NOC2L
gene geneOn this page
Also known as DKFZP564C186NET7NET15NIRPPP1R112
Summary
NOC2L (NOC2 like nucleolar associated transcriptional repressor, HGNC:24517) is a protein-coding gene on chromosome 1p36.33, encoding Nucleolar complex protein 2 homolog (Q9Y3T9). Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. It is a selective cancer dependency (DepMap: 83.5% of cell lines).
Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).
Source: NCBI Gene 26155 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 202 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 83.5% of screened cell lines
- MANE Select transcript:
NM_015658
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24517 |
| Approved symbol | NOC2L |
| Name | NOC2 like nucleolar associated transcriptional repressor |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564C186, NET7, NET15, NIR, PPP1R112 |
| Ensembl gene | ENSG00000188976 |
| Ensembl biotype | protein_coding |
| OMIM | 610770 |
| Entrez | 26155 |
Gene structure
Transcript identifiers
Ensembl transcripts: 69 — 64 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000327044, ENST00000469563, ENST00000477976, ENST00000483767, ENST00000487214, ENST00000496938, ENST00000870725, ENST00000870726, ENST00000870727, ENST00000870728, ENST00000870729, ENST00000870730, ENST00000870731, ENST00000870732, ENST00000870733, ENST00000870734, ENST00000870735, ENST00000870736, ENST00000870737, ENST00000870738, ENST00000870739, ENST00000934932, ENST00000934933, ENST00000934934, ENST00000934935, ENST00000934936, ENST00000934937, ENST00000934938, ENST00000934939, ENST00000934940, ENST00000934941, ENST00000934942, ENST00000934943, ENST00000934944, ENST00000934945, ENST00000934946, ENST00000934947, ENST00000934948, ENST00000934949, ENST00000934950, ENST00000934951, ENST00000934952, ENST00000934953, ENST00000934954, ENST00000934955, ENST00000934956, ENST00000934957, ENST00000934958, ENST00000934959, ENST00000968805, ENST00000968806, ENST00000968807, ENST00000968808, ENST00000968809, ENST00000968810, ENST00000968811, ENST00000968812, ENST00000968813, ENST00000968814, ENST00000968815, ENST00000968816, ENST00000968817, ENST00000968818, ENST00000968819, ENST00000968820, ENST00000968821, ENST00000968822, ENST00000968823, ENST00000968824
RefSeq mRNA: 1 — MANE Select: NM_015658
NM_015658
CCDS: CCDS3
Canonical transcript exons
ENST00000327044 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001375393 | 945057 | 945146 |
| ENSE00001380352 | 954004 | 954082 |
| ENSE00001926296 | 959215 | 959256 |
| ENSE00003486680 | 944203 | 944800 |
| ENSE00003500440 | 948490 | 948603 |
| ENSE00003521833 | 951127 | 951238 |
| ENSE00003527689 | 952000 | 952139 |
| ENSE00003554589 | 946402 | 946545 |
| ENSE00003560627 | 953175 | 953288 |
| ENSE00003567731 | 956894 | 957025 |
| ENSE00003589494 | 956095 | 956215 |
| ENSE00003591928 | 958929 | 959081 |
| ENSE00003602238 | 953782 | 953892 |
| ENSE00003603800 | 946173 | 946286 |
| ENSE00003620005 | 957099 | 957273 |
| ENSE00003638394 | 952412 | 952600 |
| ENSE00003657824 | 948131 | 948232 |
| ENSE00003682181 | 945518 | 945653 |
| ENSE00003687250 | 955923 | 956013 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 97.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.4801 / max 270.8328, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9669 | 34.4689 | 1814 |
| 9668 | 0.0112 | 6 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 97.55 | gold quality |
| right uterine tube | UBERON:0001302 | 95.95 | gold quality |
| left testis | UBERON:0004533 | 95.60 | gold quality |
| right testis | UBERON:0004534 | 95.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.38 | gold quality |
| skin of leg | UBERON:0001511 | 95.33 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.11 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.92 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.90 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.68 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.68 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.65 | gold quality |
| endocervix | UBERON:0000458 | 94.64 | gold quality |
| muscle of leg | UBERON:0001383 | 94.61 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.57 | gold quality |
| left uterine tube | UBERON:0001303 | 94.38 | gold quality |
| apex of heart | UBERON:0002098 | 94.32 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.31 | gold quality |
| ectocervix | UBERON:0012249 | 94.29 | gold quality |
| body of pancreas | UBERON:0001150 | 94.19 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.92 | gold quality |
| body of uterus | UBERON:0009853 | 93.92 | gold quality |
| esophagus | UBERON:0001043 | 93.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.86 | gold quality |
| body of stomach | UBERON:0001161 | 93.67 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.54 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.52 | gold quality |
| left ovary | UBERON:0002119 | 93.47 | gold quality |
| lower esophagus | UBERON:0013473 | 93.44 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | no | 178.04 |
| E-ANND-3 | no | 5.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting NOC2L, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-4501 | 98.72 | 67.19 | 921 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5002-3P | 95.75 | 67.04 | 542 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 83.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Upon recruitment by p53, NIR represses transcription of both p53-dependent reporters and endogenous target genes (PMID:16322561)
- Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its DNA-binding domain and subsequent functional suppression. (PMID:20959462)
- A transcriptional repressor NIR functions in the rRNA biogenesis of both the 40S and 60S subunits. (PMID:22363708)
- LncRNA NOC2L-4.1 functions as a tumor oncogene in cervical cancer progression by regulating the miR-630/YAP1 pathway. (PMID:31099044)
- NIR promotes progression of colorectal cancer through regulating RB. (PMID:32931817)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | noc2l | ENSDARG00000001754 |
| mus_musculus | Noc2l | ENSMUSG00000095567 |
| rattus_norvegicus | Noc2l | ENSRNOG00000021392 |
| drosophila_melanogaster | Noc2 | FBGN0032925 |
| caenorhabditis_elegans | WBGENE00007413 |
Protein
Protein identifiers
Nucleolar complex protein 2 homolog — Q9Y3T9 (reviewed: Q9Y3T9)
Alternative names: NOC2-like protein, Novel INHAT repressor
All UniProt accessions (1): Q9Y3T9
UniProt curated annotations — full annotation on UniProt →
Function. Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter.
Subunit / interactions. Interacts with p53/TP53. Interacts (via the N- and C-terminus domains) with AURKB (via the middle kinase domain). Interacts with TP63 isoform TA*-gamma (via activation domain). Interacts with histone H3 (via N-terminus and non-acetylated form preferentially). Associates with core histones and nucleosomes.
Subcellular location. Nucleus. Nucleoplasm. Nucleolus.
Induction. Up-regulated by IL4 and CD40L in B-cells.
Similarity. Belongs to the NOC2 family.
RefSeq proteins (1): NP_056473* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005343 | Noc2 | Family |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
Pfam: PF03715
UniProt features (21 total): modified residue 7, compositionally biased region 5, region of interest 3, sequence variant 3, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3T9-F1 | 70.96 | 0.31 |
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 (7): 56, 93, 672, 673, 678, 746, 49
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
MSigDB gene sets: 142 (showing top):
GOBP_RIBOSOME_BIOGENESIS, BENPORATH_ES_WITH_H3K27ME3, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_REGULATION_OF_LYMPHOCYTE_APOPTOTIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, MUELLER_PLURINET, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_APOPTOTIC_SIGNALING_PATHWAY, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_RESPONSE_TO_UV, GOBP_RESPONSE_TO_RADIATION, GOBP_REGULATION_OF_B_CELL_APOPTOTIC_PROCESS
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), negative regulation of B cell apoptotic process (GO:0002903), apoptotic process (GO:0006915), cellular response to UV (GO:0034644), ribosomal large subunit biogenesis (GO:0042273), transcription initiation-coupled chromatin remodeling (GO:0045815), negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)
GO Molecular Function (7): chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), nucleosome binding (GO:0031491), histone binding (GO:0042393), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytosol (GO:0005829), Noc1p-Noc2p complex (GO:0030690), Noc2p-Noc3p complex (GO:0030691)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of TP53 Activity | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| intracellular membraneless organelle | 2 |
| preribosome, large subunit precursor | 2 |
| Noc complex | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| B cell apoptotic process | 1 |
| regulation of B cell apoptotic process | 1 |
| negative regulation of lymphocyte apoptotic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| response to UV | 1 |
| cellular response to light stimulus | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| positive regulation of gene expression, epigenetic | 1 |
| intrinsic apoptotic signaling pathway | 1 |
| negative regulation of intracellular signal transduction | 1 |
| negative regulation of apoptotic signaling pathway | 1 |
| regulation of intrinsic apoptotic signaling pathway | 1 |
| transcription coregulator activity | 1 |
| nucleic acid binding | 1 |
| chromatin binding | 1 |
| protein-containing complex binding | 1 |
| protein binding | 1 |
| transcription factor binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| 90S preribosome | 1 |
Protein interactions and networks
STRING
2990 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOC2L | CPSF4 | O95639 | 882 |
| NOC2L | TAF1B | Q53T94 | 825 |
| NOC2L | CD1A | P06126 | 702 |
| NOC2L | CD1B | P29016 | 698 |
| NOC2L | CD1C | P29017 | 656 |
| NOC2L | NKRF | O15226 | 579 |
| NOC2L | GLUL | P15104 | 571 |
| NOC2L | NIFK | Q9BYG3 | 559 |
| NOC2L | CYCS | P00001 | 535 |
| NOC2L | TP53 | P04637 | 529 |
| NOC2L | PMAIP1 | Q13794 | 497 |
| NOC2L | BOP1 | Q14137 | 475 |
| NOC2L | MORN3 | Q6PF18 | 442 |
| NOC2L | MAK16 | Q9BXY0 | 440 |
| NOC2L | NOL6 | Q9H6R4 | 423 |
| NOC2L | WDR74 | Q6RFH5 | 423 |
IntAct
191 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| TP53 | NOC2L | psi-mi:“MI:0914”(association) | 0.630 |
| NOC2L | TP53 | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| NOC2L | TP53 | psi-mi:“MI:0915”(physical association) | 0.630 |
| TP53 | NOC2L | psi-mi:“MI:0915”(physical association) | 0.630 |
| EED | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (381): NOC2L (Affinity Capture-RNA), NOC2L (Affinity Capture-RNA), NOC2L (Affinity Capture-RNA), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), NOC2L (Affinity Capture-MS), LRIF1 (Two-hybrid), CEBPZ (Co-fractionation), DDX52 (Co-fractionation)
ESM2 similar proteins: A0A8I6ASZ5, A0JN53, A4IG66, D3Z8X7, D3ZND0, G3X992, O00750, O08836, O70576, P0DKR2, Q15021, Q1JQC5, Q1L5Z9, Q1LWH4, Q1LXZ7, Q2YD98, Q3T1I9, Q3TV65, Q3UJU9, Q4R5Q4, Q5EAU9, Q5JTW2, Q5R6Z1, Q5TC12, Q61249, Q66H15, Q6NY52, Q6P5E6, Q6PBQ2, Q6PI26, Q80TE0, Q80V31, Q80XC6, Q8BIW9, Q8BM55, Q8K2Z4, Q8R3L2, Q8VDP4, Q8WVB6, Q92574
Diamond homologs: O13874, P39744, Q9Y3T9, Q3SYU1, Q9P7G0, Q9VIF0, Q9WV70
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 219 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 |
|---|---|---|---|
| Peptide chain elongation | 15 | 12.7× | 1e-10 |
| Viral mRNA Translation | 15 | 12.7× | 1e-10 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 15 | 12.6× | 1e-10 |
| Selenocysteine synthesis | 15 | 12.0× | 2e-10 |
| Eukaryotic Translation Termination | 15 | 12.0× | 2e-10 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 15 | 11.8× | 2e-10 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 15 | 11.8× | 2e-10 |
| Formation of a pool of free 40S subunits | 15 | 11.2× | 3e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 16 | 15.0× | 1e-11 |
| ribosomal large subunit biogenesis | 6 | 13.5× | 1e-03 |
| negative regulation of viral genome replication | 6 | 11.4× | 2e-03 |
| ribosomal small subunit biogenesis | 9 | 10.4× | 5e-05 |
| translation | 18 | 9.4× | 5e-10 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 8.7× | 2e-03 |
| negative regulation of translation | 8 | 8.0× | 1e-03 |
| rRNA processing | 11 | 7.9× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
202 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 152 |
| Likely benign | 17 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3986 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:943696:A:AG | acceptor_gain | 1.0000 |
| 1:943696:AG:A | acceptor_gain | 1.0000 |
| 1:943697:G:GT | acceptor_gain | 1.0000 |
| 1:943697:GG:G | acceptor_gain | 1.0000 |
| 1:943697:GGT:G | acceptor_gain | 1.0000 |
| 1:943697:GGTC:G | acceptor_gain | 1.0000 |
| 1:943697:GGTCT:G | acceptor_gain | 1.0000 |
| 1:943804:CCCAG:C | donor_loss | 1.0000 |
| 1:943806:CAGG:C | donor_loss | 1.0000 |
| 1:943807:AGG:A | donor_loss | 1.0000 |
| 1:943808:GG:G | donor_loss | 1.0000 |
| 1:943810:T:G | donor_loss | 1.0000 |
| 1:944691:G:A | donor_gain | 1.0000 |
| 1:944701:T:TA | donor_gain | 1.0000 |
| 1:944798:CAT:C | acceptor_gain | 1.0000 |
| 1:944800:TCT:T | acceptor_loss | 1.0000 |
| 1:944801:CTGC:C | acceptor_loss | 1.0000 |
| 1:945055:AC:A | donor_gain | 1.0000 |
| 1:945055:ACCCT:A | donor_gain | 1.0000 |
| 1:945056:C:CA | donor_gain | 1.0000 |
| 1:945056:CCCT:C | donor_gain | 1.0000 |
| 1:945056:CCCTC:C | donor_gain | 1.0000 |
| 1:945059:T:TA | donor_gain | 1.0000 |
| 1:945074:T:TA | donor_gain | 1.0000 |
| 1:945077:T:TA | donor_gain | 1.0000 |
| 1:945086:T:TA | donor_gain | 1.0000 |
| 1:945089:T:TA | donor_gain | 1.0000 |
| 1:945142:TATCC:T | acceptor_gain | 1.0000 |
| 1:945143:ATCC:A | acceptor_gain | 1.0000 |
| 1:945144:TCC:T | acceptor_gain | 1.0000 |
AlphaMissense
4902 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:952469:G:C | F378L | 0.997 |
| 1:952469:G:T | F378L | 0.997 |
| 1:952471:A:G | F378L | 0.997 |
| 1:957193:A:G | L87P | 0.997 |
| 1:952088:A:G | W415R | 0.996 |
| 1:952088:A:T | W415R | 0.996 |
| 1:953273:A:G | W302R | 0.996 |
| 1:953273:A:T | W302R | 0.996 |
| 1:957195:G:C | F86L | 0.996 |
| 1:957195:G:T | F86L | 0.996 |
| 1:957197:A:G | F86L | 0.996 |
| 1:952440:A:G | L388P | 0.995 |
| 1:952115:A:G | W406R | 0.994 |
| 1:952115:A:T | W406R | 0.994 |
| 1:952437:C:G | R389P | 0.994 |
| 1:952113:C:A | W406C | 0.993 |
| 1:952113:C:G | W406C | 0.993 |
| 1:952098:G:C | C411W | 0.991 |
| 1:952458:C:G | R382P | 0.991 |
| 1:952452:A:G | L384P | 0.989 |
| 1:953175:C:A | K334N | 0.989 |
| 1:953175:C:G | K334N | 0.989 |
| 1:952123:A:T | V403E | 0.988 |
| 1:957226:A:G | L76P | 0.988 |
| 1:952100:A:G | C411R | 0.987 |
| 1:952432:C:G | A391P | 0.986 |
| 1:952585:A:C | Y340D | 0.986 |
| 1:956911:A:G | W157R | 0.986 |
| 1:956911:A:T | W157R | 0.986 |
| 1:957204:G:C | F83L | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000008901 (1:958723 A>G), RS1000863568 (1:948243 G>C,T), RS1000874657 (1:944746 G>A,C), RS1000993358 (1:951560 G>C), RS1001299910 (1:944978 A>C,G), RS1001328077 (1:950667 ACACAG>A), RS1001512918 (1:954310 C>T), RS1001681776 (1:957931 A>G), RS1001732729 (1:958155 G>A,C), RS1001970046 (1:957169 A>T), RS1002086733 (1:955157 C>A), RS1002165788 (1:953452 C>A), RS1002240891 (1:960751 C>A), RS1002243745 (1:955329 G>A), RS1002424672 (1:948399 T>C)
Disease associations
OMIM: gene MIM:610770 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005434_1 | Pancreatic cancer | 8.000000e-14 |
| GCST009305_9 | California verbal learning test score | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067289 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.20 | Kd | 636.8 | nM | CHEMBL3752910 |
| 6.20 | ED50 | 636.8 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148877: Binding affinity to human NOC2L incubated for 45 mins by Kinobead based pull down assay | kd | 0.6368 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 4 |
| Arsenic | increases expression, affects methylation, increases abundance | 2 |
| Dexamethasone | decreases expression, affects cotreatment, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Smoke | increases abundance, increases expression, decreases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases 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 | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Benztropine | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Clozapine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5651919 | Binding | Binding affinity to human NOC2L incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.