CNOT6
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Also known as CCR4KIAA1194Ccr4a
Summary
CNOT6 (CCR4-NOT transcription complex subunit 6, HGNC:14099) is a protein-coding gene on chromosome 5q35.3, encoding CCR4-NOT transcription complex subunit 6 (Q9ULM6). Poly(A) nuclease with 3’-5’ RNase activity.
This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3’-5’ RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation.
Source: NCBI Gene 57472 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 100 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001370472
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14099 |
| Approved symbol | CNOT6 |
| Name | CCR4-NOT transcription complex subunit 6 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CCR4, KIAA1194, Ccr4a |
| Ensembl gene | ENSG00000113300 |
| Ensembl biotype | protein_coding |
| OMIM | 608951 |
| Entrez | 57472 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000261951, ENST00000393356, ENST00000502447, ENST00000504343, ENST00000507016, ENST00000510148, ENST00000618123, ENST00000968017, ENST00000968018, ENST00000968019
RefSeq mRNA: 3 — MANE Select: NM_001370472
NM_001370472, NM_001370473, NM_001370474
CCDS: CCDS4455
Canonical transcript exons
ENST00000261951 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000770532 | 180567849 | 180568003 |
| ENSE00000973892 | 180564489 | 180564593 |
| ENSE00000973893 | 180564675 | 180564743 |
| ENSE00000973894 | 180565820 | 180565977 |
| ENSE00000973895 | 180567088 | 180567242 |
| ENSE00000973897 | 180571230 | 180571432 |
| ENSE00001056018 | 180553386 | 180553471 |
| ENSE00001150547 | 180569110 | 180569340 |
| ENSE00001410297 | 180494379 | 180494763 |
| ENSE00001420000 | 180573988 | 180578358 |
| ENSE00003496346 | 180549931 | 180550117 |
| ENSE00003583232 | 180529275 | 180529388 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 98.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0031 / max 237.9970, expressed in 1808 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60642 | 19.4154 | 1807 |
| 60643 | 1.5877 | 889 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.79 | gold quality |
| oocyte | CL:0000023 | 98.41 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.75 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.30 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.05 | gold quality |
| cortical plate | UBERON:0005343 | 91.94 | gold quality |
| embryo | UBERON:0000922 | 90.94 | gold quality |
| ventricular zone | UBERON:0003053 | 90.94 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.19 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 89.45 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.10 | gold quality |
| nasopharynx | UBERON:0001728 | 88.08 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.93 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.75 | gold quality |
| eye | UBERON:0000970 | 87.74 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.58 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 87.57 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.56 | gold quality |
| gingiva | UBERON:0001828 | 87.42 | gold quality |
| endometrium | UBERON:0001295 | 87.30 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 87.19 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.19 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.11 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.71 | gold quality |
| bone marrow | UBERON:0002371 | 86.40 | gold quality |
| sural nerve | UBERON:0015488 | 86.22 | gold quality |
| leukocyte | CL:0000738 | 85.95 | gold quality |
| monocyte | CL:0000576 | 85.94 | gold quality |
| mononuclear cell | CL:0000842 | 85.90 | gold quality |
| sperm | CL:0000019 | 85.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.30 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 10)
- CCR4 and BTG2 interact and have a role in cell-cycle regulation (PMID:12771185)
- CCR4 plays a role in the regulation of certain endogenous RARalpha target genes and RCD1 and CCR4 might mediate their function through their interaction with NIF-1 (PMID:18180299)
- hCCR4/cNOT6 targets DNA-damage response proteins (PMID:18818012)
- Data show that Ccr4-Not function in RNA splicing and nuclear export, and that CNOT6 binds CNOT8 in yeast two-hybrid assays. (PMID:19558367)
- Results identified CNOT6/CNOT6L as a key regulator of insulin-like growth factor-binding protein 5, which mediates cell cycle arrest and senescence via a p53-dependent pathway. (PMID:21233283)
- These results indicate that Caf1 and Ccr4 cooperate in mRNA deadenylation and suggest that the enzyme activities of Caf1 and Ccr4 are regulated via allosteric interactions within the nuclease module. (PMID:25944446)
- miR-29c-3p promotes the senescence of Mesenchymal stem cells by targeting CNOT6 through p53-p21 and p16-pRB pathways. (PMID:26792405)
- The CNOT6 rs2453176 Single Nucleotide Polymorphism may be a new functional susceptible locus for lung cancer risk. (PMID:27805284)
- Studied hepatic role in metabolic homeostasis of fibroblast growth factor 21(FGF21) and the “CCR4-NOT complex” (a multisubunit protein complex composed of “CCR4-NOT transcription complex subunit 6 like” (CNOT6L) and “CCR4-NOT transcription complex subunit 6” (CNOT6). Results show CNOT6L plays a major role in regulation FGF21 levels. (PMID:30926667)
- Crystal structure and functional properties of the human CCR4-CAF1 deadenylase complex. (PMID:34038562)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnot6a | ENSDARG00000008255 |
| danio_rerio | cnot6b | ENSDARG00000101072 |
| mus_musculus | Cnot6 | ENSMUSG00000020362 |
| rattus_norvegicus | Cnot6 | ENSRNOG00000054891 |
| drosophila_melanogaster | twin | FBGN0011725 |
| drosophila_melanogaster | angel | FBGN0016762 |
| caenorhabditis_elegans | WBGENE00000376 | |
| caenorhabditis_elegans | WBGENE00020955 |
Paralogs (5): ANGEL1 (ENSG00000013523), CNOT6L (ENSG00000138767), NOCT (ENSG00000151014), ANGEL2 (ENSG00000174606), PDE12 (ENSG00000174840)
Protein
Protein identifiers
CCR4-NOT transcription complex subunit 6 — Q9ULM6 (reviewed: Q9ULM6)
Alternative names: CCR4 carbon catabolite repression 4-like, Carbon catabolite repressor protein 4 homolog, Cytoplasmic deadenylase
All UniProt accessions (2): Q9ULM6, D6R9H6
UniProt curated annotations — full annotation on UniProt →
Function. Poly(A) nuclease with 3’-5’ RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytoplasm. In the presence of ZNF335, enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA. The increase of ligand-dependent ESR1-mediated transcription is much smaller, if any. Mediates cell proliferation and cell survival and prevents cellular senescence.
Subunit / interactions. Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits; the complex contains two deadenylase subunits, CNOT6 or CNOT6L, and CNOT7 or CNOT8. Interacts with CNOT7 and CNOT8. Interacts with UNR. Interacts with ZFP36L1 (via N-terminus). Interacts with ZNF335.
Subcellular location. Cytoplasm. Nucleus.
Cofactor. Binds 2 magnesium ions, but the ions interact each with only 1 or 2 residues.
Similarity. Belongs to the CCR4/nocturin family.
RefSeq proteins (3): NP_001357401, NP_001357402, NP_001357403 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR005135 | Endo/exonuclease/phosphatase | Domain |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR034966 | Cnot6 | Domain |
| IPR036691 | Endo/exonu/phosph_ase_sf | Homologous_superfamily |
| IPR050410 | CCR4/nocturin_mRNA_transcr | Family |
Pfam: PF03372, PF13855
UniProt features (62 total): strand 21, helix 19, binding site 9, turn 5, repeat 4, chain 1, mutagenesis site 1, region of interest 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7AX1 | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULM6-F1 | 89.51 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 412 (proton donor/acceptor)
Ligand- & substrate-binding residues (9): 361; 366; 412; 414; 481; 486; 240; 240; 276
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 240 | impairs deadenylation and decay of mrnai-targeted mrna. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-429947 | Deadenylation of mRNA |
| R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogenesis |
| R-HSA-6804115 | TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain |
| R-HSA-9820841 | M-decay: degradation of maternal mRNAs by maternally stored factors |
MSigDB gene sets: 482 (showing top):
GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_P_BODY_ASSEMBLY, GGTGTGT_MIR329, GOBP_TOLERANCE_INDUCTION, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, TGCACTT_MIR519C_MIR519B_MIR519A, GOMF_NUCLEASE_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS
GO Biological Process (8): nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289), regulation of translation (GO:0006417), positive regulation of cell population proliferation (GO:0008284), positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606), miRNA-mediated gene silencing by mRNA destabilization (GO:0035279), nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966), regulatory ncRNA-mediated gene silencing (GO:0031047), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (11): 3’-5’-RNA exonuclease activity (GO:0000175), transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), RNA exonuclease activity (GO:0004532), poly(A)-specific ribonuclease activity (GO:0004535), metal ion binding (GO:0046872), catalytic activity (GO:0003824), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), membrane (GO:0016020), CCR4-NOT complex (GO:0030014), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Deadenylation-dependent mRNA decay | 1 |
| Activation of HOX genes during differentiation | 1 |
| TP53 Regulates Transcription of Cell Cycle Genes | 1 |
| Maternal to zygotic transition (MZT) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear-transcribed mRNA catabolic process | 2 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| regulation of cytoplasmic mRNA processing body assembly | 1 |
| P-body assembly | 1 |
| positive regulation of organelle assembly | 1 |
| miRNA-mediated post-transcriptional gene silencing | 1 |
| mRNA destabilization | 1 |
| negative regulation of gene expression | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| 3’-5’ exonuclease activity | 1 |
| RNA exonuclease activity, producing 5’-phosphomonoesters | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| nucleic acid binding | 1 |
| exonuclease activity | 1 |
| RNA nuclease activity | 1 |
| 3’-5’-RNA exonuclease activity | 1 |
| cation binding | 1 |
| molecular_function | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| nuclease activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1312 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNOT6 | CNOT9 | Q92600 | 998 |
| CNOT6 | CNOT7 | Q9UIV1 | 997 |
| CNOT6 | CNOT8 | Q9UFF9 | 997 |
| CNOT6 | CNOT1 | A5YKK6 | 995 |
| CNOT6 | CNOT3 | O75175 | 987 |
| CNOT6 | CNOT2 | Q9NZN8 | 981 |
| CNOT6 | CNOT6L | Q96LI5 | 972 |
| CNOT6 | CNOT10 | Q9H9A5 | 961 |
| CNOT6 | CNOT11 | Q9UKZ1 | 918 |
| CNOT6 | CNOT4 | O95628 | 845 |
| CNOT6 | PARN | O95453 | 803 |
| CNOT6 | XRN1 | Q8IZH2 | 668 |
| CNOT6 | DEDD | O75618 | 667 |
| CNOT6 | THRA | P10827 | 655 |
| CNOT6 | DCP2 | Q8IU60 | 580 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT7 | CNOT1 | psi-mi:“MI:0914”(association) | 0.880 |
| CNOT7 | CNOT6L | psi-mi:“MI:0914”(association) | 0.880 |
| CNOT6L | CNOT1 | psi-mi:“MI:0914”(association) | 0.810 |
| PATL1 | LSM1 | psi-mi:“MI:0914”(association) | 0.770 |
| CNOT11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.770 |
| CNOT6 | CNOT1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| CNOT3 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| TOB1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.710 |
| CNOT6 | CNOT7 | psi-mi:“MI:0915”(physical association) | 0.710 |
| CNOT6 | CNOT3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HSP90AA1 | CHUK | psi-mi:“MI:0914”(association) | 0.670 |
| CNOT6 | CNOT10 | psi-mi:“MI:0915”(physical association) | 0.660 |
| CAPZB | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CNOT8 | CNOT6 | psi-mi:“MI:0915”(physical association) | 0.570 |
| TNKS1BP1 | CNOT6 | psi-mi:“MI:0915”(physical association) | 0.530 |
BioGRID (113): CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), CNOT6 (Affinity Capture-Western), CNOT6 (Affinity Capture-Western)
ESM2 similar proteins: A1Z6E0, A2BHJ4, A8IU92, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, P00860, P0C2W1, P0CH38, P11926, P27117, P27119, P27120, P48455, P53041, P53042, Q0G819, Q16XV7, Q290L5, Q5BJ41, Q5E9X6, Q5VST6, Q5XH73, Q60676, Q68FK8, Q6AXU9, Q6AY17, Q6IR85, Q6NZ03, Q7M759, Q7QGL9
Diamond homologs: A1CIJ6, A1CW67, A2BHJ4, A2Q9L0, B7XK66, C4V7I7, O74874, P0CP22, P0CP23, P31384, Q0CT27, Q0U7W4, Q1EA11, Q2UUI3, Q4P9T3, Q4WQG5, Q5A761, Q5B778, Q5BJ41, Q5XH73, Q6AXU9, Q6BMM5, Q6CEJ6, Q6CJU4, Q6FRT2, Q6IR85, Q75BI3, Q8K3P5, Q8SU52, Q8VEG6, Q8W0Z9, Q96LI5, Q9C2R2, Q9M2F8, Q9ULM6, A8JQX3, B2RYM0, P79942, Q8K1C0, Q8VCU0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CNOT6 | “form complex” | “CCR4-NOT complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain | 9 | 122.9× | 1e-15 |
| Deadenylation of mRNA | 9 | 104.0× | 6e-15 |
| M-decay: degradation of maternal mRNAs by maternally stored factors | 11 | 94.5× | 1e-17 |
| Estrogen-dependent gene expression | 6 | 11.9× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nuclear-transcribed mRNA poly(A) tail shortening | 9 | 136.3× | 2e-15 |
| positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 6 | 127.2× | 4e-10 |
| regulatory ncRNA-mediated gene silencing | 9 | 114.5× | 6e-15 |
| regulation of translation | 7 | 28.9× | 3e-07 |
| negative regulation of translation | 6 | 22.2× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
100 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 253599 | GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1 | Pathogenic |
SpliceAI
2826 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:180529273:A:AG | acceptor_gain | 1.0000 |
| 5:180529273:A:G | acceptor_loss | 1.0000 |
| 5:180529273:AG:A | acceptor_gain | 1.0000 |
| 5:180529274:G:GT | acceptor_gain | 1.0000 |
| 5:180529274:GG:G | acceptor_gain | 1.0000 |
| 5:180529274:GGC:G | acceptor_gain | 1.0000 |
| 5:180529274:GGCA:G | acceptor_gain | 1.0000 |
| 5:180529274:GGCAT:G | acceptor_gain | 1.0000 |
| 5:180529354:A:T | donor_gain | 1.0000 |
| 5:180529382:A:AG | donor_gain | 1.0000 |
| 5:180529386:GTG:G | donor_gain | 1.0000 |
| 5:180529387:TGG:T | donor_loss | 1.0000 |
| 5:180529389:G:GG | donor_gain | 1.0000 |
| 5:180549925:TTACA:T | acceptor_loss | 1.0000 |
| 5:180549926:TACA:T | acceptor_loss | 1.0000 |
| 5:180549928:CA:C | acceptor_loss | 1.0000 |
| 5:180549929:A:AC | acceptor_loss | 1.0000 |
| 5:180549929:A:AG | acceptor_gain | 1.0000 |
| 5:180549929:AG:A | acceptor_gain | 1.0000 |
| 5:180549930:G:GG | acceptor_gain | 1.0000 |
| 5:180549930:GG:G | acceptor_gain | 1.0000 |
| 5:180549930:GGA:G | acceptor_gain | 1.0000 |
| 5:180549930:GGAA:G | acceptor_gain | 1.0000 |
| 5:180550114:TCAG:T | donor_loss | 1.0000 |
| 5:180550115:CAGGT:C | donor_loss | 1.0000 |
| 5:180550116:AG:A | donor_loss | 1.0000 |
| 5:180550117:GGT:G | donor_loss | 1.0000 |
| 5:180550118:G:GA | donor_loss | 1.0000 |
| 5:180550119:T:A | donor_loss | 1.0000 |
| 5:180564475:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000017288 (5:180530581 G>T), RS1000084460 (5:180575255 T>A), RS1000173563 (5:180521253 C>T), RS1000174783 (5:180565468 C>T), RS1000209445 (5:180566551 A>G), RS1000232816 (5:180552898 C>T), RS1000240373 (5:180504687 T>C), RS1000261807 (5:180561448 CTTGG>C), RS1000340336 (5:180510771 G>A), RS1000369556 (5:180494769 C>G,T), RS1000434945 (5:180537664 C>T), RS1000458060 (5:180572120 T>C), RS1000480316 (5:180515875 AAGGAG>A), RS1000497825 (5:180557463 A>G), RS1000579231 (5:180514572 G>A)
Disease associations
OMIM: gene MIM:608951 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000612_21 | Celiac disease | 3.000000e-09 |
| GCST004682_2 | Psychosis proneness (hypomanic personality scale and revised social anhedonia scale) | 2.000000e-06 |
| GCST004683_2 | Psychosis proneness (perceptual aberration scale and revised social anhedonia scale) | 6.000000e-07 |
| GCST004684_1 | Psychosis proneness (revised physical anhedonia scale and revised social anhedonia scale) | 4.000000e-06 |
| GCST004686_1 | Psychosis proneness (revised social anhedonia scale) | 7.000000e-07 |
| GCST005523_13 | Celiac disease | 2.000000e-07 |
| GCST005531_36 | Multiple sclerosis | 2.000000e-09 |
| GCST007239_9 | Ovarian cancer | 5.000000e-06 |
| GCST009798_68 | Asthma | 3.000000e-12 |
| GCST012317_16 | Triglyceride levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder | 9.000000e-06 |
| GCST90002396_316 | Mean reticulocyte volume | 2.000000e-11 |
| GCST90002397_102 | Mean spheric corpuscular volume | 6.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008337 | psychosis predisposition measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3616363 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Methapyrilene | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3619399 | Binding | Inhibition of Ccr4 (unknown origin) at 30 uM by fluorescence-based assay | Discovery, synthesis and biochemical profiling of purine-2,6-dione derivatives as inhibitors of the human poly(A)-selective ribonuclease Caf1. — Bioorg Med Chem Lett |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8DW | Abcam HCT 116 CNOT6 KO | Cancer cell line | Male |
| CVCL_B9G4 | Abcam A-549 CNOT6 KO | Cancer cell line | Male |
| CVCL_D2EI | Abcam MCF-7 CNOT6 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): celiac disease, ovarian carcinoma