NOL8
gene geneOn this page
Also known as FLJ20736Nop132
Summary
NOL8 (nucleolar protein 8, HGNC:23387) is a protein-coding gene on chromosome 9q22.31, encoding Nucleolar protein 8 (Q76FK4). Plays an essential role in the survival of diffuse-type gastric cancer cells. It is a common-essential gene (DepMap: required in 90.6% of cancer cell lines).
NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).
Source: NCBI Gene 55035 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 198 total
- Cancer dependency (DepMap): dependent in 90.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017948
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23387 |
| Approved symbol | NOL8 |
| Name | nucleolar protein 8 |
| Location | 9q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20736, Nop132 |
| Ensembl gene | ENSG00000198000 |
| Ensembl biotype | protein_coding |
| OMIM | 611534 |
| Entrez | 55035 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 14 protein_coding, 9 nonsense_mediated_decay, 5 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000358855, ENST00000360868, ENST00000411621, ENST00000421075, ENST00000432670, ENST00000433029, ENST00000434228, ENST00000442668, ENST00000445919, ENST00000463593, ENST00000467230, ENST00000477862, ENST00000482475, ENST00000535387, ENST00000535649, ENST00000535807, ENST00000536593, ENST00000536624, ENST00000538215, ENST00000538802, ENST00000542053, ENST00000542573, ENST00000542613, ENST00000543260, ENST00000543985, ENST00000544321, ENST00000544867, ENST00000545444, ENST00000545558, ENST00000884405, ENST00000958984
RefSeq mRNA: 3 — MANE Select: NM_017948
NM_001256394, NM_001330722, NM_017948
CCDS: CCDS47993, CCDS59135, CCDS83384
Canonical transcript exons
ENST00000442668 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001467615 | 92297358 | 92297886 |
| ENSE00002207654 | 92325306 | 92325350 |
| ENSE00003466506 | 92299890 | 92300016 |
| ENSE00003505649 | 92301551 | 92301822 |
| ENSE00003510159 | 92324023 | 92324209 |
| ENSE00003515851 | 92319221 | 92319356 |
| ENSE00003541743 | 92310553 | 92310675 |
| ENSE00003543451 | 92298257 | 92298336 |
| ENSE00003551538 | 92305753 | 92305830 |
| ENSE00003555060 | 92323441 | 92323503 |
| ENSE00003555381 | 92318618 | 92318686 |
| ENSE00003556685 | 92314267 | 92316138 |
| ENSE00003579144 | 92310171 | 92310261 |
| ENSE00003629345 | 92311146 | 92311259 |
| ENSE00003666045 | 92321668 | 92321746 |
| ENSE00003683950 | 92298884 | 92298954 |
| ENSE00003694142 | 92306886 | 92307024 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 96.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.8902 / max 416.2548, expressed in 1789 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101414 | 19.9935 | 1785 |
| 101415 | 0.8967 | 557 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.66 | gold quality |
| body of pancreas | UBERON:0001150 | 92.02 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 91.80 | gold quality |
| body of uterus | UBERON:0009853 | 91.66 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.65 | gold quality |
| endocervix | UBERON:0000458 | 91.64 | gold quality |
| tendon | UBERON:0000043 | 91.63 | gold quality |
| left ovary | UBERON:0002119 | 91.57 | gold quality |
| tibial nerve | UBERON:0001323 | 91.53 | gold quality |
| right ovary | UBERON:0002118 | 91.51 | gold quality |
| spleen | UBERON:0002106 | 91.37 | gold quality |
| right uterine tube | UBERON:0001302 | 91.35 | gold quality |
| skin of leg | UBERON:0001511 | 91.29 | gold quality |
| sural nerve | UBERON:0015488 | 91.05 | gold quality |
| left uterine tube | UBERON:0001303 | 90.80 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.70 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.57 | gold quality |
| right coronary artery | UBERON:0001625 | 90.48 | gold quality |
| ovary | UBERON:0000992 | 90.46 | gold quality |
| peritoneum | UBERON:0002358 | 90.44 | gold quality |
| omental fat pad | UBERON:0010414 | 90.44 | gold quality |
| lymph node | UBERON:0000029 | 90.40 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.35 | gold quality |
| zone of skin | UBERON:0000014 | 90.32 | gold quality |
| vagina | UBERON:0000996 | 90.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.31 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.28 | gold quality |
| granulocyte | CL:0000094 | 90.24 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.22 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting NOL8, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-2115-3P | 99.31 | 69.68 | 2026 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-6794-3P | 98.76 | 66.99 | 894 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-548AO-5P | 98.55 | 69.57 | 1362 |
| HSA-MIR-548AX | 98.55 | 69.58 | 1362 |
| HSA-MIR-561-5P | 98.25 | 68.13 | 1365 |
| HSA-MIR-6841-3P | 98.08 | 66.54 | 604 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 90.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- nucleolar protein 132(Nop132) is associated with the GTP form, but not the GDP form, of ras-related GTP binding protein RRAG A, suggesting that RRAG A might regulate Nop132 function (PMID:14660641)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nol8 | ENSDARG00000044143 |
| mus_musculus | Nol8 | ENSMUSG00000021392 |
| rattus_norvegicus | Nol8 | ENSRNOG00000046968 |
| drosophila_melanogaster | CG14230 | FBGN0031062 |
| caenorhabditis_elegans | WBGENE00010638 |
Protein
Protein identifiers
Nucleolar protein 8 — Q76FK4 (reviewed: Q76FK4)
Alternative names: Nucleolar protein Nop132
All UniProt accessions (12): A0A0A0MSJ1, F5GWN9, F5GXV1, F5H0I5, Q76FK4, F5H101, F5H532, F5H692, F5H797, F5H7D5, F5H8B8, F8WE42
UniProt curated annotations — full annotation on UniProt →
Function. Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells.
Subunit / interactions. Interacts with the GTP form of RRAGA, RRAGC and RRAGD. Interacts with NIP7. Interacts with DDX18; the interaction is RNA-dependent. Interacts with DDX47; the interaction is RNA-dependent.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in various diffuse-type gastric cancers. Detected at lower levels in skeletal muscle.
Post-translational modifications. Phosphorylated.
Induction. Up-regulated in diffuse-type gastric cancers.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76FK4-1 | 1 | yes |
| Q76FK4-2 | 2 | |
| Q76FK4-4 | 4 |
RefSeq proteins (3): NP_001243323, NP_001317651, NP_060418* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034138 | NOP8_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (68 total): modified residue 24, compositionally biased region 14, region of interest 8, sequence conflict 8, sequence variant 5, cross-link 3, coiled-coil region 2, splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76FK4-F1 | 55.25 | 0.08 |
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 (27): 268, 298, 302, 304, 331, 365, 376, 378, 381, 432, 723, 795, 801, 837, 838, 843, 845, 888, 890, 1036 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 140 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr9q22, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, CHANDRAN_METASTASIS_UP, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GRADE_COLON_AND_RECTAL_CANCER_UP, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (2): rRNA processing (GO:0006364), protein localization to nucleolus (GO:1902570)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (3): chromosome (GO:0005694), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| intracellular membraneless organelle | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| protein localization to nucleus | 1 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1372 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOL8 | NIP7 | Q9Y221 | 954 |
| NOL8 | RRAGC | Q9HB90 | 824 |
| NOL8 | RRAGD | Q9NQL2 | 819 |
| NOL8 | RRAGA | Q7L523 | 736 |
| NOL8 | ZNHIT6 | Q9NWK9 | 485 |
| NOL8 | RRP36 | Q96EU6 | 468 |
| NOL8 | TAF1D | Q9H5J8 | 446 |
| NOL8 | DDX47 | Q9H0S4 | 445 |
| NOL8 | MRPL52 | Q86TS9 | 437 |
| NOL8 | DAZAP1 | Q96EP5 | 432 |
| NOL8 | POLR3C | Q9BUI4 | 427 |
| NOL8 | SLCO6A1 | Q86UG4 | 406 |
| NOL8 | ARHGEF28 | Q8N1W1 | 402 |
| NOL8 | POLE2 | P56282 | 388 |
| NOL8 | MDC1 | Q14676 | 387 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED19 | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN31 | DHX57 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| NOL8 | IMMT | psi-mi:“MI:0915”(physical association) | 0.400 |
| NOL8 | TCERG1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NOL8 | MAF1b1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| rl3_rl3l_human | NKRF | psi-mi:“MI:0914”(association) | 0.350 |
| rl3_rl3l_human | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL36 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ILF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3C | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL13A | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ABT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL15 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFBP1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF8 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL4 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (168): NOL8 (Affinity Capture-RNA), NOL8 (Affinity Capture-RNA), NOL8 (Affinity Capture-RNA), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Synthetic Lethality), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), NOL8 (Affinity Capture-MS), WDR89 (Affinity Capture-MS), URB1 (Affinity Capture-MS)
ESM2 similar proteins: A0A3Q2UEI8, A0JNH9, A2BIL8, A8PUI7, B1H1S4, B2GUZ2, E7FAP1, E9Q309, F1R983, O60284, P49452, P51960, P86345, Q0P5H2, Q3T0A6, Q3T8J9, Q4KLP8, Q4QY64, Q4R731, Q535K8, Q563C3, Q58EL7, Q5FBB7, Q5QJE6, Q5VT06, Q5XG21, Q65Z40, Q6KAQ7, Q6NWJ0, Q6P0N0, Q6P6I6, Q76FK4, Q7YQM1, Q7YQM2, Q80WQ8, Q8C263, Q8C551, Q8IYH5, Q8NA57, Q8R2M2
Diamond homologs: Q3UHX0, Q76FK4, Q9FGT1, Q9HFE6, Q9VWD4, Q57014, O74400
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 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 | 13 | 22.6× | 8e-13 |
| Viral mRNA Translation | 13 | 22.6× | 8e-13 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 22.4× | 8e-13 |
| Selenocysteine synthesis | 13 | 21.4× | 1e-12 |
| Eukaryotic Translation Termination | 13 | 21.4× | 1e-12 |
| Response of EIF2AK4 (GCN2) to amino acid deficiency | 14 | 21.3× | 4e-13 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 13 | 21.0× | 1e-12 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 21.0× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 14 | 27.9× | 4e-14 |
| negative regulation of translation | 8 | 16.9× | 4e-06 |
| rRNA processing | 10 | 15.2× | 2e-07 |
| translation | 13 | 14.4× | 2e-09 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 13.1× | 3e-03 |
| ribosomal small subunit biogenesis | 5 | 12.2× | 4e-03 |
| RNA splicing | 9 | 8.5× | 1e-04 |
| mRNA processing | 7 | 5.9× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
198 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 160 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2734 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:92297882:CAATC:C | acceptor_gain | 1.0000 |
| 9:92297887:C:CC | acceptor_gain | 1.0000 |
| 9:92298251:A:AC | donor_gain | 1.0000 |
| 9:92298252:C:CC | donor_gain | 1.0000 |
| 9:92298253:TCACC:T | donor_loss | 1.0000 |
| 9:92298254:CA:C | donor_loss | 1.0000 |
| 9:92298255:A:AC | donor_gain | 1.0000 |
| 9:92298255:A:C | donor_loss | 1.0000 |
| 9:92298255:AC:A | donor_gain | 1.0000 |
| 9:92298256:C:CC | donor_gain | 1.0000 |
| 9:92298256:C:T | donor_loss | 1.0000 |
| 9:92298256:CC:C | donor_gain | 1.0000 |
| 9:92298256:CCA:C | donor_gain | 1.0000 |
| 9:92298256:CCAT:C | donor_gain | 1.0000 |
| 9:92298256:CCATA:C | donor_gain | 1.0000 |
| 9:92298333:GAAC:G | acceptor_gain | 1.0000 |
| 9:92298335:AC:A | acceptor_gain | 1.0000 |
| 9:92298336:CCTAT:C | acceptor_gain | 1.0000 |
| 9:92298337:C:CC | acceptor_gain | 1.0000 |
| 9:92298338:T:A | acceptor_loss | 1.0000 |
| 9:92298879:CTGA:C | donor_loss | 1.0000 |
| 9:92298950:CTTCT:C | acceptor_gain | 1.0000 |
| 9:92298951:TTCT:T | acceptor_gain | 1.0000 |
| 9:92298953:CT:C | acceptor_gain | 1.0000 |
| 9:92298954:TC:T | acceptor_loss | 1.0000 |
| 9:92298955:C:CC | acceptor_gain | 1.0000 |
| 9:92298956:T:C | acceptor_loss | 1.0000 |
| 9:92298970:C:CT | acceptor_gain | 1.0000 |
| 9:92298971:A:T | acceptor_gain | 1.0000 |
| 9:92299884:GTTTA:G | donor_loss | 1.0000 |
AlphaMissense
7831 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:92318672:G:C | S144R | 0.997 |
| 9:92318672:G:T | S144R | 0.997 |
| 9:92318674:T:G | S144R | 0.997 |
| 9:92318683:A:G | W141R | 0.996 |
| 9:92318683:A:T | W141R | 0.996 |
| 9:92310220:G:C | F879L | 0.995 |
| 9:92310220:G:T | F879L | 0.995 |
| 9:92310222:A:G | F879L | 0.995 |
| 9:92318666:A:C | F146L | 0.995 |
| 9:92318666:A:T | F146L | 0.995 |
| 9:92318668:A:G | F146L | 0.995 |
| 9:92323482:G:T | A54E | 0.995 |
| 9:92310202:A:C | F885L | 0.994 |
| 9:92310202:A:T | F885L | 0.994 |
| 9:92310204:A:G | F885L | 0.994 |
| 9:92310221:A:G | F879S | 0.993 |
| 9:92316125:T:C | D167G | 0.991 |
| 9:92318673:C:A | S144I | 0.991 |
| 9:92310574:A:C | F858L | 0.990 |
| 9:92310574:A:T | F858L | 0.990 |
| 9:92310576:A:G | F858L | 0.990 |
| 9:92318658:A:T | V149D | 0.990 |
| 9:92318660:T:A | R148S | 0.990 |
| 9:92318660:T:G | R148S | 0.990 |
| 9:92318681:C:A | W141C | 0.990 |
| 9:92318681:C:G | W141C | 0.990 |
| 9:92321676:A:C | F91L | 0.990 |
| 9:92321676:A:T | F91L | 0.990 |
| 9:92321678:A:G | F91L | 0.990 |
| 9:92323484:A:C | F53L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000206376 (9:92317105 A>C), RS1000207659 (9:92323136 G>A), RS1000263503 (9:92325752 G>T), RS1000484012 (9:92309974 C>T), RS1000558245 (9:92319165 C>G), RS1000640533 (9:92303374 A>C,G), RS1000694786 (9:92303566 C>T), RS1001156711 (9:92310355 A>C,T), RS1001342348 (9:92325199 C>T), RS1001359878 (9:92298138 C>G), RS1001563256 (9:92317578 G>C), RS1001621057 (9:92311889 C>A), RS1001642918 (9:92297240 T>C), RS1001644122 (9:92301534 G>A), RS1001676134 (9:92304413 T>C)
Disease associations
OMIM: gene MIM:611534 | 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 |
|---|---|---|
| GCST010725_16 | Malaria | 9.000000e-06 |
| GCST010725_28 | Malaria | 6.000000e-06 |
| GCST010725_95 | Malaria | 6.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| Hydrogen Peroxide | affects expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| salinomycin | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
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.