NOL10
gene geneOn this page
Also known as FLJ14075
Summary
NOL10 (nucleolar protein 10, HGNC:25862) is a protein-coding gene on chromosome 2p25.1, encoding Nucleolar protein 10 (Q9BSC4). It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in nucleolus.
Source: NCBI Gene 79954 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 96 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_024894
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25862 |
| Approved symbol | NOL10 |
| Name | nucleolar protein 10 |
| Location | 2p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14075 |
| Ensembl gene | ENSG00000115761 |
| Ensembl biotype | protein_coding |
| OMIM | 616197 |
| Entrez | 79954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 10 protein_coding, 6 retained_intron, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined
ENST00000345985, ENST00000381685, ENST00000431319, ENST00000473087, ENST00000538384, ENST00000695464, ENST00000695465, ENST00000695466, ENST00000695467, ENST00000695468, ENST00000695469, ENST00000695470, ENST00000695471, ENST00000695472, ENST00000695473, ENST00000695474, ENST00000695475, ENST00000695476, ENST00000695477, ENST00000695478, ENST00000695479, ENST00000695480, ENST00000900361, ENST00000928634, ENST00000928635, ENST00000971267
RefSeq mRNA: 3 — MANE Select: NM_024894
NM_001261392, NM_001261394, NM_024894
CCDS: CCDS1673, CCDS58697, CCDS58698
Canonical transcript exons
ENST00000381685 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000710613 | 10600853 | 10600942 |
| ENSE00000710614 | 10602776 | 10602874 |
| ENSE00000710617 | 10607185 | 10607311 |
| ENSE00000710699 | 10657742 | 10657891 |
| ENSE00000710701 | 10659172 | 10659250 |
| ENSE00000804743 | 10654481 | 10654547 |
| ENSE00000804746 | 10662959 | 10663044 |
| ENSE00000804748 | 10667218 | 10667278 |
| ENSE00001137526 | 10644320 | 10644372 |
| ENSE00001137560 | 10673520 | 10673557 |
| ENSE00001137597 | 10603078 | 10603157 |
| ENSE00001137627 | 10668658 | 10668723 |
| ENSE00001137656 | 10684567 | 10684612 |
| ENSE00001203548 | 10671554 | 10671690 |
| ENSE00003581913 | 10675794 | 10675871 |
| ENSE00003612925 | 10681971 | 10682069 |
| ENSE00003963894 | 10589043 | 10589290 |
| ENSE00003963898 | 10589578 | 10589751 |
| ENSE00003963913 | 10577636 | 10577738 |
| ENSE00003963922 | 10570754 | 10572190 |
| ENSE00003963934 | 10689796 | 10689975 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 97.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2618 / max 354.5567, expressed in 1810 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26879 | 17.2618 | 1810 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.88 | gold quality |
| male germ cell | CL:0000015 | 95.47 | gold quality |
| parotid gland | UBERON:0001831 | 90.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.49 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.29 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.02 | gold quality |
| tendon | UBERON:0000043 | 87.36 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.53 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.35 | gold quality |
| sural nerve | UBERON:0015488 | 85.73 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.88 | gold quality |
| cardia of stomach | UBERON:0001162 | 84.74 | gold quality |
| muscle of leg | UBERON:0001383 | 84.42 | gold quality |
| pancreas | UBERON:0001264 | 84.25 | gold quality |
| body of pancreas | UBERON:0001150 | 84.03 | gold quality |
| gingival epithelium | UBERON:0001949 | 83.97 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 83.93 | gold quality |
| adrenal gland | UBERON:0002369 | 83.88 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.68 | gold quality |
| mammary duct | UBERON:0001765 | 83.60 | gold quality |
| gingiva | UBERON:0001828 | 83.46 | gold quality |
| ventricular zone | UBERON:0003053 | 83.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.36 | gold quality |
| saphenous vein | UBERON:0007318 | 83.35 | gold quality |
| tonsil | UBERON:0002372 | 83.29 | gold quality |
| left adrenal gland | UBERON:0001234 | 83.26 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.25 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.24 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.16 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.67 |
| E-MTAB-6678 | no | 3.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
72 targeting NOL10, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- PQBP5/NOL10 maintains and anchors the nucleolus under physiological and osmotic stress conditions. (PMID:36599853)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nol10 | ENSDARG00000020077 |
| mus_musculus | Nol10 | ENSMUSG00000061458 |
| rattus_norvegicus | Nol10 | ENSRNOG00000005344 |
| drosophila_melanogaster | l(2)34Fd | FBGN0261535 |
| caenorhabditis_elegans | WBGENE00017989 |
Protein
Protein identifiers
Nucleolar protein 10 — Q9BSC4 (reviewed: Q9BSC4)
All UniProt accessions (10): Q9BSC4, A0A8Q3SHS4, A0A8Q3SHT1, A0A8Q3SHT2, A0A8Q3SHT6, A0A8Q3SHW5, A0A8Q3SHX7, A0A8Q3SHY9, A0A8Q3SHZ5, A0A8Q3SIR1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the WD repeat NOL10/ENP2 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BSC4-1 | 1 | yes |
| Q9BSC4-2 | 2 | |
| Q9BSC4-3 | 3 | |
| Q9BSC4-4 | 4 |
RefSeq proteins (3): NP_001248321, NP_001248323, NP_079170* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR012580 | NUC153 | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR040382 | NOL10/Enp2 | Family |
| IPR056550 | NOL10_2nd | Domain |
| IPR056551 | Beta-prop_NOL10_N | Domain |
Pfam: PF08159, PF23097, PF23098
UniProt features (29 total): repeat 7, splice variant 6, modified residue 5, coiled-coil region 3, compositionally biased region 2, sequence conflict 2, region of interest 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BSC4-F1 | 77.60 | 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 (5): 1, 25, 475, 481, 514
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
GOBP_RIBOSOME_BIOGENESIS, chr2p25, GOBP_MATURATION_OF_SSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, BACH2_01, LASTOWSKA_COAMPLIFIED_WITH_MYCN, CREB_Q3, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOCC_PRERIBOSOME, GOCC_SMALL_SUBUNIT_PROCESSOME, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_UP
GO Biological Process (1): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| maturation of SSU-rRNA | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2093 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOL10 | NGDN | Q8NEJ9 | 862 |
| NOL10 | AATF | Q9NY61 | 796 |
| NOL10 | UTP15 | Q8TED0 | 699 |
| NOL10 | NOP58 | Q9Y2X3 | 663 |
| NOL10 | WDR36 | Q8NI36 | 640 |
| NOL10 | RBM34 | P42696 | 597 |
| NOL10 | UTP14A | Q9BVJ6 | 597 |
| NOL10 | PDCD11 | Q14690 | 572 |
| NOL10 | BMS1 | Q14692 | 567 |
| NOL10 | DDX51 | Q8N8A6 | 563 |
| NOL10 | SLC66A3 | Q8N755 | 514 |
| NOL10 | KIAA0513 | O60268 | 506 |
| NOL10 | TBC1D31 | Q96DN5 | 492 |
| NOL10 | NAT10 | Q9H0A0 | 491 |
| NOL10 | KCNF1 | Q9H3M0 | 476 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| rep | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.660 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL10 | DDX10 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| NOL10 | HNRNPM | psi-mi:“MI:0915”(physical association) | 0.400 |
| NELL1 | NOL10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Shoc2 | GABPB1 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| rep | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| SRPK2 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| NOL10 | SRI | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (207): NOL10 (Affinity Capture-MS), NOL10 (Affinity Capture-MS), NOL10 (Affinity Capture-MS), AATF (Co-fractionation), GRWD1 (Co-fractionation), NOL10 (Co-fractionation), NOL10 (Co-fractionation), NOL10 (Co-fractionation), NOL10 (Co-fractionation), NOL10 (Co-fractionation), NOL10 (Co-fractionation), NOL6 (Co-fractionation), PPP5C (Co-fractionation), RBM19 (Co-fractionation), WDR36 (Co-fractionation)
ESM2 similar proteins: A4IG32, A4QNE6, A5D7H2, A7MB16, A8WGE3, F1LNJ2, O43172, O43815, O55106, O60508, O75643, P55884, P58405, P79987, Q13033, Q15542, Q29RZ9, Q3MHE2, Q4G061, Q561Y0, Q569Z1, Q5E9I8, Q5M7F6, Q5M9G8, Q5NVD0, Q5R7H5, Q5RAC9, Q5RJG1, Q5VQ78, Q66H99, Q676U5, Q6DJD8, Q6H8D5, Q6H8D6, Q6NVM6, Q6P4T2, Q7T0Q5, Q8BGF3, Q8C092, Q8C0J2
Diamond homologs: G0S902, O74879, P48234, Q5RJG1, Q66H99, Q6NVM6, Q7T0Q5, Q802W4, Q9BSC4, Q5XGE2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 108 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 |
|---|---|---|---|
| rRNA modification in the nucleus and cytosol | 8 | 20.8× | 4e-07 |
| rRNA processing in the nucleus and cytosol | 7 | 15.6× | 7e-06 |
| Influenza Viral RNA Transcription and Replication | 5 | 15.0× | 3e-04 |
| rRNA processing | 7 | 14.2× | 1e-05 |
| Peptide chain elongation | 8 | 14.1× | 5e-06 |
| Viral mRNA Translation | 8 | 14.1× | 5e-06 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 8 | 13.9× | 5e-06 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 16 | 13.7× | 7e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 10 | 23.5× | 7e-09 |
| cytoplasmic translation | 9 | 17.2× | 6e-07 |
| rRNA processing | 9 | 13.1× | 5e-06 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 12.6× | 2e-03 |
| translation | 9 | 9.5× | 4e-05 |
| mRNA processing | 9 | 7.3× | 3e-04 |
| RNA splicing | 7 | 6.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3806 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:10572187:CAGA:C | acceptor_gain | 1.0000 |
| 2:10572191:C:CC | acceptor_gain | 1.0000 |
| 2:10577631:CTCA:C | donor_loss | 1.0000 |
| 2:10577632:TCA:T | donor_loss | 1.0000 |
| 2:10577633:CA:C | donor_loss | 1.0000 |
| 2:10577634:A:AC | donor_gain | 1.0000 |
| 2:10577634:A:AG | donor_loss | 1.0000 |
| 2:10577634:AC:A | donor_gain | 1.0000 |
| 2:10577634:ACC:A | donor_gain | 1.0000 |
| 2:10577634:ACCCT:A | donor_gain | 1.0000 |
| 2:10577635:C:CC | donor_gain | 1.0000 |
| 2:10577635:CC:C | donor_gain | 1.0000 |
| 2:10577635:CCC:C | donor_gain | 1.0000 |
| 2:10577635:CCCT:C | donor_gain | 1.0000 |
| 2:10577635:CCCTC:C | donor_gain | 1.0000 |
| 2:10577734:TTTTG:T | acceptor_gain | 1.0000 |
| 2:10577735:TTTG:T | acceptor_gain | 1.0000 |
| 2:10577736:TTG:T | acceptor_gain | 1.0000 |
| 2:10577736:TTGC:T | acceptor_loss | 1.0000 |
| 2:10577737:TG:T | acceptor_gain | 1.0000 |
| 2:10577737:TGCTA:T | acceptor_loss | 1.0000 |
| 2:10577738:GCTAT:G | acceptor_loss | 1.0000 |
| 2:10577739:C:CC | acceptor_gain | 1.0000 |
| 2:10577741:A:AC | acceptor_gain | 1.0000 |
| 2:10577741:A:C | acceptor_gain | 1.0000 |
| 2:10589037:AC:A | donor_loss | 1.0000 |
| 2:10589038:C:CA | donor_loss | 1.0000 |
| 2:10589039:TCA:T | donor_loss | 1.0000 |
| 2:10589040:CAC:C | donor_loss | 1.0000 |
| 2:10589041:A:AC | donor_gain | 1.0000 |
AlphaMissense
4530 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:10603109:C:T | G401E | 1.000 |
| 2:10607196:A:G | L381P | 1.000 |
| 2:10607211:A:T | V376D | 1.000 |
| 2:10607213:A:C | F375L | 1.000 |
| 2:10607213:A:T | F375L | 1.000 |
| 2:10607215:A:G | F375L | 1.000 |
| 2:10607290:A:G | W350R | 1.000 |
| 2:10607290:A:T | W350R | 1.000 |
| 2:10607298:G:T | A347D | 1.000 |
| 2:10675846:A:C | C79W | 1.000 |
| 2:10603110:C:A | G401W | 0.999 |
| 2:10603110:C:G | G401R | 0.999 |
| 2:10603110:C:T | G401R | 0.999 |
| 2:10603127:A:G | L395P | 0.999 |
| 2:10603127:A:T | L395H | 0.999 |
| 2:10603145:A:G | L389P | 0.999 |
| 2:10603154:A:G | L386P | 0.999 |
| 2:10607196:A:T | L381H | 0.999 |
| 2:10607214:A:C | F375C | 0.999 |
| 2:10607214:A:G | F375S | 0.999 |
| 2:10607277:A:G | L354S | 0.999 |
| 2:10607285:A:C | C351W | 0.999 |
| 2:10607287:A:G | C351R | 0.999 |
| 2:10607288:C:A | W350C | 0.999 |
| 2:10607288:C:G | W350C | 0.999 |
| 2:10644372:C:T | G325D | 0.999 |
| 2:10657756:A:G | W298R | 0.999 |
| 2:10657756:A:T | W298R | 0.999 |
| 2:10657872:C:G | R259P | 0.999 |
| 2:10659176:C:A | G251V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000004395 (2:10597625 A>G), RS1000005088 (2:10635902 T>A,C), RS1000062597 (2:10586801 GCTTAT>G), RS1000081486 (2:10611656 C>T), RS1000115025 (2:10666415 T>G), RS1000116983 (2:10591874 A>G), RS1000117092 (2:10627280 T>C), RS1000150186 (2:10577526 TC>T), RS1000211799 (2:10683022 A>T), RS1000225402 (2:10689505 G>A), RS1000251323 (2:10681334 A>G), RS1000270258 (2:10687966 C>T), RS1000316938 (2:10581009 A>G), RS1000342026 (2:10653231 T>C), RS1000382944 (2:10654954 A>C)
Disease associations
OMIM: gene MIM:616197 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002606_28 | Prostate cancer | 3.000000e-08 |
| GCST002606_9 | Prostate cancer | 2.000000e-08 |
| GCST008403_33 | Arterial stiffness index | 5.000000e-06 |
| GCST010677_2 | Liver fibrogenesis (alpha smooth muscle actin levels) | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004517 | arterial stiffness measurement |
| EFO:0010576 | liver fibrosis measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| eprenetapopt | affects reaction, affects expression | 1 |
| Erlotinib Hydrochloride | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 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.