NOP58
gene geneOn this page
Also known as NOP5HSPC120
Summary
NOP58 (NOP58 ribonucleoprotein, HGNC:29926) is a protein-coding gene on chromosome 2q33.1, encoding Nucleolar protein 58 (Q9Y2X3). Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs.
Source: NCBI Gene 51602 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 82 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015934
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29926 |
| Approved symbol | NOP58 |
| Name | NOP58 ribonucleoprotein |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NOP5, HSPC120 |
| Ensembl gene | ENSG00000055044 |
| Ensembl biotype | protein_coding |
| OMIM | 616742 |
| Entrez | 51602 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000264279, ENST00000426814, ENST00000433543, ENST00000467734, ENST00000472050, ENST00000478508, ENST00000478941, ENST00000488403, ENST00000492688, ENST00000492740, ENST00000919440, ENST00000919441, ENST00000919442, ENST00000919443, ENST00000919444
RefSeq mRNA: 1 — MANE Select: NM_015934
NM_015934
CCDS: CCDS2353
Canonical transcript exons
ENST00000264279 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000803415 | 202295674 | 202295837 |
| ENSE00000964999 | 202291125 | 202291270 |
| ENSE00000965000 | 202292777 | 202292903 |
| ENSE00001246796 | 202303386 | 202303661 |
| ENSE00001828228 | 202265763 | 202265986 |
| ENSE00003489936 | 202300234 | 202300367 |
| ENSE00003524173 | 202277950 | 202278002 |
| ENSE00003539065 | 202284345 | 202284481 |
| ENSE00003555874 | 202290323 | 202290457 |
| ENSE00003556578 | 202287660 | 202287724 |
| ENSE00003564944 | 202302921 | 202303057 |
| ENSE00003575999 | 202275113 | 202275189 |
| ENSE00003611174 | 202282351 | 202282472 |
| ENSE00003645254 | 202297845 | 202297906 |
| ENSE00003670262 | 202297379 | 202297513 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 99.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.9908 / max 1285.2682, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24708 | 93.9903 | 1822 |
| 24714 | 1.0005 | 459 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 99.42 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.74 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.41 | gold quality |
| sural nerve | UBERON:0015488 | 97.34 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.32 | gold quality |
| body of pancreas | UBERON:0001150 | 97.25 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.09 | gold quality |
| tonsil | UBERON:0002372 | 97.06 | gold quality |
| left ovary | UBERON:0002119 | 96.96 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.89 | gold quality |
| right ovary | UBERON:0002118 | 96.73 | gold quality |
| pituitary gland | UBERON:0000007 | 96.71 | gold quality |
| thymus | UBERON:0002370 | 96.69 | gold quality |
| left uterine tube | UBERON:0001303 | 96.68 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.61 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.61 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.60 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.55 | gold quality |
| lymph node | UBERON:0000029 | 96.52 | gold quality |
| gingiva | UBERON:0001828 | 96.49 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.48 | gold quality |
| nasopharynx | UBERON:0001728 | 96.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.41 | gold quality |
| endometrium | UBERON:0001295 | 96.35 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.34 | gold quality |
| vermiform appendix | UBERON:0001154 | 96.33 | gold quality |
| rectum | UBERON:0001052 | 96.25 | gold quality |
| oral cavity | UBERON:0000167 | 96.24 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.23 | gold quality |
| pancreas | UBERON:0001264 | 96.23 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-7 | yes | 1406.57 |
| E-MTAB-9067 | yes | 20.44 |
| E-MTAB-10042 | yes | 14.11 |
| E-GEOD-93593 | yes | 6.95 |
| E-MTAB-7606 | no | 1212.23 |
| E-MTAB-6911 | no | 1102.71 |
| E-GEOD-110499 | no | 1020.62 |
| E-ENAD-21 | no | 766.51 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting NOP58, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-1272 | 99.34 | 68.79 | 878 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-4464 | 98.95 | 67.73 | 820 |
| HSA-MIR-4748 | 98.95 | 67.53 | 810 |
| HSA-MIR-4780 | 98.57 | 64.75 | 611 |
| HSA-MIR-3689A-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689B-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689E | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689F | 98.35 | 70.08 | 1052 |
| HSA-MIR-4669 | 97.94 | 62.71 | 224 |
| HSA-MIR-219B-5P | 97.91 | 65.80 | 531 |
| HSA-MIR-4432 | 97.80 | 67.87 | 705 |
| HSA-MIR-4670-3P | 97.37 | 68.35 | 1378 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- Mammalian and yeast U3 snoRNPs are matured in specific and related nuclear compartments. (PMID:12032086)
- snoRNP assembly factor NUFIP can regulate the interactions between TIP48 and TIP49 and the core box C/D proteins. (PMID:19620283)
- SUMOylation is essential for high-affinity Nop58 binding to small nucleolar riboproteins. (PMID:20797632)
- Bcd1p controls RNA loading of the core protein Nop58 during C/D box snoRNP biogenesis. (PMID:30700579)
- Long noncoding RNA FAM83A-AS1 facilitates hepatocellular carcinoma progression by binding with NOP58 to enhance the mRNA stability of FAM83A. (PMID:31696213)
- NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis. (PMID:33367824)
- Overexpression of NOP58 as a Prognostic Marker in Hepatocellular Carcinoma: A TCGA Data-Based Analysis. (PMID:34014550)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nop58 | ENSDARG00000104353 |
| mus_musculus | Nop58 | ENSMUSG00000026020 |
| rattus_norvegicus | Nop58 | ENSRNOG00000016486 |
| drosophila_melanogaster | nop5 | FBGN0026196 |
| caenorhabditis_elegans | nol-58 | WBGENE00020915 |
Paralogs (1): NOP56 (ENSG00000101361)
Protein
Protein identifiers
Nucleolar protein 58 — Q9Y2X3 (reviewed: Q9Y2X3)
Alternative names: Nucleolar protein 5
All UniProt accessions (3): Q9Y2X3, F8WED0, H7BZ72
UniProt curated annotations — full annotation on UniProt →
Function. Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs).
Subunit / interactions. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles; the core proteins SNU13, NOP56, NOP58 and FBL or FBLL1 assemble stepwise onto the snoRNA. Interacts with NOLC1/Nopp140. Interacts with NOPCHAP1, NUFIP1, RUVBL1 and RUVBL2; NOPCHAP1 bridges the association of NOP58 with RUVBL1:RUVBL2 and NUFIP1. Interacts with PIH1D1. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus. Nucleoplasm.
Tissue specificity. Ubiquitous.
Post-translational modifications. Sumoylation is essential for high-affinity binding to snoRNAs.
Similarity. Belongs to the NOP5/NOP56 family.
RefSeq proteins (1): NP_057018* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002687 | Nop_dom | Domain |
| IPR012974 | NOP58/56_N | Domain |
| IPR012976 | NOSIC | Domain |
| IPR036070 | Nop_dom_sf | Homologous_superfamily |
| IPR042239 | Nop_C | Homologous_superfamily |
| IPR045056 | Nop56/Nop58 | Family |
Pfam: PF01798, PF08156
UniProt features (41 total): cross-link 15, modified residue 7, sequence conflict 5, sequence variant 4, compositionally biased region 4, region of interest 2, mutagenesis site 2, chain 1, domain 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-Q9Y2X3-F1 | 75.38 | 0.35 |
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 (22): 304, 351, 483, 502, 514, 157, 353, 411, 415, 422, 426, 441, 444, 465, 467, 467, 467, 485, 497, 497 …
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 283 | restricted to nucleoplasm. abolishes interaction with nopchap1. |
| 310–313 | restricted to nucleoplasm. decreases interaction with nopchap1. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-4570464 | SUMOylation of RNA binding proteins |
| 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: 185 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, PAL_PRMT5_TARGETS_UP, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_RNA_METHYLATION, GOBP_MRNA_MODIFICATION, GHO_ATF5_TARGETS_UP, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1
GO Biological Process (4): rRNA processing (GO:0006364), ribosomal small subunit biogenesis (GO:0042274), snoRNA localization (GO:0048254), ribosome biogenesis (GO:0042254)
GO Molecular Function (5): TFIID-class transcription factor complex binding (GO:0001094), RNA binding (GO:0003723), snoRNA binding (GO:0030515), ATPase binding (GO:0051117), protein binding (GO:0005515)
GO Cellular Component (12): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), nucleolus (GO:0005730), sno(s)RNA-containing ribonucleoprotein complex (GO:0005732), cytosol (GO:0005829), Cajal body (GO:0015030), membrane (GO:0016020), box C/D methylation guide snoRNP complex (GO:0031428), small-subunit processome (GO:0032040), pre-snoRNP complex (GO:0070761), nucleus (GO:0005634), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| SUMO E3 ligases SUMOylate target proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| nucleolus | 2 |
| nuclear lumen | 2 |
| ribonucleoprotein complex | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| RNA localization | 1 |
| RNA polymerase II general transcription initiation factor binding | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| enzyme binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| box C/D RNP complex | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
3670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOP58 | FBL | P22087 | 999 |
| NOP58 | SNU13 | P55769 | 998 |
| NOP58 | NOP56 | O00567 | 989 |
| NOP58 | RRP9 | O43818 | 964 |
| NOP58 | NHP2 | Q9NX24 | 963 |
| NOP58 | DKC1 | O60832 | 917 |
| NOP58 | PIH1D1 | Q9NWS0 | 864 |
| NOP58 | RUVBL2 | Q9Y230 | 820 |
| NOP58 | NOP10 | Q9NPE3 | 811 |
| NOP58 | RUVBL1 | P82276 | 809 |
| NOP58 | PWP2 | Q15269 | 767 |
| NOP58 | UTP15 | Q8TED0 | 753 |
| NOP58 | BMS1 | Q14692 | 749 |
| NOP58 | TBL3 | Q12788 | 748 |
| NOP58 | UTP4 | Q969X6 | 743 |
IntAct
168 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| NOP58 | FBL | psi-mi:“MI:0914”(association) | 0.800 |
| FBL | NOP56 | psi-mi:“MI:0914”(association) | 0.800 |
| MED9 | MED19 | psi-mi:“MI:0914”(association) | 0.790 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| MED19 | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TGS1 | NOP58 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| TGS1 | NOP58 | psi-mi:“MI:0915”(physical association) | 0.660 |
| DDX21 | DKC1 | psi-mi:“MI:0914”(association) | 0.640 |
| NEMP1 | RGPD8 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| NOP58 | NOP56 | psi-mi:“MI:0914”(association) | 0.640 |
| NUFIP1 | NOP58 | psi-mi:“MI:0914”(association) | 0.600 |
| NOP58 | SNU13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOP58 | NOPCHAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| BCOR | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TGS1 | SNRNP70 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| CSNK2A1 | NOP58 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| NOP58 | SERPINH1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| THUMPD2 | NOP58 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| Snu13 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (438): NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), NOP58 (Biochemical Activity), NOP58 (Affinity Capture-MS), NOP58 (Biochemical Activity), NOP58 (Affinity Capture-MS), NOP58 (Affinity Capture-MS), DCAF13 (Co-fractionation), DDX24 (Co-fractionation), DDX27 (Co-fractionation)
ESM2 similar proteins: A1CL70, A1D688, A2QE38, A3LUT0, A5DHW0, A5E4V9, A6QYH8, A6RMY5, A6ZPE5, A7F2R6, A7TIF5, O00567, O04658, O94514, P0CP02, P0CP03, P0CP26, P0CP27, P0CP58, P0CP59, P39730, Q0CQH1, Q10251, Q12460, Q12499, Q1E1Q5, Q21276, Q2UC04, Q3SZ63, Q4PBF2, Q4R779, Q4WYK9, Q54MT2, Q55FI4, Q59S06, Q5B8G3, Q5RA29, Q6BIX6, Q6CG46, Q6CKR8
Diamond homologs: A1CL70, A1D688, A2QE38, A3LUT0, A5DHW0, A5E4V9, A6QYH8, A6RMY5, A6ZPE5, A7F2R6, A7TIF5, O00567, O04656, O04658, O94514, P0CP26, P0CP27, Q0CQH1, Q12460, Q12499, Q1E1Q5, Q21276, Q2UC04, Q3SZ63, Q4PBF2, Q4R779, Q4WYK9, Q54MT2, Q55FI4, Q58105, Q59S06, Q5B8G3, Q5RA29, Q6BIX6, Q6CG46, Q6CKR8, Q6DFW4, Q6FQ21, Q753I4, Q8X066
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NOP58 | “form complex” | “U3 snoRNP” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 179 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| NLS-bearing protein import into nucleus | 7 | 38.7× | 3e-07 |
| positive regulation of transcription elongation by RNA polymerase II | 7 | 14.5× | 3e-04 |
| mRNA stabilization | 5 | 12.6× | 8e-03 |
| rRNA processing | 8 | 7.8× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1455397 | NC_000002.11:g.(?202566574)(203424669_?)del | Pathogenic |
SpliceAI
2311 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:202275102:T:G | acceptor_gain | 1.0000 |
| 2:202275106:A:AG | acceptor_gain | 1.0000 |
| 2:202275107:TTACA:T | acceptor_loss | 1.0000 |
| 2:202275108:TACA:T | acceptor_loss | 1.0000 |
| 2:202275109:A:AG | acceptor_gain | 1.0000 |
| 2:202275110:CAGG:C | acceptor_loss | 1.0000 |
| 2:202275111:A:AG | acceptor_gain | 1.0000 |
| 2:202275111:AG:A | acceptor_gain | 1.0000 |
| 2:202275111:AGGTT:A | acceptor_loss | 1.0000 |
| 2:202275112:G:GG | acceptor_gain | 1.0000 |
| 2:202275112:GG:G | acceptor_gain | 1.0000 |
| 2:202275112:GGT:G | acceptor_gain | 1.0000 |
| 2:202275112:GGTT:G | acceptor_gain | 1.0000 |
| 2:202275112:GGTTC:G | acceptor_gain | 1.0000 |
| 2:202275185:AAAAT:A | donor_gain | 1.0000 |
| 2:202275186:AAAT:A | donor_gain | 1.0000 |
| 2:202275187:AAT:A | donor_gain | 1.0000 |
| 2:202275187:AATGT:A | donor_loss | 1.0000 |
| 2:202275188:AT:A | donor_gain | 1.0000 |
| 2:202275189:TG:T | donor_loss | 1.0000 |
| 2:202275190:G:GG | donor_gain | 1.0000 |
| 2:202277942:A:AG | acceptor_gain | 1.0000 |
| 2:202277943:A:G | acceptor_gain | 1.0000 |
| 2:202277948:A:AG | acceptor_gain | 1.0000 |
| 2:202277949:G:GG | acceptor_gain | 1.0000 |
| 2:202277949:GA:G | acceptor_gain | 1.0000 |
| 2:202278001:AGG:A | donor_loss | 1.0000 |
| 2:202278002:GGTAA:G | donor_loss | 1.0000 |
| 2:202278003:G:C | donor_loss | 1.0000 |
| 2:202278004:T:G | donor_loss | 1.0000 |
AlphaMissense
3474 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:202290379:T:A | W186R | 1.000 |
| 2:202290379:T:C | W186R | 1.000 |
| 2:202290388:T:A | W189R | 1.000 |
| 2:202290388:T:C | W189R | 1.000 |
| 2:202291217:G:A | G243R | 1.000 |
| 2:202291217:G:C | G243R | 1.000 |
| 2:202292799:G:C | R268P | 1.000 |
| 2:202295742:T:C | F326L | 1.000 |
| 2:202295744:C:A | F326L | 1.000 |
| 2:202295744:C:G | F326L | 1.000 |
| 2:202295782:G:A | G339D | 1.000 |
| 2:202265969:G:C | G10R | 0.999 |
| 2:202265970:G:A | G10D | 0.999 |
| 2:202284391:T:C | L115P | 0.999 |
| 2:202284406:G:C | R120P | 0.999 |
| 2:202284477:C:G | H144D | 0.999 |
| 2:202287682:T:C | F153L | 0.999 |
| 2:202287684:T:A | F153L | 0.999 |
| 2:202287684:T:G | F153L | 0.999 |
| 2:202287700:G:C | D159H | 0.999 |
| 2:202287708:G:A | M161I | 0.999 |
| 2:202287708:G:C | M161I | 0.999 |
| 2:202287708:G:T | M161I | 0.999 |
| 2:202287718:G:C | A165P | 0.999 |
| 2:202290350:T:C | L176P | 0.999 |
| 2:202290354:C:A | N177K | 0.999 |
| 2:202290354:C:G | N177K | 0.999 |
| 2:202290366:G:A | M181I | 0.999 |
| 2:202290366:G:C | M181I | 0.999 |
| 2:202290366:G:T | M181I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000026848 (2:202293614 C>G,T), RS1000053207 (2:202280513 A>C,G), RS1000126627 (2:202280668 T>C), RS1000136804 (2:202287357 C>T), RS1000174334 (2:202276201 G>A), RS1000221571 (2:202269823 C>A,G,T), RS1000273846 (2:202270243 G>C), RS1000293485 (2:202268605 G>A), RS1000299017 (2:202287592 T>C,G), RS1000390041 (2:202282503 C>T), RS1000481689 (2:202301666 G>A,T), RS1000624449 (2:202269897 C>T), RS1000656927 (2:202270187 A>C), RS1000726453 (2:202303809 G>A), RS1000817585 (2:202264543 C>T)
Disease associations
OMIM: gene MIM:616742 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067121 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.54 | Kd | 28.69 | nM | CHEMBL3752910 |
| 7.54 | ED50 | 28.69 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 | 2149899: Binding affinity to human NOP58 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0287 | uM |
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression | 3 |
| deoxynivalenol | increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| nivalenol | increases expression | 2 |
| Plant Extracts | increases expression, decreases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization | 1 |
| coumarin | increases phosphorylation | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| deguelin | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | 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 |
| pyrimidifen | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases 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 |
|---|---|---|---|
| CHEMBL5652941 | Binding | Binding affinity to human NOP58 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.