DGAT2L6
gene geneOn this page
Also known as DC3FLJ25989
Summary
DGAT2L6 (diacylglycerol O-acyltransferase 2 like 6, HGNC:23250) is a protein-coding gene on chromosome Xq13.1, encoding Diacylglycerol O-acyltransferase 2-like protein 6 (Q6ZPD8). Diglyceride acyltransferase that uses fatty acyl-CoA as substrate.
This gene is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown.
Source: NCBI Gene 347516 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 76 total
- Druggable target: yes
- MANE Select transcript:
NM_198512
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23250 |
| Approved symbol | DGAT2L6 |
| Name | diacylglycerol O-acyltransferase 2 like 6 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DC3, FLJ25989 |
| Ensembl gene | ENSG00000184210 |
| Ensembl biotype | protein_coding |
| OMIM | 300926 |
| Entrez | 347516 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000333026
RefSeq mRNA: 1 — MANE Select: NM_198512
NM_198512
CCDS: CCDS14397
Canonical transcript exons
ENST00000333026 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001302430 | 70200255 | 70200459 |
| ENSE00001307744 | 70199812 | 70199882 |
| ENSE00001322588 | 70201890 | 70202064 |
| ENSE00001329802 | 70199271 | 70199381 |
| ENSE00001364288 | 70177483 | 70177667 |
| ENSE00001371388 | 70204305 | 70204516 |
| ENSE00001375946 | 70204952 | 70205704 |
Expression profiles
Bgee: expression breadth tissue_specific, 9 present calls, max score 54.99.
Top tissues by expression
122 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 54.99 | silver quality |
| skin of abdomen | UBERON:0001416 | 53.45 | gold quality |
| zone of skin | UBERON:0000014 | 49.91 | gold quality |
| skin of leg | UBERON:0001511 | 47.11 | gold quality |
| bone marrow cell | CL:0002092 | 44.43 | gold quality |
| colonic epithelium | UBERON:0000397 | 41.46 | gold quality |
| bone marrow | UBERON:0002371 | 40.89 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 38.18 | gold quality |
| right lung | UBERON:0002167 | 37.66 | silver quality |
| right uterine tube | UBERON:0001302 | 37.02 | silver quality |
| tonsil | UBERON:0002372 | 36.86 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| granulocyte | CL:0000094 | 35.48 | gold quality |
| muscle tissue | UBERON:0002385 | 34.58 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 34.47 | gold quality |
| mucosa of stomach | UBERON:0001199 | 34.08 | gold quality |
| muscle of leg | UBERON:0001383 | 33.82 | gold quality |
| corpus callosum | UBERON:0002336 | 33.45 | gold quality |
| gastrocnemius | UBERON:0001388 | 32.78 | gold quality |
| duodenum | UBERON:0002114 | 32.73 | gold quality |
| left uterine tube | UBERON:0001303 | 32.46 | gold quality |
| liver | UBERON:0002107 | 32.40 | gold quality |
| uterine cervix | UBERON:0000002 | 32.32 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| placenta | UBERON:0001987 | 31.45 | gold quality |
| rectum | UBERON:0001052 | 31.33 | gold quality |
| endometrium | UBERON:0001295 | 31.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 31.06 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 30.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting DGAT2L6, 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-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-6870-3P | 98.08 | 65.10 | 692 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-18B-3P | 98.05 | 65.55 | 595 |
| HSA-MIR-744-3P | 97.99 | 67.76 | 637 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-192-3P | 97.52 | 67.66 | 1001 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-6822-3P | 96.60 | 66.06 | 680 |
| HSA-MIR-4680-5P | 96.43 | 67.15 | 893 |
| HSA-MIR-9900 | 96.06 | 65.48 | 557 |
| HSA-MIR-3157-3P | 95.86 | 67.08 | 454 |
| HSA-MIR-6816-3P | 95.05 | 66.08 | 459 |
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dgat2l6 | ENSMUSG00000067597 |
| rattus_norvegicus | Dgat2l6 | ENSRNOG00000038046 |
| drosophila_melanogaster | CG1941 | FBGN0033214 |
| drosophila_melanogaster | Dgat2 | FBGN0033215 |
| drosophila_melanogaster | CG1946 | FBGN0033216 |
| caenorhabditis_elegans | WBGENE00010296 | |
| caenorhabditis_elegans | WBGENE00019464 | |
| caenorhabditis_elegans | WBGENE00020910 | |
| caenorhabditis_elegans | WBGENE00021818 |
Paralogs (6): DGAT2 (ENSG00000062282), MOGAT3 (ENSG00000106384), MOGAT1 (ENSG00000124003), AWAT2 (ENSG00000147160), MOGAT2 (ENSG00000166391), AWAT1 (ENSG00000204195)
Protein
Protein identifiers
Diacylglycerol O-acyltransferase 2-like protein 6 — Q6ZPD8 (reviewed: Q6ZPD8)
Alternative names: Diacylglycerol O-acyltransferase candidate 3
All UniProt accessions (1): Q6ZPD8
UniProt curated annotations — full annotation on UniProt →
Function. Diglyceride acyltransferase that uses fatty acyl-CoA as substrate. Particularly active with oleate as a substrate. Has no wax synthase activity to produce wax esters. Able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG).
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in all tissues tested except pancreas.
Similarity. Belongs to the diacylglycerol acyltransferase family.
RefSeq proteins (1): NP_940914* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007130 | DAGAT | Family |
Pfam: PF03982
Enzyme classification (BRENDA):
- EC 2.3.1.20 — diacylglycerol O-acyltransferase (BRENDA: 78 organisms, 288 substrates, 261 inhibitors, 50 Km, 1 kcat entries)
- EC 2.3.1.75 — long-chain-alcohol O-fatty-acyltransferase (BRENDA: 24 organisms, 473 substrates, 10 inhibitors, 48 Km, 37 kcat entries)
Substrate kinetics (BRENDA)
29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| OLEOYL-COA | 0.0005–0.667 | 20 |
| PALMITOYL-COA | 0.0007–0.39 | 6 |
| PALMITOYL-COA | 0.0031–0.029 | 6 |
| ARACHIDONOYL-COA | 0.2263–0.2972 | 4 |
| DECANOYL-COA | 0.001–0.0176 | 4 |
| EICOSAPENTAENOYL-COA | 0.1016–0.1312 | 4 |
| LAUROYL-COA | 0.0001–0.0259 | 4 |
| MYRISTOYL-COA | 0.0039–0.0185 | 4 |
| OCTADECATRIENOYL-COA | 0.2809–0.2847 | 4 |
| OCTANOYL-COA | 0.0123–0.0299 | 4 |
| STEAROYL-COA | 0.0192–0.0759 | 4 |
| DIOLEIN | 0.028–0.714 | 2 |
| SN-1,2-DIOLEIN | 0.006–0.113 | 2 |
| 1,2-DIOLEIN | 0.014 | 1 |
| 1,2-DIOLEOYL-SN-GLYCEROL | 0.5971 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- 1-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA (RHEA:37915)
- 1,2-di-(9Z-octadecenoyl)-sn-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38219)
- 1-O-(9Z-octadecenyl)-glycerol + (9Z)-octadecenoyl-CoA = 1-O-(9Z-octadecyl)-3-(9Z-octadecenoyl)-glycerol + CoA (RHEA:55340)
UniProt features (3 total): transmembrane region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZPD8-F1 | 92.02 | 0.77 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1482883 | Acyl chain remodeling of DAG and TAG |
MSigDB gene sets: 29 (showing top):
GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEUTRAL_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_ACYLGLYCEROL_O_ACYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_O_ACYLTRANSFERASE_ACTIVITY, chrXq13, REACTOME_ACYL_CHAIN_REMODELING_OF_DAG_AND_TAG, REACTOME_METABOLISM_OF_LIPIDS, GOBP_MONOACYLGLYCEROL_METABOLIC_PROCESS
GO Biological Process (3): lipid metabolic process (GO:0006629), monoacylglycerol biosynthetic process (GO:0006640), acylglycerol acyl-chain remodeling (GO:0036155)
GO Molecular Function (5): diacylglycerol O-acyltransferase activity (GO:0004144), obsolete O-acyltransferase activity (GO:0008374), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| monoacylglycerol metabolic process | 1 |
| acylglycerol biosynthetic process | 1 |
| acylglycerol metabolic process | 1 |
| acylglycerol O-acyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
540 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DGAT2L6 | KRTAP17-1 | Q9BYP8 | 421 |
| DGAT2L6 | TMEM68 | Q96MH6 | 389 |
| DGAT2L6 | FAR2 | Q96K12 | 377 |
| DGAT2L6 | SLC22A14 | Q9Y267 | 369 |
| DGAT2L6 | PRSS53 | Q2L4Q9 | 357 |
| DGAT2L6 | AASDH | Q4L235 | 349 |
| DGAT2L6 | LPCAT4 | Q643R3 | 345 |
| DGAT2L6 | SORCS3 | Q9UPU3 | 327 |
| DGAT2L6 | SLC15A5 | A6NIM6 | 325 |
| DGAT2L6 | DNASE1L2 | Q92874 | 322 |
| DGAT2L6 | GDPD2 | Q9HCC8 | 321 |
| DGAT2L6 | MPLKIP | Q8TAP9 | 319 |
| DGAT2L6 | ELOVL3 | Q9HB03 | 319 |
| DGAT2L6 | FABP9 | Q0Z7S8 | 316 |
| DGAT2L6 | OTUD6A | Q7L8S5 | 313 |
IntAct
137 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DGAT2L6 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | TMEM143 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUFM | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FARS2 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAD2 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXL19 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPP1 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | PITPNC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | NDRG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | MYG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNX4 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | SMG9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | RNF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | WIPI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTPA | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | NAPB | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAR | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | MCEMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | TMEM255B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ECPAS | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | PBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMED8 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | MTERF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAND1 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | ABHD5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | ACSF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGAT2L6 | THAP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP2 | DGAT2L6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (46): DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid), DGAT2L6 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVX0, A2ADU8, A2ADU9, A2Y075, A6QP72, O82232, P34655, P55017, P55018, P56508, P59158, P68178, P68179, Q0DKW8, Q0VBW2, Q22701, Q3ZCB2, Q53GD3, Q54RZ2, Q5REK4, Q5RJI2, Q5TYP8, Q66I68, Q6DK93, Q6DK99, Q6E1M8, Q6E213, Q6GMG8, Q6GZQ0, Q6NUC1, Q6P828, Q6PCW6, Q6ZPD8, Q8H5T6, Q8NG11, Q8QZY6, Q8S5M8, Q91VA1, Q9ARD5, Q9BYD5
Diamond homologs: A2ADU8, A2ADU9, A6QP72, K7K424, O74850, Q08650, Q28C88, Q2KHS5, Q3KPP4, Q3SYC2, Q4V9F0, Q54GC1, Q58HT5, Q5FVP8, Q5M7F4, Q5M8H5, Q6E1M8, Q6E213, Q6P342, Q6PAZ3, Q6ZPD8, Q70VZ7, Q70VZ8, Q75BY0, Q80W94, Q86VF5, Q91ZV4, Q96PD6, Q96PD7, Q96UY1, Q96UY2, Q9ASU1, Q9DCV3, A1A442, Q9ZVN2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 12 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1116 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:70204950:A:AG | acceptor_gain | 1.0000 |
| X:70204950:AGTT:A | acceptor_gain | 1.0000 |
| X:70204951:G:GG | acceptor_gain | 1.0000 |
| X:70204951:GTT:G | acceptor_gain | 1.0000 |
| X:70204951:GTTG:G | acceptor_gain | 1.0000 |
| X:70199880:AAG:A | donor_gain | 0.9900 |
| X:70201080:A:G | acceptor_gain | 0.9900 |
| X:70202026:GCAGC:G | donor_gain | 0.9900 |
| X:70202029:GC:G | donor_gain | 0.9900 |
| X:70202063:GG:G | donor_gain | 0.9900 |
| X:70202064:GG:G | donor_gain | 0.9900 |
| X:70204949:T:G | acceptor_gain | 0.9900 |
| X:70204950:AGTTG:A | acceptor_gain | 0.9900 |
| X:70204951:GTTGG:G | acceptor_gain | 0.9900 |
| X:70177664:TTAGG:T | donor_loss | 0.9800 |
| X:70177665:TAGG:T | donor_loss | 0.9800 |
| X:70177666:AGGT:A | donor_loss | 0.9800 |
| X:70177668:G:GA | donor_loss | 0.9800 |
| X:70177669:T:A | donor_loss | 0.9800 |
| X:70201074:T:TA | acceptor_gain | 0.9800 |
| X:70201083:A:AG | acceptor_gain | 0.9800 |
| X:70201084:G:GG | acceptor_gain | 0.9800 |
| X:70202034:AAG:A | donor_gain | 0.9800 |
| X:70204948:ATAG:A | acceptor_loss | 0.9800 |
| X:70204951:GT:G | acceptor_gain | 0.9800 |
| X:70204948:A:AG | acceptor_gain | 0.9700 |
| X:70177613:G:GT | donor_gain | 0.9600 |
| X:70177670:GAGT:G | donor_loss | 0.9600 |
| X:70199313:GTAA:G | acceptor_gain | 0.9600 |
| X:70200329:T:TA | acceptor_gain | 0.9600 |
AlphaMissense
2187 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:70204330:T:C | F225L | 0.968 |
| X:70204332:T:A | F225L | 0.968 |
| X:70204332:T:G | F225L | 0.968 |
| X:70202039:T:C | F208L | 0.966 |
| X:70202041:T:A | F208L | 0.966 |
| X:70202041:T:G | F208L | 0.966 |
| X:70205047:T:C | F319L | 0.960 |
| X:70205049:T:A | F319L | 0.960 |
| X:70205049:T:G | F319L | 0.960 |
| X:70204316:T:A | V220D | 0.951 |
| X:70199871:T:C | F86L | 0.931 |
| X:70199873:C:A | F86L | 0.931 |
| X:70199873:C:G | F86L | 0.931 |
| X:70200420:T:C | F145L | 0.925 |
| X:70200422:T:A | F145L | 0.925 |
| X:70200422:T:G | F145L | 0.925 |
| X:70205061:A:C | K323N | 0.922 |
| X:70205061:A:T | K323N | 0.922 |
| X:70204514:T:A | V286D | 0.921 |
| X:70200345:T:C | F120L | 0.918 |
| X:70200347:T:A | F120L | 0.918 |
| X:70200347:T:G | F120L | 0.918 |
| X:70200439:G:C | R151P | 0.913 |
| X:70202040:T:C | F208S | 0.910 |
| X:70202052:C:A | A212E | 0.910 |
| X:70204324:T:G | Y223D | 0.908 |
| X:70204313:T:A | L219H | 0.906 |
| X:70200344:C:A | N119K | 0.897 |
| X:70200344:C:G | N119K | 0.897 |
| X:70204952:T:A | V287D | 0.896 |
dbSNP variants (sampled 300 via entrez): RS1000049877 (X:70205991 T>C), RS1000498447 (X:70181726 T>C), RS1000627444 (X:70191797 A>G), RS1000948757 (X:70201214 C>T), RS1000979029 (X:70184224 G>A), RS1000997861 (X:70196645 TAA>T), RS1001101799 (X:70197961 G>C), RS1001269349 (X:70190501 G>A), RS1001323934 (X:70181063 C>G), RS1001387759 (X:70200938 A>G,T), RS1001416725 (X:70180451 CA>C,CAA), RS1001849196 (X:70200202 G>A,C,T), RS1002003682 (X:70182936 G>T), RS1002070675 (X:70193262 C>T), RS1002268454 (X:70192918 A>G)
Disease associations
OMIM: gene MIM:300926 | 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: yes
ChEMBL targets (1): CHEMBL5465322 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5368894 | Binding | Inhibition of recombinant human DC3 | Discovery of 12 (BMS-986172) as a Highly Potent MGAT2 Inhibitor that Achieved Targeted Efficacious Exposures at a Low Human Dose for the Treatment of Metabolic Disorders. — J Med Chem |
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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.