CNOT10
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Also known as FLJ12890FLJ13165
Summary
CNOT10 (CCR4-NOT transcription complex subunit 10, HGNC:23817) is a protein-coding gene on chromosome 3p22.3, encoding CCR4-NOT transcription complex subunit 10 (Q9H9A5). 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 regul….
Predicted to be involved in mRNA catabolic process and negative regulation of translation. Located in membrane. Part of CCR4-NOT complex.
Source: NCBI Gene 25904 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 111 total
- Druggable target: yes
- MANE Select transcript:
NM_015442
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23817 |
| Approved symbol | CNOT10 |
| Name | CCR4-NOT transcription complex subunit 10 |
| Location | 3p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12890, FLJ13165 |
| Ensembl gene | ENSG00000182973 |
| Ensembl biotype | protein_coding |
| OMIM | 620508 |
| Entrez | 25904 |
Gene structure
Transcript identifiers
Ensembl transcripts: 48 — 34 protein_coding, 6 protein_coding_CDS_not_defined, 5 retained_intron, 3 nonsense_mediated_decay
ENST00000328834, ENST00000331889, ENST00000416457, ENST00000430408, ENST00000435630, ENST00000454516, ENST00000455381, ENST00000463697, ENST00000466103, ENST00000468599, ENST00000471003, ENST00000473064, ENST00000476967, ENST00000479397, ENST00000481526, ENST00000485136, ENST00000494439, ENST00000556853, ENST00000866038, ENST00000866039, ENST00000866040, ENST00000866041, ENST00000866042, ENST00000866043, ENST00000866044, ENST00000866045, ENST00000866046, ENST00000866047, ENST00000866048, ENST00000866049, ENST00000866050, ENST00000866051, ENST00000933338, ENST00000933339, ENST00000933340, ENST00000933341, ENST00000933342, ENST00000933343, ENST00000933344, ENST00000933345, ENST00000933346, ENST00000969495, ENST00000969496, ENST00000969497, ENST00000969498, ENST00000969499, ENST00000969500, ENST00000969501
RefSeq mRNA: 7 — MANE Select: NM_015442
NM_001256741, NM_001256742, NM_001393366, NM_001393367, NM_001393368, NM_001393369, NM_015442
CCDS: CCDS2655, CCDS58821, CCDS58822
Canonical transcript exons
ENST00000328834 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001875884 | 32773457 | 32773875 |
| ENSE00003491184 | 32734800 | 32734976 |
| ENSE00003496988 | 32703868 | 32703962 |
| ENSE00003501416 | 32708670 | 32708820 |
| ENSE00003522906 | 32733423 | 32733544 |
| ENSE00003526318 | 32764682 | 32764809 |
| ENSE00003533410 | 32716225 | 32716311 |
| ENSE00003546465 | 32725450 | 32725599 |
| ENSE00003565318 | 32727668 | 32727870 |
| ENSE00003574369 | 32720114 | 32720231 |
| ENSE00003577546 | 32764455 | 32764490 |
| ENSE00003589243 | 32759458 | 32759571 |
| ENSE00003598375 | 32713227 | 32713369 |
| ENSE00003598426 | 32717154 | 32717237 |
| ENSE00003621523 | 32769887 | 32769962 |
| ENSE00003640744 | 32704811 | 32704972 |
| ENSE00003653218 | 32762733 | 32762863 |
| ENSE00003653342 | 32737410 | 32737490 |
| ENSE00003930949 | 32685188 | 32685482 |
Expression profiles
Bgee: expression breadth ubiquitous, 204 present calls, max score 94.21.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5694 / max 270.4276, expressed in 1810 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35892 | 12.8411 | 1768 |
| 35891 | 11.3663 | 1768 |
| 35889 | 0.8420 | 592 |
| 35890 | 0.4070 | 188 |
| 35895 | 0.0922 | 26 |
| 35893 | 0.0192 | 4 |
| 35894 | 0.0017 | 1 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 94.21 | gold quality |
| left testis | UBERON:0004533 | 94.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.29 | gold quality |
| testis | UBERON:0000473 | 92.65 | gold quality |
| right uterine tube | UBERON:0001302 | 91.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.51 | gold quality |
| ventricular zone | UBERON:0003053 | 91.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.28 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.10 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.85 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.67 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.94 | gold quality |
| skin of leg | UBERON:0001511 | 89.88 | gold quality |
| bone marrow cell | CL:0002092 | 89.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.86 | gold quality |
| right ovary | UBERON:0002118 | 89.70 | gold quality |
| rectum | UBERON:0001052 | 89.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.64 | gold quality |
| cortical plate | UBERON:0005343 | 89.64 | gold quality |
| granulocyte | CL:0000094 | 89.53 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.34 | gold quality |
| body of pancreas | UBERON:0001150 | 89.32 | gold quality |
| left ovary | UBERON:0002119 | 89.22 | gold quality |
| pituitary gland | UBERON:0000007 | 89.14 | gold quality |
| leukocyte | CL:0000738 | 89.11 | gold quality |
| monocyte | CL:0000576 | 89.10 | gold quality |
| tibial nerve | UBERON:0001323 | 89.00 | gold quality |
| spleen | UBERON:0002106 | 88.96 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.90 | gold quality |
| body of uterus | UBERON:0009853 | 88.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting CNOT10, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-3064-5P | 99.26 | 66.13 | 1497 |
| HSA-MIR-3085-3P | 99.26 | 66.16 | 1490 |
| HSA-MIR-6504-5P | 99.26 | 65.95 | 1487 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-4774-3P | 98.90 | 67.82 | 737 |
| HSA-MIR-500A-5P | 98.76 | 69.13 | 1241 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
| HSA-MIR-3132 | 97.96 | 67.91 | 711 |
| HSA-MIR-197-5P | 97.23 | 68.10 | 596 |
| HSA-MIR-4794 | 96.47 | 65.53 | 1063 |
| HSA-MIR-4435 | 95.90 | 65.47 | 1201 |
| HSA-MIR-664A-5P | 95.84 | 64.93 | 949 |
Literature-anchored findings (GeneRIF, showing 2)
- CNOT11 interacts with the first amino acids of CNOT1 and with CNOT10 and is required for the association of CNOT10 with the CCR4-NOT complex. (PMID:23232451)
- Human CNOT10 and CNOT11 form a complex that interacts with the CNOT1 N-terminal domain. (PMID:23303381)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnot10 | ENSDARG00000058528 |
| mus_musculus | Cnot10 | ENSMUSG00000056167 |
| rattus_norvegicus | Cnot10 | ENSRNOG00000052305 |
| drosophila_melanogaster | Not10 | FBGN0260444 |
Protein
Protein identifiers
CCR4-NOT transcription complex subunit 10 — Q9H9A5 (reviewed: Q9H9A5)
All UniProt accessions (5): Q9H9A5, E9PCN5, H7BZZ7, H7C0K1, H7C1X9
UniProt curated annotations — full annotation on UniProt →
Function. 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. Is not required for association of CNOT7 to the CCR4-NOT complex.
Subunit / interactions. Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits. CNOT10 and CNOT11 form a subcomplex docked to the CNOT1 scaffold.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the CNOT10 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H9A5-1 | 1 | yes |
| Q9H9A5-2 | 2 | |
| Q9H9A5-3 | 3 | |
| Q9H9A5-4 | 4 | |
| Q9H9A5-5 | 5 | |
| Q9H9A5-6 | 6 |
RefSeq proteins (7): NP_001243670, NP_001243671, NP_001380295, NP_001380296, NP_001380297, NP_001380298, NP_056257* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR039740 | CNOT10 | Family |
UniProt features (70 total): helix 31, turn 8, sequence conflict 7, compositionally biased region 5, splice variant 5, region of interest 4, strand 4, sequence variant 2, initiator methionine 1, chain 1, modified residue 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FY3 | ELECTRON MICROSCOPY | 2.88 |
| 8BFI | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9A5-F1 | 79.87 | 0.60 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-429947 | Deadenylation of mRNA |
| 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: 91 (showing top):
GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, REACTOME_DEADENYLATION_OF_MRNA, chr3p22, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_NUCLEAR_TRANSCRIBED_MRNA_CATABOLIC_PROCESS_DEADENYLATION_DEPENDENT_DECAY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_NUCLEAR_TRANSCRIBED_MRNA_POLY_A_TAIL_SHORTENING, REACTOME_METABOLISM_OF_RNA, GOBP_REGULATION_OF_TRANSLATION
GO Biological Process (5): nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289), mRNA catabolic process (GO:0006402), negative regulation of translation (GO:0017148), regulatory ncRNA-mediated gene silencing (GO:0031047), regulation of translation (GO:0006417)
GO Molecular Function (1): protein binding (GO:0005515)
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-3 pathways:
| Category | Pathways |
|---|---|
| Deadenylation-dependent mRNA decay | 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 |
|---|---|
| negative regulation of gene expression | 3 |
| cellular anatomical structure | 3 |
| translation | 2 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| nuclear-transcribed mRNA catabolic process | 1 |
| RNA catabolic process | 1 |
| mRNA metabolic process | 1 |
| regulation of translation | 1 |
| negative regulation of protein metabolic process | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1150 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNOT10 | CNOT2 | Q9NZN8 | 995 |
| CNOT10 | CNOT1 | A5YKK6 | 995 |
| CNOT10 | CNOT3 | O75175 | 995 |
| CNOT10 | CNOT11 | Q9UKZ1 | 994 |
| CNOT10 | CNOT9 | Q92600 | 994 |
| CNOT10 | CNOT6 | Q9ULM6 | 961 |
| CNOT10 | CNOT7 | Q9UIV1 | 959 |
| CNOT10 | CNOT6L | Q96LI5 | 951 |
| CNOT10 | CNOT8 | Q9UFF9 | 915 |
| CNOT10 | CNOT4 | O95628 | 906 |
| CNOT10 | VCF1 | Q969W3 | 775 |
| CNOT10 | CNOT12 | Q9C0C2 | 714 |
| CNOT10 | CCDC127 | Q96BQ5 | 703 |
| CNOT10 | TADA2B | Q86TJ2 | 649 |
| CNOT10 | ZKSCAN5 | Q9Y2L8 | 623 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| CNOT11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.770 |
| CNOT2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| CNOT3 | CNOT1 | psi-mi:“MI:0914”(association) | 0.740 |
| CNOT10 | CNOT11 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CNOT11 | CNOT10 | psi-mi:“MI:0915”(physical association) | 0.740 |
| TOB1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.710 |
| TNRC6C | CNOT1 | psi-mi:“MI:0914”(association) | 0.690 |
| HTT | CNOT10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CNOT10 | CNOT6L | psi-mi:“MI:0915”(physical association) | 0.660 |
| 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 |
| TNRC6C | CNOT1 | psi-mi:“MI:0914”(association) | 0.620 |
| CNOT10 | RAVER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNRC6C | CNOT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (203): CNOT10 (Reconstituted Complex), CNOT10 (Affinity Capture-Western), CNOT10 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS), CNOT10 (Proximity Label-MS)
ESM2 similar proteins: A0JN62, A2RT67, A2RUS2, A2VDU2, A4IFB6, A4IIM3, A7MBL8, B1H2P5, B4F779, O94967, P48553, Q08CL8, Q0VEJ0, Q14161, Q15650, Q3TLI0, Q4R350, Q5RAQ5, Q5RCP7, Q5RDV5, Q5TKA1, Q5XIA4, Q5ZIW2, Q5ZJK1, Q68CZ1, Q6AYF1, Q6QD73, Q7TSG1, Q7ZYH1, Q8BH15, Q8BIK4, Q8BKH7, Q8C735, Q8CG73, Q8CGF6, Q8IWR0, Q8IZQ1, Q8N6S4, Q8N960, Q8NEU8
Diamond homologs: A4IFB6, Q08CL8, Q4R350, Q5XIA4, Q5ZIW2, Q6DE97, Q6NU53, Q8BH15, Q9H9A5, Q9V3G6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CNOT10 | “form complex” | “CCR4-NOT complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 93 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 | 88.2× | 8e-14 |
| Deadenylation of mRNA | 7 | 58.0× | 2e-09 |
| M-decay: degradation of maternal mRNAs by maternally stored factors | 8 | 49.2× | 5e-10 |
| Loss of Nlp from mitotic centrosomes | 6 | 18.0× | 6e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 6 | 18.0× | 6e-05 |
| AURKA Activation by TPX2 | 6 | 17.2× | 7e-05 |
| Recruitment of mitotic centrosome proteins and complexes | 6 | 15.4× | 1e-04 |
| Regulation of PLK1 Activity at G2/M Transition | 6 | 14.4× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nuclear-transcribed mRNA poly(A) tail shortening | 7 | 70.2× | 2e-09 |
| regulation of translation | 7 | 19.1× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
111 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3081 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:32685480:CAGG:C | donor_loss | 1.0000 |
| 3:32685481:AGG:A | donor_loss | 1.0000 |
| 3:32685482:GG:G | donor_loss | 1.0000 |
| 3:32685483:GTAG:G | donor_loss | 1.0000 |
| 3:32685484:T:A | donor_loss | 1.0000 |
| 3:32703963:G:GG | donor_gain | 1.0000 |
| 3:32704809:A:AG | acceptor_gain | 1.0000 |
| 3:32704809:AGTCT:A | acceptor_gain | 1.0000 |
| 3:32704810:G:GG | acceptor_gain | 1.0000 |
| 3:32704810:GTCT:G | acceptor_gain | 1.0000 |
| 3:32704810:GTCTG:G | acceptor_gain | 1.0000 |
| 3:32708667:TA:T | acceptor_loss | 1.0000 |
| 3:32708668:A:AC | acceptor_loss | 1.0000 |
| 3:32708668:A:AG | acceptor_gain | 1.0000 |
| 3:32708669:G:GG | acceptor_gain | 1.0000 |
| 3:32708784:G:GG | donor_gain | 1.0000 |
| 3:32708818:TTGGT:T | donor_loss | 1.0000 |
| 3:32708820:GGTA:G | donor_loss | 1.0000 |
| 3:32708821:G:GG | donor_gain | 1.0000 |
| 3:32708821:GTA:G | donor_loss | 1.0000 |
| 3:32708822:TAT:T | donor_loss | 1.0000 |
| 3:32716223:AGACT:A | acceptor_gain | 1.0000 |
| 3:32716224:GA:G | acceptor_gain | 1.0000 |
| 3:32716224:GACT:G | acceptor_gain | 1.0000 |
| 3:32716224:GACTG:G | acceptor_gain | 1.0000 |
| 3:32717148:T:TA | acceptor_gain | 1.0000 |
| 3:32717149:GACA:G | acceptor_loss | 1.0000 |
| 3:32717151:CA:C | acceptor_loss | 1.0000 |
| 3:32717152:A:AG | acceptor_gain | 1.0000 |
| 3:32717153:G:C | acceptor_loss | 1.0000 |
AlphaMissense
4926 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:32717199:A:G | K236E | 1.000 |
| 3:32717200:A:T | K236I | 1.000 |
| 3:32717201:A:C | K236N | 1.000 |
| 3:32717201:A:T | K236N | 1.000 |
| 3:32717203:G:C | R237T | 1.000 |
| 3:32717203:G:T | R237M | 1.000 |
| 3:32717204:G:C | R237S | 1.000 |
| 3:32717204:G:T | R237S | 1.000 |
| 3:32717211:A:C | K240Q | 1.000 |
| 3:32717211:A:G | K240E | 1.000 |
| 3:32717212:A:T | K240M | 1.000 |
| 3:32717213:G:C | K240N | 1.000 |
| 3:32717213:G:T | K240N | 1.000 |
| 3:32720135:A:G | K256E | 1.000 |
| 3:32720137:A:C | K256N | 1.000 |
| 3:32720137:A:T | K256N | 1.000 |
| 3:32720138:A:C | S257R | 1.000 |
| 3:32720140:C:A | S257R | 1.000 |
| 3:32720140:C:G | S257R | 1.000 |
| 3:32720147:G:A | E260K | 1.000 |
| 3:32720172:A:T | K268I | 1.000 |
| 3:32720173:A:C | K268N | 1.000 |
| 3:32720173:A:T | K268N | 1.000 |
| 3:32720174:G:C | A269P | 1.000 |
| 3:32720175:C:A | A269D | 1.000 |
| 3:32720180:A:G | K271E | 1.000 |
| 3:32720184:T:C | L272P | 1.000 |
| 3:32725481:C:A | N298K | 1.000 |
| 3:32725481:C:G | N298K | 1.000 |
| 3:32725483:T:C | L299P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000033811 (3:32771664 A>C), RS1000045875 (3:32730036 G>T), RS1000079858 (3:32692074 T>C), RS1000112149 (3:32764042 A>G), RS1000154190 (3:32724615 T>C), RS1000154839 (3:32684385 T>C), RS1000164036 (3:32684435 T>C), RS1000190693 (3:32773943 T>C), RS1000214484 (3:32684725 ATAAT>A), RS1000228484 (3:32695475 G>A,T), RS1000240792 (3:32731124 G>A), RS1000242584 (3:32689858 G>A), RS1000294550 (3:32730912 G>A), RS1000308834 (3:32700896 G>A), RS1000314781 (3:32771469 C>T)
Disease associations
OMIM: gene MIM:620508 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009310_25 | Sensorimotor dexterity | 9.000000e-06 |
| GCST010396_189 | Gut microbiota (bacterial taxa, hurdle binary method) | 3.000000e-06 |
| GCST012174_1 | Diabetic retinopathy in type 2 diabetes | 7.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008354 | cognitive function measurement |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105878 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects methylation, decreases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | decreases expression | 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 |
|---|---|---|---|
| CHEMBL4012563 | Binding | Binding affinity to CCR4-NOT transcription complex subunit 10 in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
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): diabetic retinopathy