MRPL46
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Also known as LIECG2P2ECSLmL46
Summary
MRPL46 (mitochondrial ribosomal protein L46, HGNC:1192) is a protein-coding gene on chromosome 15q25.3, encoding Large ribosomal subunit protein mL46 (Q9H2W6). It is a selective cancer dependency (DepMap: 28.9% of cell lines).
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein.
Source: NCBI Gene 26589 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 58 total
- Cancer dependency (DepMap): dependent in 28.9% of screened cell lines
- MANE Select transcript:
NM_022163
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1192 |
| Approved symbol | MRPL46 |
| Name | mitochondrial ribosomal protein L46 |
| Location | 15q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LIECG2, P2ECSL, mL46 |
| Ensembl gene | ENSG00000259494 |
| Ensembl biotype | protein_coding |
| OMIM | 611851 |
| Entrez | 26589 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000312475, ENST00000558531, ENST00000558660, ENST00000559538, ENST00000560703, ENST00000887805, ENST00000887806, ENST00000962924
RefSeq mRNA: 1 — MANE Select: NM_022163
NM_022163
CCDS: CCDS10341
Canonical transcript exons
ENST00000312475 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001186022 | 88459478 | 88459863 |
| ENSE00001592515 | 88467150 | 88467388 |
| ENSE00003609738 | 88465587 | 88465773 |
| ENSE00003649655 | 88464703 | 88464876 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 96.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.1744 / max 118.0912, expressed in 1809 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151383 | 20.1744 | 1809 |
Top tissues by expression
140 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 96.05 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.43 | gold quality |
| apex of heart | UBERON:0002098 | 94.98 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.78 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.37 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.28 | gold quality |
| muscle of leg | UBERON:0001383 | 94.14 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.81 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.76 | gold quality |
| adrenal gland | UBERON:0002369 | 93.63 | gold quality |
| heart | UBERON:0000948 | 93.20 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.01 | gold quality |
| liver | UBERON:0002107 | 92.50 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.28 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.76 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.74 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.68 | gold quality |
| muscle tissue | UBERON:0002385 | 91.10 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.77 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.65 | gold quality |
| rectum | UBERON:0001052 | 89.65 | gold quality |
| frontal cortex | UBERON:0001870 | 89.49 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.18 | gold quality |
| transverse colon | UBERON:0001157 | 89.16 | gold quality |
| placenta | UBERON:0001987 | 89.13 | gold quality |
| body of stomach | UBERON:0001161 | 89.11 | gold quality |
| left testis | UBERON:0004533 | 88.93 | gold quality |
| fundus of stomach | UBERON:0001160 | 88.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.19 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
3 targeting MRPL46, 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-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-2467-5P | 97.36 | 67.71 | 991 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 28.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Expression is enriched in testis. Positioned to chromosome 15q24 by radiation hybrid mapping. (PMID:11761714)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mrpl46 | ENSDARG00000016307 |
| mus_musculus | Mrpl46 | ENSMUSG00000030612 |
| rattus_norvegicus | Mrpl46 | ENSRNOG00000018547 |
| drosophila_melanogaster | mRpL46 | FBGN0035272 |
| caenorhabditis_elegans | WBGENE00021935 |
Protein
Protein identifiers
Large ribosomal subunit protein mL46 — Q9H2W6 (reviewed: Q9H2W6)
Alternative names: 39S ribosomal protein L46, mitochondrial, P2ECSL
All UniProt accessions (4): A0A087WT51, A0A087WT90, H0YN64, Q9H2W6
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL46 is located at the central protuberance.
Subcellular location. Mitochondrion.
Similarity. Belongs to the mitochondrion-specific ribosomal protein mL46 family.
RefSeq proteins (1): NP_071446* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR021757 | Ribosomal_mL46_N | Domain |
| IPR033650 | Ribosomal_mL46_NUDIX | Domain |
| IPR040008 | Ribosomal_mL46 | Family |
Pfam: PF11788
UniProt features (31 total): strand 15, helix 9, turn 2, transit peptide 1, chain 1, modified residue 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
82 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OF0 | ELECTRON MICROSCOPY | 2.2 |
| 7QI4 | ELECTRON MICROSCOPY | 2.21 |
| 8RRI | ELECTRON MICROSCOPY | 2.4 |
| 8QU5 | ELECTRON MICROSCOPY | 2.42 |
| 9OLF | ELECTRON MICROSCOPY | 2.46 |
| 7OF7 | ELECTRON MICROSCOPY | 2.5 |
| 7PO4 | ELECTRON MICROSCOPY | 2.56 |
| 6ZM6 | ELECTRON MICROSCOPY | 2.59 |
| 7O9M | ELECTRON MICROSCOPY | 2.6 |
| 7OF6 | ELECTRON MICROSCOPY | 2.6 |
| 9CN3 | ELECTRON MICROSCOPY | 2.62 |
| 7QI5 | ELECTRON MICROSCOPY | 2.63 |
| 7OF2 | ELECTRON MICROSCOPY | 2.7 |
| 7OF3 | ELECTRON MICROSCOPY | 2.7 |
| 7OF4 | ELECTRON MICROSCOPY | 2.7 |
| 9PR4 | ELECTRON MICROSCOPY | 2.77 |
| 9PRA | ELECTRON MICROSCOPY | 2.83 |
| 8ANY | ELECTRON MICROSCOPY | 2.85 |
| 6ZM5 | ELECTRON MICROSCOPY | 2.89 |
| 7ODR | ELECTRON MICROSCOPY | 2.9 |
| 7OF5 | ELECTRON MICROSCOPY | 2.9 |
| 8K2A | ELECTRON MICROSCOPY | 2.9 |
| 8OIT | ELECTRON MICROSCOPY | 2.9 |
| 9PGL | ELECTRON MICROSCOPY | 2.9 |
| 9PGF | ELECTRON MICROSCOPY | 2.93 |
| 6VMI | ELECTRON MICROSCOPY | 2.96 |
| 6VLZ | ELECTRON MICROSCOPY | 2.97 |
| 7QI6 | ELECTRON MICROSCOPY | 2.98 |
| 9PSM | ELECTRON MICROSCOPY | 2.98 |
| 8QSJ | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2W6-F1 | 80.43 | 0.48 |
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): 230
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-5368286 | Mitochondrial translation initiation |
| R-HSA-5389840 | Mitochondrial translation elongation |
| R-HSA-5419276 | Mitochondrial translation termination |
| R-HSA-9937383 | Mitochondrial ribosome-associated quality control |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5368287 | Mitochondrial translation |
| R-HSA-72766 | Translation |
MSigDB gene sets: 133 (showing top):
GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GAVIN_FOXP3_TARGETS_CLUSTER_T7, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_RIBOSOMAL_SUBUNIT, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX, MANALO_HYPOXIA_DN
GO Biological Process (1): mitochondrial translation (GO:0032543)
GO Molecular Function (1): structural constituent of ribosome (GO:0003735)
GO Cellular Component (8): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), cytosol (GO:0005829), cell junction (GO:0030054), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial translation | 4 |
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| mitochondrion | 1 |
| translation | 1 |
| mitochondrial gene expression | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| organellar large ribosomal subunit | 1 |
| mitochondrial ribosome | 1 |
| mitochondrial protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2462 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MRPL46 | MRPL1 | Q9BYD6 | 618 |
| MRPL46 | MRPL40 | Q9NQ50 | 593 |
| MRPL46 | MRPL54 | Q6P161 | 585 |
| MRPL46 | MRPL44 | Q9H9J2 | 573 |
| MRPL46 | RANBP6 | O60518 | 546 |
| MRPL46 | AGFG2 | O95081 | 544 |
| MRPL46 | MRPS9 | P82933 | 539 |
| MRPL46 | MRPS14 | O60783 | 514 |
| MRPL46 | SRP72 | O76094 | 505 |
| MRPL46 | MRPS15 | P82914 | 489 |
| MRPL46 | DARS2 | Q6PI48 | 472 |
| MRPL46 | MRPL53 | Q96EL3 | 467 |
| MRPL46 | MRPS11 | P82912 | 463 |
| MRPL46 | MRPL36 | Q9P0J6 | 460 |
| MRPL46 | KATNB1 | Q9BVA0 | 458 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| MRPL37 | HSPD1 | psi-mi:“MI:0914”(association) | 0.710 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| ETFRF1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL46 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL42 | GATC | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL41 | MRPL3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL46 | MRPL55 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (255): MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL48 (Affinity Capture-MS), MRPL40 (Affinity Capture-MS), LYRM5 (Affinity Capture-MS), MRPL55 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), NDUFAB1 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS)
ESM2 similar proteins: A9UMP7, B0BM20, B0S6U7, D6WIX5, O95801, P19686, P19687, P34384, P42704, P57075, Q02108, Q0IHP3, Q13057, Q14C51, Q2KI62, Q2KIS2, Q32LU7, Q32N55, Q3U2U7, Q3V3E1, Q4G069, Q4ZHS0, Q5EA11, Q5M9G9, Q5R8E4, Q5RBU2, Q5REY8, Q5SGE0, Q66K14, Q6DJ55, Q6PA48, Q6PB66, Q80Y81, Q8BYI6, Q8CGS5, Q8HY87, Q8N159, Q8R4H7, Q91YM4, Q96DB5
Diamond homologs: O94398, Q5RBU2, Q7S1Z3, Q9H2W6, P36528, Q3SZ22, Q5RK00, Q9EQI8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MRPL46 | “form complex” | “39S mitochondrial large ribosomal subunit” | binding |
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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 32 | 51.0× | 6e-46 |
| Mitochondrial translation initiation | 29 | 47.8× | 1e-40 |
| Mitochondrial translation elongation | 29 | 47.8× | 1e-40 |
| Mitochondrial translation | 26 | 46.5× | 5e-36 |
| Mitochondrial translation termination | 29 | 41.4× | 1e-38 |
| Translation | 28 | 22.6× | 2e-29 |
| Mitochondrial protein degradation | 6 | 8.9× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial translation | 31 | 58.5× | 2e-45 |
| translation | 22 | 24.6× | 2e-22 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1268 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:88462737:C:CT | acceptor_gain | 1.0000 |
| 15:88465557:T:A | donor_gain | 1.0000 |
| 15:88465629:C:CA | donor_gain | 1.0000 |
| 15:88465636:ATCTT:A | donor_gain | 1.0000 |
| 15:88465637:T:C | donor_gain | 1.0000 |
| 15:88465640:T:TA | donor_gain | 1.0000 |
| 15:88467175:T:TA | donor_gain | 1.0000 |
| 15:88459861:TTT:T | acceptor_gain | 0.9900 |
| 15:88459861:TTTCT:T | acceptor_loss | 0.9900 |
| 15:88459862:TTC:T | acceptor_loss | 0.9900 |
| 15:88459863:TC:T | acceptor_loss | 0.9900 |
| 15:88459864:C:A | acceptor_loss | 0.9900 |
| 15:88459864:C:CC | acceptor_gain | 0.9900 |
| 15:88459865:T:A | acceptor_loss | 0.9900 |
| 15:88460155:AGTT:A | donor_gain | 0.9900 |
| 15:88461290:A:AC | donor_gain | 0.9900 |
| 15:88462738:A:T | acceptor_gain | 0.9900 |
| 15:88464698:CCCA:C | donor_loss | 0.9900 |
| 15:88464699:CCA:C | donor_loss | 0.9900 |
| 15:88464700:CAC:C | donor_loss | 0.9900 |
| 15:88464701:A:AG | donor_loss | 0.9900 |
| 15:88464702:CCT:C | donor_loss | 0.9900 |
| 15:88464881:A:T | acceptor_gain | 0.9900 |
| 15:88465585:ACC:A | donor_loss | 0.9900 |
| 15:88465586:CCT:C | donor_loss | 0.9900 |
| 15:88465633:CATAT:C | donor_gain | 0.9900 |
| 15:88465636:AT:A | donor_gain | 0.9900 |
| 15:88465663:AT:A | donor_gain | 0.9900 |
| 15:88465664:T:TA | donor_gain | 0.9900 |
| 15:88465769:TCAAT:T | acceptor_gain | 0.9900 |
AlphaMissense
1802 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:88459693:A:G | W254R | 0.984 |
| 15:88459693:A:T | W254R | 0.984 |
| 15:88459757:G:C | F232L | 0.981 |
| 15:88459757:G:T | F232L | 0.981 |
| 15:88459759:A:G | F232L | 0.981 |
| 15:88464723:C:G | R190P | 0.972 |
| 15:88459691:C:A | W254C | 0.969 |
| 15:88459691:C:G | W254C | 0.969 |
| 15:88459747:C:G | A236P | 0.969 |
| 15:88464839:C:A | R151S | 0.969 |
| 15:88464839:C:G | R151S | 0.969 |
| 15:88464781:A:G | W171R | 0.968 |
| 15:88464781:A:T | W171R | 0.968 |
| 15:88459746:G:T | A236E | 0.964 |
| 15:88464729:G:T | A188D | 0.961 |
| 15:88464840:C:A | R151M | 0.961 |
| 15:88467214:C:G | R55P | 0.958 |
| 15:88459628:A:C | F275L | 0.957 |
| 15:88459628:A:T | F275L | 0.957 |
| 15:88459630:A:G | F275L | 0.957 |
| 15:88464840:C:G | R151T | 0.955 |
| 15:88467230:C:G | A50P | 0.954 |
| 15:88459638:A:T | V272D | 0.952 |
| 15:88459827:G:T | P209H | 0.951 |
| 15:88464822:A:G | L157P | 0.946 |
| 15:88467229:G:T | A50E | 0.946 |
| 15:88459758:A:G | F232S | 0.941 |
| 15:88467224:A:G | C52R | 0.941 |
| 15:88467233:C:G | G49R | 0.941 |
| 15:88459755:A:G | F233S | 0.936 |
dbSNP variants (sampled 300 via entrez): RS1000088800 (15:88466395 T>G), RS1000183225 (15:88466131 A>C), RS1000531418 (15:88460479 T>C), RS1000988299 (15:88459727 G>C,T), RS1000998180 (15:88460003 A>G,T), RS1001131473 (15:88461759 C>T), RS1001449830 (15:88463124 G>C), RS1001503495 (15:88463376 C>T), RS1001747901 (15:88469016 A>G), RS1001897891 (15:88465075 G>A), RS1002505035 (15:88461973 G>A), RS1002561198 (15:88462562 G>C), RS1002692391 (15:88467364 A>G), RS1003006136 (15:88467550 G>A,C,T), RS1004358900 (15:88465189 G>C)
Disease associations
OMIM: gene MIM:611851 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | affects cotreatment, decreases expression | 3 |
| sodium arsenite | affects binding, increases reaction, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): prostate cancer