LCOR
gene geneOn this page
Also known as MLR2FLJ38026KIAA1795DKFZP564P1916FLJ13022
Summary
LCOR (ligand dependent nuclear receptor corepressor, HGNC:29503) is a protein-coding gene on chromosome 10q24.1, encoding Ligand-dependent corepressor (Q96JN0). May act as transcription activator that binds DNA elements with the sequence 5’-CCCTATCGATCGATCTCTACCT-3'.
LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).
Source: NCBI Gene 84458 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 60 total
- MANE Select transcript:
NM_001346516
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29503 |
| Approved symbol | LCOR |
| Name | ligand dependent nuclear receptor corepressor |
| Location | 10q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MLR2, FLJ38026, KIAA1795, DKFZP564P1916, FLJ13022 |
| Ensembl gene | ENSG00000196233 |
| Ensembl biotype | protein_coding |
| OMIM | 607698 |
| Entrez | 84458 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 23 protein_coding, 9 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000356016, ENST00000371097, ENST00000371103, ENST00000421806, ENST00000463415, ENST00000469510, ENST00000493486, ENST00000540664, ENST00000674725, ENST00000674796, ENST00000675117, ENST00000675125, ENST00000675151, ENST00000675250, ENST00000675251, ENST00000675471, ENST00000675537, ENST00000675687, ENST00000675902, ENST00000675915, ENST00000675971, ENST00000676067, ENST00000676123, ENST00000676187, ENST00000676257, ENST00000676314, ENST00000676373, ENST00000676381, ENST00000676414, ENST00000874571, ENST00000874572, ENST00000874573, ENST00000931941, ENST00000931942, ENST00000931943, ENST00000931944
RefSeq mRNA: 4 — MANE Select: NM_001346516
NM_001170765, NM_001170766, NM_001346516, NM_032440
CCDS: CCDS53561, CCDS7451, CCDS86132
Canonical transcript exons
ENST00000421806 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001097431 | 96907668 | 96907747 |
| ENSE00001097435 | 96944113 | 96944245 |
| ENSE00001097437 | 96907265 | 96907330 |
| ENSE00001139835 | 96833406 | 96833479 |
| ENSE00001414342 | 96949008 | 96949295 |
| ENSE00001661157 | 96980793 | 96995956 |
| ENSE00002222993 | 96832298 | 96832399 |
| ENSE00003592556 | 96952103 | 96952196 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 98.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.6332 / max 303.6484, expressed in 1797 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106413 | 14.7035 | 1784 |
| 106414 | 1.4521 | 790 |
| 106412 | 1.0162 | 392 |
| 106416 | 0.7165 | 422 |
| 106415 | 0.6104 | 315 |
| 106411 | 0.1158 | 50 |
| 106419 | 0.0189 | 10 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.71 | gold quality |
| oocyte | CL:0000023 | 98.02 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.28 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 97.24 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.63 | gold quality |
| jejunum | UBERON:0002115 | 96.61 | gold quality |
| visceral pleura | UBERON:0002401 | 95.48 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.05 | gold quality |
| pylorus | UBERON:0001166 | 94.76 | gold quality |
| renal medulla | UBERON:0000362 | 94.73 | gold quality |
| nipple | UBERON:0002030 | 94.49 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.21 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.96 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.73 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.61 | gold quality |
| parietal pleura | UBERON:0002400 | 93.51 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.33 | gold quality |
| bronchus | UBERON:0002185 | 93.32 | gold quality |
| superior surface of tongue | UBERON:0007371 | 93.26 | gold quality |
| penis | UBERON:0000989 | 93.25 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.22 | gold quality |
| corpus callosum | UBERON:0002336 | 93.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.87 | gold quality |
| urethra | UBERON:0000057 | 92.80 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.54 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.45 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.13 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 92.06 | gold quality |
| bone marrow | UBERON:0002371 | 91.89 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 91.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.26 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| CDH1 | Unknown |
| CDKN1A | Unknown |
Upstream regulators (CollecTRI, top): KLF6, RARA
miRNA regulators (miRDB)
543 targeting LCOR, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
Literature-anchored findings (GeneRIF, showing 11)
- Data show that LCoR (ligand-dependent nuclear receptor corepressor) represents a class of corepressor that attenuates agonist-activated nuclear receptor signaling by multiple mechanisms [Ligand-dependent nuclear receptor corepressor]. (PMID:12535528)
- HDAC6 can function as a cofactor of LCoR but they can act to enhance expression of specific estrogen-regulated genes (PMID:19744931)
- role for LCoR and CtBP1 as attenuators of progesterone-regulated transcription, but LCoR and CtBP1 can act to enhance transcription of some genes (PMID:19744932)
- These results showed that the presence of miR-615-3p repressed the expression of LCoR, a derepressor of peroxisome proliferator-activated receptor gamma (PPARgamma). (PMID:21565892)
- Ligand-dependent corepressor acts as a novel androgen receptor corepressor, inhibits prostate cancer growth, and is functionally inactivated by the Src protein kinase. (PMID:21856747)
- LCoR recruitment by KLF6 regulates expression of the cyclin-dependent kinase inhibitor CDKN1A gene. (PMID:22277651)
- Taken together, these results provide new insights into the mechanism of action of LCoR and RIP140 and highlight their strong interplay for the control of gene expression and cell proliferation in breast cancer cells. (PMID:28414308)
- miR-199a promotes stem cell properties in mammary stem cells and breast cancer stem cells by directly repressing nuclear receptor corepressor LCOR, which primes interferon responses. (PMID:28530657)
- C10ORF12 protein functions as a positive regulator of PRC2 and facilitates PRC2-mediated H3K27me3 modification of chromatin. (PMID:31186533)
- A decrease of nuclear LCoR expression in line with an increase of dedifferentiation of CIN can be observed. Nuclear LCoR overexpression correlates with CIN II progression indicating a prognostic value of LCoR in cervical intraepithelial neoplasia (PMID:32157438)
- The Expression of NRIP1 and LCOR in Endometrioid Endometrial Cancer. (PMID:34410950)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lcor | ENSMUSG00000025019 |
| rattus_norvegicus | Lcor | ENSRNOG00000042679 |
Paralogs (1): LCORL (ENSG00000178177)
Protein
Protein identifiers
Ligand-dependent corepressor — Q96JN0 (reviewed: Q96JN0)
Alternative names: Mblk1-related protein 2
All UniProt accessions (17): Q96JN0, A0A6Q8PFF1, A0A6Q8PFM6, A0A6Q8PFM9, A0A6Q8PFQ9, A0A6Q8PFV7, A0A6Q8PG56, A0A6Q8PG71, A0A6Q8PG83, A0A6Q8PGD6, A0A6Q8PGL8, A0A6Q8PGP3, A0A6Q8PGQ5, A0A6Q8PGR8, A0A6Q8PGV7, A0A6Q8PH28, A0A6Q8PHQ4
UniProt curated annotations — full annotation on UniProt →
Function. May act as transcription activator that binds DNA elements with the sequence 5’-CCCTATCGATCGATCTCTACCT-3’. Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand-dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR.
Subunit / interactions. Interacts with ESR1 and ESR2 in the presence of estradiol. Interacts with CTBP1, HDAC3 and HDAC6. Component of a large corepressor complex that contains about 20 proteins, including CTBP1, CTBP2, HDAC1 and HDAC2.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96JN0-1 | 1 | yes |
| Q96JN0-2 | 2 | |
| Q96JN0-3 | 3 |
RefSeq proteins (4): NP_001164236, NP_001164237, NP_001333445, NP_115816 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007889 | HTH_Psq | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
Pfam: PF05225
UniProt features (42 total): modified residue 11, cross-link 6, compositionally biased region 4, sequence conflict 4, region of interest 4, splice variant 3, helix 3, short sequence motif 2, chain 1, domain 1, DNA-binding region 1, mutagenesis site 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6V3Y | X-RAY DIFFRACTION | 1.63 |
| 6V3X | X-RAY DIFFRACTION | 1.7 |
| 9WRJ | X-RAY DIFFRACTION | 2.2 |
| 2COB | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JN0-F1 | 55.80 | 0.13 |
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 (17): 42, 63, 249, 254, 414, 583, 605, 792, 1048, 1077, 1214, 1219, 1274, 345, 391, 543, 976
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 56–57 | loss of estradiol-dependent interaction with esr1 and esr2. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 373 (showing top):
ACTACCT_MIR196A_MIR196B, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CELLULAR_RESPONSE_TO_LIPID, AP2_Q3, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GTGCCTT_MIR506, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CEBP_Q2, MODULE_205, GATA3_01, GATA1_01, WTGAAAT_UNKNOWN, TGIF_01, ATTACAT_MIR3803P
GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cellular response to estradiol stimulus (GO:0071392)
GO Molecular Function (8): transcription corepressor binding (GO:0001222), DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), nuclear estrogen receptor binding (GO:0030331), histone deacetylase binding (GO:0042826), histone methyltransferase binding (GO:1990226), ubiquitin-specific protease binding (GO:1990381), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| negative regulation of DNA-templated transcription | 2 |
| enzyme binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| regulation of DNA-templated transcription | 1 |
| response to estradiol | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| transcription coregulator binding | 1 |
| nucleic acid binding | 1 |
| transcription coregulator activity | 1 |
| nuclear receptor binding | 1 |
| protease binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LCOR | MTF2 | Q9Y483 | 890 |
| LCOR | CTBP1 | Q13363 | 888 |
| LCOR | NRIP1 | P48552 | 832 |
| LCOR | ESR1 | P03372 | 810 |
| LCOR | EPOP | A6NHQ4 | 799 |
| LCOR | PHF19 | Q5T6S3 | 766 |
| LCOR | AEBP2 | Q6ZN18 | 726 |
| LCOR | KDM1A | O60341 | 690 |
| LCOR | NCOA2 | Q15596 | 673 |
| LCOR | JARID2 | Q92833 | 666 |
| LCOR | PHF1 | O43189 | 662 |
| LCOR | RBBP4 | P31149 | 592 |
| LCOR | EZH1 | Q92800 | 589 |
| LCOR | PPARG | P37231 | 573 |
| LCOR | EZH2 | Q15910 | 562 |
IntAct
218 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SUZ12 | EZH2 | psi-mi:“MI:2364”(proximity) | 0.960 |
| EZH2 | PHF1 | psi-mi:“MI:0914”(association) | 0.900 |
| CTBP1 | LCOR | psi-mi:“MI:0915”(physical association) | 0.890 |
| CTBP2 | LCOR | psi-mi:“MI:0915”(physical association) | 0.880 |
| LCOR | CTBP2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| CTBP1 | ZEB2 | psi-mi:“MI:0914”(association) | 0.800 |
| PHF1 | EED | psi-mi:“MI:0914”(association) | 0.790 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| CTBP1 | CBX4 | psi-mi:“MI:0914”(association) | 0.700 |
| SUZ12 | EPOP | psi-mi:“MI:0914”(association) | 0.640 |
| MTF2 | EED | psi-mi:“MI:0914”(association) | 0.640 |
| LCOR | EHMT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | LCOR | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | LCOR | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTBP2 | LCOR | psi-mi:“MI:0915”(physical association) | 0.560 |
| EED | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC3 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (283): LCOR (Two-hybrid), LCOR (Two-hybrid), LCOR (Two-hybrid), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS), LCOR (Affinity Capture-MS)
ESM2 similar proteins: A0JMA6, A4QNP7, A8TSS9, C0LZJ1, D4A218, F6W2R2, J7FCF0, O42115, O57682, O57685, P32114, P47240, P81068, P83758, Q00288, Q02962, Q19291, Q2I327, Q2MJB4, Q2TAQ8, Q4AE28, Q4V5A3, Q504H8, Q5UU75, Q5VZB9, Q66IK1, Q6DCQ1, Q6F2E3, Q6YHU8, Q6ZPI3, Q71MM5, Q76L87, Q7TST9, Q801F8, Q80WT2, Q86V15, Q8IVH2, Q8JIR6, Q8JJ64, Q90WM5
Diamond homologs: G5EGQ5, Q3U285, Q5ZJK5, Q6ZPI3, Q8N3X6, Q95YM8, Q96JN0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 190 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 |
|---|---|---|---|
| Transcriptional Regulation by E2F6 | 7 | 14.0× | 6e-05 |
| PRC2 methylates histones and DNA | 12 | 12.5× | 1e-07 |
| XBP1(S) activates chaperone genes | 8 | 11.8× | 4e-05 |
| Regulation of PTEN gene transcription | 9 | 11.0× | 3e-05 |
| PKMTs methylate histone lysines | 9 | 9.9× | 4e-05 |
| Defective pyroptosis | 9 | 9.6× | 4e-05 |
| Negative Regulation of CDH1 Gene Transcription | 11 | 9.1× | 1e-05 |
| Oxidative Stress Induced Senescence | 10 | 6.2× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2525 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:96833480:G:GG | donor_gain | 1.0000 |
| 10:96852738:G:GT | donor_gain | 1.0000 |
| 10:96852780:GTCA:G | donor_gain | 1.0000 |
| 10:96858291:GA:G | acceptor_gain | 1.0000 |
| 10:96858413:GATT:G | donor_gain | 1.0000 |
| 10:96858417:G:GG | donor_gain | 1.0000 |
| 10:96907666:A:AG | acceptor_gain | 1.0000 |
| 10:96907667:G:GG | acceptor_gain | 1.0000 |
| 10:96907667:GACT:G | acceptor_gain | 1.0000 |
| 10:96944241:AAAAG:A | donor_loss | 1.0000 |
| 10:96944242:AAAG:A | donor_loss | 1.0000 |
| 10:96944243:AAG:A | donor_loss | 1.0000 |
| 10:96944245:GGT:G | donor_loss | 1.0000 |
| 10:96944246:G:T | donor_loss | 1.0000 |
| 10:96944247:T:G | donor_loss | 1.0000 |
| 10:96949005:CAGA:C | acceptor_loss | 1.0000 |
| 10:96949006:A:AC | acceptor_loss | 1.0000 |
| 10:96949006:A:AG | acceptor_gain | 1.0000 |
| 10:96949007:G:GA | acceptor_gain | 1.0000 |
| 10:96949007:GA:G | acceptor_gain | 1.0000 |
| 10:96949007:GAC:G | acceptor_gain | 1.0000 |
| 10:96949007:GACA:G | acceptor_gain | 1.0000 |
| 10:96952101:AGAC:A | acceptor_gain | 1.0000 |
| 10:96952102:GACG:G | acceptor_gain | 1.0000 |
| 10:96832394:GT:G | donor_gain | 0.9900 |
| 10:96833446:GGCT:G | donor_gain | 0.9900 |
| 10:96852703:TAG:T | donor_gain | 0.9900 |
| 10:96852704:AGA:A | donor_gain | 0.9900 |
| 10:96852729:A:AG | donor_gain | 0.9900 |
| 10:96852759:A:T | donor_gain | 0.9900 |
AlphaMissense
10298 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:96949080:T:C | F8S | 0.999 |
| 10:96949257:T:C | L67P | 0.999 |
| 10:96952112:T:A | L83H | 0.999 |
| 10:96952112:T:C | L83P | 0.999 |
| 10:96952118:T:A | L85Q | 0.999 |
| 10:96952118:T:C | L85P | 0.999 |
| 10:96949257:T:A | L67H | 0.998 |
| 10:96949083:C:A | A9D | 0.997 |
| 10:96949091:T:G | Y12D | 0.997 |
| 10:96949251:T:C | L65P | 0.997 |
| 10:96949068:T:C | M4T | 0.996 |
| 10:96949071:T:A | I5N | 0.996 |
| 10:96949071:T:C | I5T | 0.996 |
| 10:96949071:T:G | I5S | 0.996 |
| 10:96952115:A:G | D84G | 0.996 |
| 10:96952120:T:C | S86P | 0.996 |
| 10:96952118:T:G | L85R | 0.995 |
| 10:96949069:G:A | M4I | 0.994 |
| 10:96949069:G:C | M4I | 0.994 |
| 10:96949069:G:T | M4I | 0.994 |
| 10:96949091:T:C | Y12H | 0.994 |
| 10:96949251:T:A | L65Q | 0.994 |
| 10:96949082:G:C | A9P | 0.993 |
| 10:96949092:A:C | Y12S | 0.993 |
| 10:96949257:T:G | L67R | 0.993 |
| 10:96952112:T:G | L83R | 0.993 |
| 10:96952115:A:C | D84A | 0.993 |
| 10:96949260:C:T | T68I | 0.992 |
| 10:96952116:T:A | D84E | 0.992 |
| 10:96952116:T:G | D84E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000010299 (10:96872789 C>T), RS1000063992 (10:96907233 TGTG>T), RS1000072896 (10:96956028 C>G,T), RS1000082100 (10:96872441 C>A), RS1000103876 (10:96830510 T>G), RS1000118769 (10:96834246 C>T), RS1000124378 (10:96851114 G>A), RS1000125630 (10:96926357 C>T), RS1000141694 (10:96956068 A>C,G), RS1000162835 (10:96975559 C>A,G), RS1000181393 (10:96847210 C>T), RS1000198056 (10:96987230 G>A), RS1000204133 (10:96979192 G>A), RS1000256587 (10:96918878 C>T), RS1000280577 (10:96861671 G>C)
Disease associations
OMIM: gene MIM:607698 | 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
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008151_104 | Waist circumference | 2.000000e-06 |
| GCST008160_106 | Waist circumference | 2.000000e-06 |
| GCST008551_7 | Simvastatin-induced myopathy | 6.000000e-06 |
| GCST010605_8 | Parent of origin effect on receptive language ability (paternal) | 9.000000e-06 |
| GCST012434_2 | Peak height velocity | 6.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005686 | receptive language perception |
| EFO:0005939 | parental genotype effect measurement |
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
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects binding, increases reaction, increases expression | 5 |
| Valproic Acid | affects expression, decreases expression | 4 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects binding, affects folding, decreases reaction | 1 |
| trichostatin A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| 1-nitropyrene | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | 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 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| bisphenol AF | affects binding, affects folding, decreases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 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): myopathy