NOL11
gene geneOn this page
Also known as DKFZP586L0724
Summary
NOL11 (nucleolar protein 11, HGNC:24557) is a protein-coding gene on chromosome 17q24.2, encoding Nucleolar protein 11 (Q9H8H0). Ribosome biogenesis factor. It is a selective cancer dependency (DepMap: 50.4% of cell lines).
Enables RNA binding activity. Involved in maturation of SSU-rRNA and positive regulation of transcription of nucleolar large rRNA by RNA polymerase I. Located in nucleolus. Part of t-UTP complex.
Source: NCBI Gene 25926 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 113 total
- Cancer dependency (DepMap): dependent in 50.4% of screened cell lines
- MANE Select transcript:
NM_015462
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24557 |
| Approved symbol | NOL11 |
| Name | nucleolar protein 11 |
| Location | 17q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP586L0724 |
| Ensembl gene | ENSG00000130935 |
| Ensembl biotype | protein_coding |
| OMIM | 615366 |
| Entrez | 25926 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 14 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000253247, ENST00000577687, ENST00000580833, ENST00000580914, ENST00000581106, ENST00000581375, ENST00000581966, ENST00000583021, ENST00000583108, ENST00000584032, ENST00000584942, ENST00000898239, ENST00000898240, ENST00000898241, ENST00000898242, ENST00000918418, ENST00000918419, ENST00000918420, ENST00000918421, ENST00000918422, ENST00000955840
RefSeq mRNA: 2 — MANE Select: NM_015462
NM_001303272, NM_015462
CCDS: CCDS11671
Canonical transcript exons
ENST00000253247 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001014651 | 67722580 | 67722637 |
| ENSE00002693725 | 67743743 | 67744531 |
| ENSE00002725015 | 67717936 | 67718088 |
| ENSE00003460466 | 67738122 | 67738355 |
| ENSE00003462129 | 67719906 | 67719962 |
| ENSE00003476560 | 67734363 | 67734439 |
| ENSE00003476615 | 67736666 | 67736754 |
| ENSE00003483842 | 67724049 | 67724193 |
| ENSE00003503142 | 67735900 | 67736023 |
| ENSE00003566349 | 67726460 | 67726648 |
| ENSE00003593189 | 67719674 | 67719787 |
| ENSE00003598071 | 67739516 | 67739608 |
| ENSE00003613910 | 67743479 | 67743586 |
| ENSE00003623564 | 67721378 | 67721526 |
| ENSE00003641873 | 67737847 | 67737972 |
| ENSE00003642198 | 67737508 | 67737692 |
| ENSE00003647850 | 67738932 | 67739010 |
| ENSE00003680420 | 67737071 | 67737145 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 95.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.9689 / max 689.6874, expressed in 1799 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162349 | 35.8188 | 1798 |
| 162348 | 1.1501 | 489 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 95.71 | gold quality |
| embryo | UBERON:0000922 | 95.30 | gold quality |
| cortical plate | UBERON:0005343 | 95.24 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.98 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.04 | gold quality |
| nasopharynx | UBERON:0001728 | 94.03 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.99 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.99 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.55 | gold quality |
| tibia | UBERON:0000979 | 93.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.37 | gold quality |
| hair follicle | UBERON:0002073 | 93.34 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.12 | gold quality |
| parietal pleura | UBERON:0002400 | 92.96 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.92 | gold quality |
| oral cavity | UBERON:0000167 | 92.85 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.69 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.66 | gold quality |
| pleura | UBERON:0000977 | 92.43 | gold quality |
| lymph node | UBERON:0000029 | 92.25 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.16 | gold quality |
| bone marrow | UBERON:0002371 | 92.13 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.01 | gold quality |
| endometrium | UBERON:0001295 | 91.97 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.94 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.93 | gold quality |
| rectum | UBERON:0001052 | 91.93 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.93 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.98 |
| E-HCAD-29 | no | 92.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting NOL11, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-7702 | 99.06 | 65.95 | 698 |
| HSA-MIR-4801 | 98.96 | 69.42 | 2096 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
| HSA-MIR-3161 | 98.71 | 67.14 | 816 |
| HSA-MIR-4731-3P | 98.56 | 68.60 | 1860 |
| HSA-MIR-3977 | 98.00 | 68.17 | 1500 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 50.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- NOL11 is a novel protein required for the early stages of ribosome biogenesis in humans and is implicated in the pathogenesis of North American Indian childhood cirrhosis. (PMID:22916032)
- Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B. (PMID:32479628)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nol11 | ENSDARG00000026767 |
| mus_musculus | Nol11 | ENSMUSG00000018433 |
| rattus_norvegicus | Nol11 | ENSRNOG00000052934 |
| drosophila_melanogaster | CG9300 | FBGN0036886 |
Protein
Protein identifiers
Nucleolar protein 11 — Q9H8H0 (reviewed: Q9H8H0)
All UniProt accessions (4): Q9H8H0, J3QKV1, J3QLQ6, J3QR28
UniProt curated annotations — full annotation on UniProt →
Function. Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A’, A0, 1 and 2b.
Subunit / interactions. Interacts with UTP4. Interacts with FBL/fibrillarin in a transcription-dependent manner. May associate with the proposed t-UTP subcomplex of the SSU processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75.
Subcellular location. Nucleus. Nucleolus.
Miscellaneous. Is the likely candidate for being the functional analog of yeast Utp8. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H8H0-1 | 1 | yes |
| Q9H8H0-2 | 2 |
RefSeq proteins (2): NP_001290201, NP_056277* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012584 | NOL11_N | Domain |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR042859 | NOL11 | Family |
| IPR048897 | Nol11_C | Domain |
Pfam: PF08168, PF20998
UniProt features (5 total): splice variant 2, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8H0-F1 | 78.91 | 0.38 |
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): 346
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 141 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, GOBP_RRNA_TRANSCRIPTION, WEI_MYCN_TARGETS_WITH_E_BOX, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GNF2_FBL, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, REACTOME_METABOLISM_OF_RNA, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME
GO Biological Process (4): maturation of SSU-rRNA (GO:0030490), positive regulation of transcription of nucleolar large rRNA by RNA polymerase I (GO:1901838), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), t-UTP complex (GO:0034455), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| nucleolar large rRNA transcription by RNA polymerase I | 1 |
| positive regulation of transcription by RNA polymerase I | 1 |
| regulation of transcription of nucleolar large rRNA by RNA polymerase I | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nucleolus | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2032 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOL11 | UTP4 | Q969X6 | 889 |
| NOL11 | WDR43 | Q15061 | 760 |
| NOL11 | UTP15 | Q8TED0 | 548 |
| NOL11 | HEATR1 | Q9H583 | 545 |
| NOL11 | WDR75 | Q8IWA0 | 541 |
| NOL11 | UTP6 | Q9NYH9 | 490 |
| NOL11 | UTP20 | O75691 | 447 |
| NOL11 | RRN3 | Q9NYV6 | 413 |
| NOL11 | TFAP2B | Q92481 | 400 |
| NOL11 | POLI | Q9UNA4 | 387 |
| NOL11 | NUTM2F | A1L443 | 385 |
| NOL11 | MDN1 | Q9NU22 | 378 |
| NOL11 | TCOF1 | Q13428 | 375 |
| NOL11 | ENOPH1 | Q9UHY7 | 370 |
| NOL11 | PRRX2 | Q99811 | 369 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UTP4 | WDR43 | psi-mi:“MI:0914”(association) | 0.860 |
| PIK3CB | PIK3R1 | psi-mi:“MI:0914”(association) | 0.840 |
| UTP4 | NOL11 | psi-mi:“MI:0915”(physical association) | 0.820 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| MAD2L1 | INSR | psi-mi:“MI:0914”(association) | 0.700 |
| MPHOSPH6 | MTREX | psi-mi:“MI:0914”(association) | 0.690 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL7 | WDR43 | psi-mi:“MI:0914”(association) | 0.640 |
| FBL | NOL11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARSI | HSPA5 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL11 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| UTP4 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR43 | WDR75 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL19 | MED19 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL7 | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| MAD2L1 | PPIP5K2 | psi-mi:“MI:0914”(association) | 0.530 |
| ACSBG1 | NOL11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNB1 | NOL11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (153): NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), NOL11 (Affinity Capture-MS), UTP15 (Co-fractionation), NOL11 (Affinity Capture-MS), NOL11 (Proximity Label-MS), NOL11 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8GXY4, A4D1P6, A8XSV3, B0JZ65, B0R160, B0WYR6, E9Q7R9, F1REV3, F6S215, O00443, O65418, P50748, Q09178, Q12769, Q17I16, Q19317, Q2TAW0, Q3MHH2, Q402B2, Q4V9P9, Q5R6T6, Q5RAY1, Q5RB52, Q5RE88, Q5ZJY3, Q5ZL79, Q5ZLL7, Q6DTM3, Q6GM71, Q6INI5, Q6P996, Q6X9E4, Q6ZQQ6, Q7TMQ7, Q86XI2, Q8BJW5, Q8BMQ2, Q8C3Y4, Q8K3E5, Q8N157
Diamond homologs: Q3MHH2, Q4V9P9, Q5RB52, Q5ZL79, Q6INI5, Q8BJW5, Q9H8H0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NOL11 | “form complex” | “UTP-A complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 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 |
|---|---|---|---|
| Nuclear RNA decay | 5 | 17.9× | 2e-03 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 11 | 7.9× | 7e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 5 | 19.1× | 1e-03 |
| ribosomal small subunit biogenesis | 7 | 13.7× | 7e-04 |
| positive regulation of fibroblast proliferation | 5 | 12.7× | 6e-03 |
| rRNA processing | 8 | 9.8× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2434 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:67718379:C:G | donor_gain | 1.0000 |
| 17:67719669:A:AG | acceptor_gain | 1.0000 |
| 17:67719669:ATTAG:A | acceptor_gain | 1.0000 |
| 17:67719670:T:G | acceptor_gain | 1.0000 |
| 17:67719670:TTA:T | acceptor_loss | 1.0000 |
| 17:67719671:TA:T | acceptor_loss | 1.0000 |
| 17:67719672:A:AG | acceptor_gain | 1.0000 |
| 17:67719673:G:GG | acceptor_gain | 1.0000 |
| 17:67719673:GGTTT:G | acceptor_gain | 1.0000 |
| 17:67719784:TAAG:T | donor_gain | 1.0000 |
| 17:67719786:AG:A | donor_gain | 1.0000 |
| 17:67719787:GG:G | donor_gain | 1.0000 |
| 17:67719788:G:GG | donor_gain | 1.0000 |
| 17:67719963:G:GG | donor_gain | 1.0000 |
| 17:67721376:A:AG | acceptor_gain | 1.0000 |
| 17:67721376:AGTT:A | acceptor_gain | 1.0000 |
| 17:67721377:G:GT | acceptor_gain | 1.0000 |
| 17:67721377:GT:G | acceptor_gain | 1.0000 |
| 17:67721377:GTT:G | acceptor_gain | 1.0000 |
| 17:67721377:GTTG:G | acceptor_gain | 1.0000 |
| 17:67721377:GTTGT:G | acceptor_gain | 1.0000 |
| 17:67721526:AG:A | donor_loss | 1.0000 |
| 17:67721527:G:GG | donor_gain | 1.0000 |
| 17:67721529:AA:A | donor_loss | 1.0000 |
| 17:67721543:G:GG | donor_gain | 1.0000 |
| 17:67722574:TTGTA:T | acceptor_loss | 1.0000 |
| 17:67722575:TGTAG:T | acceptor_loss | 1.0000 |
| 17:67722576:GTAG:G | acceptor_loss | 1.0000 |
| 17:67722577:TA:T | acceptor_loss | 1.0000 |
| 17:67722578:A:AC | acceptor_loss | 1.0000 |
AlphaMissense
4710 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:67719918:T:A | W90R | 0.995 |
| 17:67719918:T:C | W90R | 0.995 |
| 17:67734389:T:C | F294L | 0.994 |
| 17:67734391:T:A | F294L | 0.994 |
| 17:67734391:T:G | F294L | 0.994 |
| 17:67743488:T:A | W649R | 0.994 |
| 17:67743488:T:C | W649R | 0.994 |
| 17:67719701:T:A | W57R | 0.991 |
| 17:67719701:T:C | W57R | 0.991 |
| 17:67743762:T:C | L688P | 0.990 |
| 17:67719951:T:C | F101L | 0.987 |
| 17:67719953:T:A | F101L | 0.987 |
| 17:67719953:T:G | F101L | 0.987 |
| 17:67719956:A:C | K102N | 0.987 |
| 17:67719956:A:T | K102N | 0.987 |
| 17:67743509:G:C | A656P | 0.987 |
| 17:67734377:T:A | W290R | 0.985 |
| 17:67734377:T:C | W290R | 0.985 |
| 17:67739523:T:C | L617P | 0.984 |
| 17:67718075:T:A | V43D | 0.983 |
| 17:67719957:G:C | A103P | 0.983 |
| 17:67743504:T:C | L654P | 0.983 |
| 17:67743515:T:C | F658L | 0.983 |
| 17:67743517:T:A | F658L | 0.983 |
| 17:67743517:T:G | F658L | 0.983 |
| 17:67734382:C:A | N291K | 0.982 |
| 17:67734382:C:G | N291K | 0.982 |
| 17:67721430:T:A | V122E | 0.981 |
| 17:67719910:T:C | L87S | 0.979 |
| 17:67734390:T:C | F294S | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000004451 (17:67739332 C>A,T), RS1000037729 (17:67735196 G>A), RS1000120857 (17:67724258 T>C), RS1000138067 (17:67729276 C>G), RS1000254915 (17:67724488 C>A,G), RS1000325421 (17:67734932 T>C), RS1000326720 (17:67742105 A>G), RS1000620948 (17:67718455 G>A), RS1000779525 (17:67718853 A>G), RS1001027074 (17:67718784 G>A,C), RS1001036089 (17:67724645 T>C), RS1001061069 (17:67740884 A>G,T), RS1001092770 (17:67730169 A>G), RS1001371064 (17:67743103 A>G), RS1001477965 (17:67719105 T>A)
Disease associations
OMIM: gene MIM:615366 | 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 |
|---|---|---|
| GCST002875_91 | Diisocyanate-induced asthma | 6.000000e-07 |
| GCST005392_1 | Tooth agenesis (maxillary second premolars) | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| afuresertib | decreases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| beta-methylcholine | 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, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
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): tooth agenesis