | 749 |
| COPS7B | COPS5 | Q92905 | 731 |
| COPS7B | NEDD8 | Q15843 | 591 |
| COPS7B | AAAS | Q9NRG9 | 457 |
| COPS7B | C9orf153 | Q5TBE3 | 418 |
| COPS7B | WDR64 | B1ANS9 | 416 |
| COPS7B | NUP50 | Q9UKX7 | 414 |
| COPS7B | COPS7A | Q9UBW8 | 411 |
| COPS7B | NUP210 | Q8TEM1 | 408 |
| COPS7B | PSMC1 | P49014 | 407 |
IntAct
165 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL2 | VHL | psi-mi:“MI:0914”(association) | 0.940 |
| COPS5 | COPS2 | psi-mi:“MI:0914”(association) | 0.910 |
| FBXO7 | SKP1 | psi-mi:“MI:0914”(association) | 0.900 |
| COPS3 | COPS2 | psi-mi:“MI:0914”(association) | 0.870 |
| GPS1 | COPS2 | psi-mi:“MI:0915”(physical association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| COPS7B | NMI | psi-mi:“MI:0915”(physical association) | 0.720 |
| NMI | COPS7B | psi-mi:“MI:0915”(physical association) | 0.720 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (306): COPS7B (Two-hybrid), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS2 (Co-fractionation), COPS6 (Co-fractionation), COPS7B (Co-fractionation), COPS8 (Co-fractionation), COPS7B (Proximity Label-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS), COPS7B (Affinity Capture-MS)
ESM2 similar proteins: A0JN27, A2ADY9, D3K5L7, D3Z7P3, E2R222, G3MWR8, O70133, O94925, O94973, P13264, P18484, P97834, Q06AT3, Q08211, Q0VCK5, Q13042, Q13098, Q15645, Q28141, Q28F89, Q2KI56, Q2TBV5, Q3MHJ2, Q3UA06, Q497D6, Q5NVP9, Q5R874, Q5RBN9, Q5TDH0, Q5XHZ9, Q5XIT1, Q5ZJB7, Q6AYU1, Q6NRB5, Q6NRT5, Q6PER3, Q6TH22, Q7RTP6, Q7ZYA7, Q86TJ2
Diamond homologs: Q2KI56, Q55BD5, Q5R762, Q7SGS1, Q8BV13, Q94JU3, Q9CZ04, Q9H9Q2, Q9UBW8, Q9V4S8, Q00648, B4GDM5, B4JW83, B4KT65, P68395, Q0CPV5, Q292F0, Q2UDZ9, A8WQY8, Q94261
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| COPS7B | “form complex” | “COP9 signalosome variant 2” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 136 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 11 | 32.0× | 6e-12 |
| RHOBTB1 GTPase cycle | 6 | 29.1× | 5e-06 |
| Formation of TC-NER Pre-Incision Complex | 11 | 23.7× | 1e-10 |
| Neddylation | 31 | 15.0× | 9e-26 |
| Cargo recognition for clathrin-mediated endocytosis | 9 | 9.6× | 4e-05 |
| Antigen processing: Ubiquitination & Proteasome degradation | 18 | 6.8× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein neddylation | 11 | 63.8× | 2e-15 |
| regulation of protein neddylation | 8 | 61.9× | 5e-11 |
| SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 6 | 18.6× | 9e-05 |
| intrinsic apoptotic signaling pathway | 6 | 17.8× | 1e-04 |
| cellular response to UV | 5 | 12.2× | 4e-03 |
| protein ubiquitination | 32 | 10.9× | 1e-21 |
| G1/S transition of mitotic cell cycle | 6 | 9.9× | 3e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 20 | 8.6× | 4e-11 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1154 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:231788729:GGAG:G | donor_gain | 1.0000 |
| 2:231788730:GAGG:G | donor_gain | 1.0000 |
| 2:231791731:A:AG | acceptor_gain | 1.0000 |
| 2:231791732:G:GG | acceptor_gain | 1.0000 |
| 2:231794234:T:A | acceptor_gain | 1.0000 |
| 2:231794241:T:A | acceptor_gain | 1.0000 |
| 2:231794243:T:TA | acceptor_gain | 1.0000 |
| 2:231794244:G:A | acceptor_gain | 1.0000 |
| 2:231794246:T:TA | acceptor_gain | 1.0000 |
| 2:231794247:G:A | acceptor_gain | 1.0000 |
| 2:231794250:T:TA | acceptor_gain | 1.0000 |
| 2:231794251:G:A | acceptor_gain | 1.0000 |
| 2:231794349:AAG:A | donor_loss | 1.0000 |
| 2:231794352:GTAC:G | donor_loss | 1.0000 |
| 2:231794353:T:A | donor_loss | 1.0000 |
| 2:231796103:CA:C | acceptor_loss | 1.0000 |
| 2:231796104:A:AG | acceptor_gain | 1.0000 |
| 2:231796104:AGT:A | acceptor_gain | 1.0000 |
| 2:231796105:G:A | acceptor_loss | 1.0000 |
| 2:231796105:G:GA | acceptor_gain | 1.0000 |
| 2:231796105:GT:G | acceptor_gain | 1.0000 |
| 2:231796105:GTG:G | acceptor_gain | 1.0000 |
| 2:231796105:GTGT:G | acceptor_gain | 1.0000 |
| 2:231796105:GTGTA:G | acceptor_gain | 1.0000 |
| 2:231796122:T:TA | acceptor_gain | 1.0000 |
| 2:231796125:T:A | acceptor_gain | 1.0000 |
| 2:231796128:T:A | acceptor_gain | 1.0000 |
| 2:231796235:G:GT | donor_gain | 1.0000 |
| 2:231796270:G:GT | donor_gain | 1.0000 |
| 2:231796274:GA:G | donor_gain | 1.0000 |
AlphaMissense
1714 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:231794311:T:C | L96P | 1.000 |
| 2:231794320:T:C | L99P | 1.000 |
| 2:231796170:T:C | L131P | 1.000 |
| 2:231796181:G:C | A135P | 1.000 |
| 2:231796307:T:A | W177R | 1.000 |
| 2:231796307:T:C | W177R | 1.000 |
| 2:231788697:T:C | F43L | 0.999 |
| 2:231788699:T:A | F43L | 0.999 |
| 2:231788699:T:G | F43L | 0.999 |
| 2:231791778:T:C | F70L | 0.999 |
| 2:231791780:T:A | F70L | 0.999 |
| 2:231791780:T:G | F70L | 0.999 |
| 2:231791782:C:A | A71D | 0.999 |
| 2:231794307:A:G | K95E | 0.999 |
| 2:231794309:G:C | K95N | 0.999 |
| 2:231794309:G:T | K95N | 0.999 |
| 2:231794311:T:A | L96Q | 0.999 |
| 2:231794320:T:A | L99H | 0.999 |
| 2:231794323:C:T | T100I | 0.999 |
| 2:231794326:T:A | I101N | 0.999 |
| 2:231794337:G:C | A105P | 0.999 |
| 2:231794338:C:A | A105E | 0.999 |
| 2:231796125:T:C | L116S | 0.999 |
| 2:231796161:T:C | L128P | 0.999 |
| 2:231796164:A:T | E129V | 0.999 |
| 2:231796165:A:C | E129D | 0.999 |
| 2:231796165:A:T | E129D | 0.999 |
| 2:231796176:T:A | I133N | 0.999 |
| 2:231796205:G:C | G143R | 0.999 |
| 2:231796206:G:A | G143D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000205421 (2:231787546 C>A,T), RS1000345810 (2:231808903 T>A), RS1000638491 (2:231807210 C>T), RS1000660594 (2:231787341 A>G), RS1000801198 (2:231801092 A>G), RS1000938021 (2:231797926 T>A,G), RS1000938847 (2:231804397 G>A), RS1000947847 (2:231798193 A>T), RS1001145647 (2:231785525 T>A,C), RS1001243375 (2:231804181 G>T), RS1001396603 (2:231799999 TAA>T), RS1001501933 (2:231781793 A>G), RS1001541210 (2:231809749 C>G), RS1001681587 (2:231803039 A>G), RS1001763591 (2:231789497 T>G)
Disease associations
OMIM: gene MIM:616010 | disease phenotypes: MIM:267000, MIM:615665
GenCC curated gene-disease
Mondo (3): Perlman syndrome (MONDO:0009965), Joubert syndrome 22 (MONDO:0014297), skeletal dysplasia (MONDO:0018230)
Orphanet (3): Orofaciodigital syndrome type 6 (Orphanet:2754), Perlman syndrome (Orphanet:2849), Primary bone dysplasia (Orphanet:364526)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000175_5 | Height | 1.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536399 | Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5706 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Benzophenoneidum | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Gallic Acid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thimerosal | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL950406 | Binding | Binding affinity to COP9 signalosome complex subunit 7b in human Jurkat cells at 10 uM after 24 hrs by 2D electrophoresis | Highly cytotoxic and neurotoxic acetogenins of the Annonaceae: new putative biological targets of squamocin detected by activity-based protein profiling. — Bioorg Med Chem Lett |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2UY | Abcam HEK293T COPS7B KO | Transformed cell line | Female |
| CVCL_SJ56 | HAP1 COPS7B (-) 1 | Cancer cell line | Male |
| CVCL_SJ57 | HAP1 COPS7B (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
7 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00001754 | Not specified | COMPLETED | Study of Skeletal Disorders and Short Stature |
| NCT02762318 | Not specified | TERMINATED | Identification and Characterization of Bone-related Genetic Variants in Families |
| NCT03548779 | Not specified | COMPLETED | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 |
| NCT05247645 | Not specified | RECRUITING | Data Collection of Patients With Rare Bone Diseases |
| NCT05876416 | Not specified | RECRUITING | Decoding the Genetic Landscape of Skeletal Diseases |
| NCT05991609 | Not specified | ACTIVE_NOT_RECRUITING | Extreme Morphology and Metabolic Health |
| NCT06002373 | Not specified | UNKNOWN | Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Joubert syndrome 22, Perlman syndrome, skeletal dysplasia