UMODL1
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Summary
UMODL1 (uromodulin like 1, HGNC:12560) is a protein-coding gene on chromosome 21q22.3, encoding Uromodulin-like 1 (Q5DID0).
Predicted to enable calcium ion binding activity and peptidase inhibitor activity. Predicted to act upstream of or within several processes, including cellular response to gonadotropin-releasing hormone; regulation of granulosa cell apoptotic process; and regulation of ovarian follicle development. Predicted to be located in cytoplasm; external side of plasma membrane; and extracellular region. Predicted to be active in cell surface and extracellular space.
Source: NCBI Gene 89766 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 341 total
- MANE Select transcript:
NM_001004416
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12560 |
| Approved symbol | UMODL1 |
| Name | uromodulin like 1 |
| Location | 21q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000177398 |
| Ensembl biotype | protein_coding |
| OMIM | 613859 |
| Entrez | 89766 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 4 protein_coding
ENST00000400421, ENST00000400423, ENST00000400424, ENST00000400427, ENST00000408910, ENST00000408989, ENST00000466434, ENST00000468982, ENST00000475047, ENST00000484174, ENST00000484712, ENST00000485357, ENST00000491559, ENST00000497243
RefSeq mRNA: 4 — MANE Select: NM_001004416
NM_001004416, NM_001199527, NM_001199528, NM_173568
CCDS: CCDS42935, CCDS42936, CCDS56214, CCDS56215
Canonical transcript exons
ENST00000408910 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001577541 | 42115873 | 42115985 |
| ENSE00001578165 | 42110880 | 42111121 |
| ENSE00001581041 | 42109562 | 42109699 |
| ENSE00001581966 | 42119111 | 42119324 |
| ENSE00001583142 | 42111506 | 42111710 |
| ENSE00001584873 | 42103868 | 42104087 |
| ENSE00001586354 | 42085291 | 42085412 |
| ENSE00002470797 | 42071317 | 42071392 |
| ENSE00002518687 | 42084084 | 42084245 |
| ENSE00003465097 | 42113573 | 42113830 |
| ENSE00003474859 | 42127672 | 42127831 |
| ENSE00003498478 | 42102166 | 42102278 |
| ENSE00003522321 | 42137439 | 42137641 |
| ENSE00003525841 | 42098926 | 42099180 |
| ENSE00003528559 | 42122831 | 42123150 |
| ENSE00003585837 | 42088294 | 42088480 |
| ENSE00003587798 | 42121087 | 42121224 |
| ENSE00003600545 | 42129713 | 42129797 |
| ENSE00003635733 | 42126345 | 42126490 |
| ENSE00003647204 | 42076005 | 42076247 |
| ENSE00003668611 | 42090298 | 42090438 |
| ENSE00003668796 | 42127006 | 42127242 |
| ENSE00003916518 | 42142096 | 42142996 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 80.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6360 / max 35.3792, expressed in 125 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189273 | 0.3127 | 89 |
| 189272 | 0.2843 | 93 |
| 189277 | 0.0272 | 11 |
| 189275 | 0.0063 | 1 |
| 189274 | 0.0028 | 1 |
| 189276 | 0.0027 | 3 |
Top tissues by expression
235 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 80.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.09 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.72 | silver quality |
| secondary oocyte | CL:0000655 | 74.20 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 64.12 | gold quality |
| left testis | UBERON:0004533 | 61.69 | gold quality |
| testis | UBERON:0000473 | 59.78 | gold quality |
| right testis | UBERON:0004534 | 58.61 | gold quality |
| right lung | UBERON:0002167 | 58.45 | gold quality |
| oviduct epithelium | UBERON:0004804 | 58.03 | gold quality |
| fallopian tube | UBERON:0003889 | 56.44 | gold quality |
| oocyte | CL:0000023 | 55.66 | gold quality |
| nucleus accumbens | UBERON:0001882 | 53.66 | gold quality |
| prefrontal cortex | UBERON:0000451 | 52.78 | gold quality |
| caudate nucleus | UBERON:0001873 | 52.57 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 51.95 | gold quality |
| right frontal lobe | UBERON:0002810 | 51.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 51.81 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 51.36 | gold quality |
| primary visual cortex | UBERON:0002436 | 51.33 | gold quality |
| putamen | UBERON:0001874 | 50.74 | gold quality |
| frontal cortex | UBERON:0001870 | 50.03 | gold quality |
| bone marrow cell | CL:0002092 | 49.79 | gold quality |
| amygdala | UBERON:0001876 | 49.77 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 49.73 | gold quality |
| sperm | CL:0000019 | 49.44 | silver quality |
| neocortex | UBERON:0001950 | 49.31 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 49.27 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 48.75 | gold quality |
| occipital lobe | UBERON:0002021 | 48.44 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.36 |
| E-GEOD-100618 | no | 560.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting UMODL1, 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-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-4519 | 99.48 | 66.10 | 859 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-4506 | 99.34 | 67.47 | 526 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-4289 | 98.26 | 66.90 | 810 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-5585-5P | 97.95 | 68.80 | 1024 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-6781-3P | 97.44 | 66.85 | 970 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
| HSA-MIR-2682-3P | 97.10 | 66.16 | 840 |
| HSA-MIR-410-5P | 96.55 | 66.28 | 459 |
| HSA-MIR-323B-5P | 96.12 | 66.39 | 472 |
| HSA-MIR-494-5P | 95.31 | 66.29 | 463 |
Literature-anchored findings (GeneRIF, showing 3)
- Data report the isolation of a novel gene, designated UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on human chromosome 21q22.3. (PMID:15194491)
- result suggests that rs283971 is located in the frequent recombinant region on the UMODL1, and that this region might play a critical role in disease susceptibility to high myopia. (PMID:18535602)
- It was shown that common UMODL1 polymorphisms are unlikely to be important in the genetic susceptibility to high myopia in Han Chinese. (PMID:22857148)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | umodl1 | ENSDARG00000068923 |
| mus_musculus | Umodl1 | ENSMUSG00000054134 |
| rattus_norvegicus | Umodl1 | ENSRNOG00000001157 |
Paralogs (5): TECTB (ENSG00000119913), OIT3 (ENSG00000138315), UMOD (ENSG00000169344), GP2 (ENSG00000169347), ZPLD1 (ENSG00000170044)
Protein
Protein identifiers
Uromodulin-like 1 — Q5DID0 (reviewed: Q5DID0)
Alternative names: Olfactorin
All UniProt accessions (7): Q5DID0, H0Y3S4, H0Y856, H0Y880, H0Y887, H0Y898, H0Y8E5
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cell membrane Cytoplasm Cytoplasm.
Tissue specificity. Isoform 4 is expressed at low level in kidney, testis and fetal thymus. Isoform 3 is expressed at low level in prostate, testis and fetal thymus.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5DID0-1 | 1 | yes |
| Q5DID0-2 | 2 | |
| Q5DID0-3 | 3, UMOLD1S | |
| Q5DID0-4 | 4, UMOLD1L |
RefSeq proteins (4): NP_001004416, NP_001186456, NP_001186457, NP_775839 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000082 | SEA_dom | Domain |
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000742 | EGF | Domain |
| IPR001507 | ZP_dom | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR008197 | WAP_dom | Domain |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR011489 | EMI_domain | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036645 | Elafin-like_sf | Homologous_superfamily |
| IPR042235 | ZP-C_dom | Homologous_superfamily |
| IPR048290 | ZP_chr | Domain |
| IPR049883 | NOTCH1_EGF-like | Domain |
| IPR055355 | ZP-C | Domain |
| IPR055356 | ZP-N | Domain |
Pfam: PF00095, PF00100, PF01390, PF07645, PF23344
UniProt features (54 total): sequence variant 16, domain 10, glycosylation site 10, disulfide bond 9, region of interest 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5DID0-F1 | 69.69 | 0.12 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (9): 37–94, 61–70, 93–104, 511–525, 519–534, 536–551, 901–914, 908–923, 1157–1215
Glycosylation sites (10): 89, 109, 172, 322, 335, 417, 585, 713, 984, 1050
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 74 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOCC_CELL_SURFACE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_FEMALE_SEX_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_HORMONE, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP
GO Biological Process (8): single fertilization (GO:0007338), regulation of gene expression (GO:0010468), adipose tissue development (GO:0060612), cellular response to gonadotropin-releasing hormone (GO:0097211), regulation of granulosa cell apoptotic process (GO:1904708), regulation of ovarian follicle development (GO:2000354), regulation of apoptotic process (GO:0042981), regulation of developmental process (GO:0050793)
GO Molecular Function (3): calcium ion binding (GO:0005509), peptidase inhibitor activity (GO:0030414), protein binding (GO:0005515)
GO Cellular Component (8): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020), cell periphery (GO:0071944)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| fertilization | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| cellular response to peptide hormone stimulus | 1 |
| response to gonadotropin-releasing hormone | 1 |
| regulation of epithelial cell apoptotic process | 1 |
| granulosa cell apoptotic process | 1 |
| ovarian follicle development | 1 |
| regulation of developmental process | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| developmental process | 1 |
| regulation of biological process | 1 |
| metal ion binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
762 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UMODL1 | LIPI | Q6XZB0 | 542 |
| UMODL1 | MSLNL | Q96KJ4 | 507 |
| UMODL1 | UBASH3A | P57075 | 506 |
| UMODL1 | AXDND1 | Q5T1B0 | 484 |
| UMODL1 | HSF2BP | O75031 | 480 |
| UMODL1 | FAM13C | Q8NE31 | 472 |
| UMODL1 | KRTAP10-10 | P60014 | 471 |
| UMODL1 | PRMT2 | P55345 | 446 |
| UMODL1 | TFF3 | Q07654 | 438 |
| UMODL1 | UNCX | A6NJT0 | 427 |
| UMODL1 | TMPRSS3 | P57727 | 418 |
| UMODL1 | SDAD1 | Q9NVU7 | 414 |
| UMODL1 | LHFPL7 | Q6ICI0 | 402 |
| UMODL1 | RRP1B | Q14684 | 396 |
| UMODL1 | OR1N2 | Q8NGR9 | 396 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UMODL1 | C2CD2L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): DNAJB5 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), APAF1 (Affinity Capture-MS), MAP3K7 (Affinity Capture-MS), C2CD2L (Affinity Capture-MS), TYW1 (Affinity Capture-MS), C15orf39 (Affinity Capture-MS), PKMYT1 (Affinity Capture-MS), SNX3 (Affinity Capture-MS), ANKLE2 (Affinity Capture-MS), THAP11 (Affinity Capture-MS), FNDC3A (Affinity Capture-MS), SND1 (Cross-Linking-MS (XL-MS)), UMODL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LHF2, D3YX43, D3YZF7, O08852, O14931, O15533, O43157, O70394, O70540, O75074, O88204, P01880, P0C788, P18627, P59383, P61484, P70289, Q15109, Q28173, Q5BK54, Q5DID0, Q5RKR3, Q5TJE4, Q61790, Q61826, Q62151, Q63495, Q64612, Q6PZD2, Q7TQH7, Q7Z4F1, Q80W87, Q86T13, Q86VR7, Q8C310, Q8CB67, Q8CJH3, Q8IZF5, Q8MJ02, Q8N441
Diamond homologs: O08524, P54097, Q12836, Q5DID0, Q5DID3, Q96PL2, Q9BH11, Q9D733, O08523, O75443, P07911, P19218, P25291, P27590, P48733, P55259, Q5R5C1, Q6DFV8, Q862Z3, Q8N2E2, Q8R4V5, Q91X17, Q9YH85, Q8CH34, Q07929, P35555, P48834, P98133, Q61554, Q9TV36, P20239, P47984, Q05996
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
341 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 276 |
| Likely benign | 42 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4169 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:42085286:T:TA | acceptor_gain | 1.0000 |
| 21:42085289:A:AG | acceptor_gain | 1.0000 |
| 21:42085290:G:GA | acceptor_gain | 1.0000 |
| 21:42085290:GC:G | acceptor_gain | 1.0000 |
| 21:42085290:GCT:G | acceptor_gain | 1.0000 |
| 21:42085290:GCTC:G | acceptor_gain | 1.0000 |
| 21:42085290:GCTCC:G | acceptor_gain | 1.0000 |
| 21:42088289:CACA:C | acceptor_loss | 1.0000 |
| 21:42088291:CAGGT:C | acceptor_loss | 1.0000 |
| 21:42088292:AGGTC:A | acceptor_loss | 1.0000 |
| 21:42088293:G:GC | acceptor_loss | 1.0000 |
| 21:42099181:G:GG | donor_gain | 1.0000 |
| 21:42102161:CTCA:C | acceptor_loss | 1.0000 |
| 21:42102165:GAT:G | acceptor_gain | 1.0000 |
| 21:42109556:T:TA | acceptor_gain | 1.0000 |
| 21:42109663:G:T | donor_gain | 1.0000 |
| 21:42109698:GG:G | donor_gain | 1.0000 |
| 21:42109698:GGGT:G | donor_loss | 1.0000 |
| 21:42109699:GG:G | donor_gain | 1.0000 |
| 21:42109700:GTA:G | donor_loss | 1.0000 |
| 21:42109701:T:G | donor_loss | 1.0000 |
| 21:42119106:CGCAG:C | acceptor_loss | 1.0000 |
| 21:42119107:GCA:G | acceptor_loss | 1.0000 |
| 21:42119108:CAGG:C | acceptor_loss | 1.0000 |
| 21:42119110:G:T | acceptor_loss | 1.0000 |
| 21:42119110:GGT:G | acceptor_gain | 1.0000 |
| 21:42119110:GGTGC:G | acceptor_gain | 1.0000 |
| 21:42119246:G:GT | donor_gain | 1.0000 |
| 21:42119294:G:GT | donor_gain | 1.0000 |
| 21:42119323:GG:G | donor_gain | 1.0000 |
AlphaMissense
8593 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:42127181:T:C | C1157R | 0.998 |
| 21:42127181:T:A | C1157S | 0.996 |
| 21:42127182:G:C | C1157S | 0.996 |
| 21:42127183:C:G | C1157W | 0.996 |
| 21:42127784:T:C | C1215R | 0.995 |
| 21:42127786:C:G | C1215W | 0.995 |
| 21:42123123:G:C | W1040C | 0.994 |
| 21:42123123:G:T | W1040C | 0.994 |
| 21:42127182:G:A | C1157Y | 0.994 |
| 21:42127748:T:C | F1203L | 0.994 |
| 21:42127750:T:A | F1203L | 0.994 |
| 21:42127750:T:G | F1203L | 0.994 |
| 21:42127785:G:A | C1215Y | 0.994 |
| 21:42123130:T:A | C1043S | 0.993 |
| 21:42123131:G:C | C1043S | 0.993 |
| 21:42127779:T:C | L1213P | 0.993 |
| 21:42127784:T:A | C1215S | 0.993 |
| 21:42127785:G:C | C1215S | 0.993 |
| 21:42126438:T:A | C1081S | 0.992 |
| 21:42126439:G:C | C1081S | 0.992 |
| 21:42126445:T:G | F1083C | 0.992 |
| 21:42127186:G:C | W1158C | 0.992 |
| 21:42127186:G:T | W1158C | 0.992 |
| 21:42127187:G:C | A1159P | 0.992 |
| 21:42127673:T:A | C1178S | 0.992 |
| 21:42127674:G:C | C1178S | 0.992 |
| 21:42127823:T:C | C1228R | 0.992 |
| 21:42123020:T:G | F1006C | 0.991 |
| 21:42123130:T:C | C1043R | 0.991 |
| 21:42127230:T:C | F1173S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000037125 (21:42082009 G>A), RS1000093229 (21:42067225 C>A), RS1000093824 (21:42132526 T>C), RS1000100580 (21:42115531 T>C), RS1000214438 (21:42112904 T>C), RS1000241312 (21:42076600 G>A), RS1000256596 (21:42090828 G>A), RS1000298896 (21:42080394 C>T), RS1000309371 (21:42112690 A>C), RS1000337546 (21:42137971 A>G), RS1000370291 (21:42138110 C>G), RS1000387668 (21:42085178 G>A), RS1000397050 (21:42106525 G>A), RS1000465483 (21:42066940 A>C,G,T), RS1000472901 (21:42115273 A>G)
Disease associations
OMIM: gene MIM:613859 | 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
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_602 | Obesity-related traits | 4.000000e-07 |
| GCST003918_1 | Idiopathic osteonecrosis of the femoral head | 2.000000e-07 |
| GCST007267_181 | Systolic blood pressure | 2.000000e-09 |
| GCST008362_129 | Birth weight | 4.000000e-11 |
| GCST90002388_590 | Lymphocyte count | 5.000000e-14 |
| GCST90002389_431 | Lymphocyte percentage of white cells | 3.000000e-14 |
| GCST90026413_16 | Severe insulin-deficient type 2 diabetes | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001930 | idiopathic osteonecrosis of the femoral head |
| EFO:0006335 | systolic blood pressure |
| EFO:0004344 | birth weight |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
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
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation | 2 |
| propionaldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dactinomycin | increases expression, affects cotreatment | 1 |
| Estradiol | increases expression | 1 |
| Lipopolysaccharides | decreases expression, affects cotreatment | 1 |
| Malathion | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation, increases methylation | 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