TRIM66
gene geneOn this page
Also known as KIAA0298TIF1D
Summary
TRIM66 (tripartite motif containing 66, HGNC:29005) is a protein-coding gene on chromosome 11p15.4, encoding Tripartite motif-containing protein 66 (O15016). May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity.
Predicted to enable chromatin binding activity; identical protein binding activity; and zinc ion binding activity. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Located in nucleus.
Source: NCBI Gene 9866 — RefSeq curated summary.
At a glance
- GWAS associations: 32
- Clinical variants (ClinVar): 219 total
- Druggable target: yes
- MANE Select transcript:
NM_001388022
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29005 |
| Approved symbol | TRIM66 |
| Name | tripartite motif containing 66 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0298, TIF1D |
| Ensembl gene | ENSG00000166436 |
| Ensembl biotype | protein_coding |
| OMIM | 612000 |
| Entrez | 9866 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 retained_intron, 6 protein_coding, 1 nonsense_mediated_decay
ENST00000481014, ENST00000525788, ENST00000529057, ENST00000529211, ENST00000530502, ENST00000531498, ENST00000644261, ENST00000646038, ENST00000705689, ENST00000705690, ENST00000705691, ENST00000705692, ENST00000705693
RefSeq mRNA: 4 — MANE Select: NM_001388022
NM_001388022, NM_001388023, NM_001388024, NM_014818
CCDS: CCDS91432, CCDS91433
Canonical transcript exons
ENST00000646038 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002142854 | 8621032 | 8621321 |
| ENSE00003527444 | 8620446 | 8620572 |
| ENSE00003635054 | 8620050 | 8620124 |
| ENSE00003674670 | 8619383 | 8619535 |
| ENSE00003693907 | 8618750 | 8618968 |
| ENSE00003816862 | 8674806 | 8674883 |
| ENSE00003817895 | 8672248 | 8672385 |
| ENSE00003821373 | 8679901 | 8680063 |
| ENSE00003822868 | 8612040 | 8618003 |
| ENSE00003825889 | 8651800 | 8651903 |
| ENSE00003827837 | 8679620 | 8679814 |
| ENSE00003993999 | 8622816 | 8622876 |
| ENSE00003994000 | 8645741 | 8645887 |
| ENSE00003994003 | 8621645 | 8621819 |
| ENSE00003994006 | 8624359 | 8624551 |
| ENSE00003994009 | 8648416 | 8648548 |
| ENSE00003994011 | 8671786 | 8672098 |
| ENSE00003994014 | 8624713 | 8625228 |
| ENSE00003994016 | 8646447 | 8646561 |
| ENSE00003994021 | 8647970 | 8648086 |
| ENSE00003994022 | 8643009 | 8643126 |
| ENSE00003994025 | 8638654 | 8638815 |
| ENSE00003994026 | 8640227 | 8641152 |
| ENSE00003994028 | 8682601 | 8682665 |
| ENSE00003994030 | 8649740 | 8649887 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 90.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2877 / max 78.6808, expressed in 1735 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118508 | 7.3406 | 1719 |
| 118509 | 0.6498 | 363 |
| 118507 | 0.1691 | 72 |
| 118505 | 0.0848 | 28 |
| 118504 | 0.0185 | 5 |
| 118506 | 0.0129 | 3 |
| 118503 | 0.0071 | 2 |
| 118501 | 0.0049 | 1 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 90.74 | gold quality |
| right testis | UBERON:0004534 | 90.54 | gold quality |
| left testis | UBERON:0004533 | 90.22 | gold quality |
| testis | UBERON:0000473 | 87.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.38 | gold quality |
| corpus epididymis | UBERON:0004359 | 82.78 | gold quality |
| body of pancreas | UBERON:0001150 | 82.02 | gold quality |
| right lobe of liver | UBERON:0001114 | 81.51 | gold quality |
| tendon | UBERON:0000043 | 80.98 | gold quality |
| pancreatic ductal cell | CL:0002079 | 80.23 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.89 | gold quality |
| right uterine tube | UBERON:0001302 | 79.86 | gold quality |
| pituitary gland | UBERON:0000007 | 79.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 79.31 | gold quality |
| cauda epididymis | UBERON:0004360 | 79.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 79.16 | gold quality |
| pancreas | UBERON:0001264 | 78.57 | gold quality |
| skin of leg | UBERON:0001511 | 78.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 77.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 77.64 | gold quality |
| caput epididymis | UBERON:0004358 | 77.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 77.56 | gold quality |
| adrenal cortex | UBERON:0001235 | 77.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 77.40 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.36 | gold quality |
| body of stomach | UBERON:0001161 | 77.28 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 77.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 77.16 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 76.99 | gold quality |
| adrenal gland | UBERON:0002369 | 76.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 6.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
319 targeting TRIM66, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
Literature-anchored findings (GeneRIF, showing 14)
- Data suggest a role for transcriptional intermediary factor 1 (TIF1) delta in heterochromatin-mediated gene silencing during postmeiotic phases of spermatogenesis. (PMID:15322135)
- TRIM66 may act as an oncogene through suppressing apoptosis pathway and promoting TGF-beta signaling in osteosarcoma carcinogenesis. TRIM66 may be a prognostic factor and potential therapeutic target in osteosarcoma. (PMID:26247633)
- TRIMM66 was highly expressed in NSCLC tissues compared with normal paracancerous tissues (P= 0.001). The high TRIM66 expression closely associated with lymph node metastasis and TNM stage in NSCLC patients (P< 0.05). (PMID:28946563)
- Silence TRIM66 expression suppressed non-small cell lung cancer cell proliferation, invasion, and migration (PMID:29929749)
- TRIM66 functioned as an oncogenic protein in HCC by promoting the activation of Wnt/beta-catenin signaling (PMID:30710548)
- High TRIM66 expression is associated with cell proliferation, migration and invasion in colorectal cancer through JAK2/STAT3 pathway. (PMID:31472144)
- TRIM66 recruits Sirt6 to deacetylate H3K56ac, negatively regulating the level of H3K56ac and facilitating the initiation of DNA damage repair. Importantly, Trim66-deficient blastocysts also exhibit higher levels of H3K56ac and DNA damage. (PMID:31537782)
- TRIM66 promotes malignant progression of prostate carcinoma through the JAK/STAT pathway. (PMID:31981447)
- Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans. (PMID:34573402)
- Zhoushi Qi Ling decoction represses docetaxel resistance and glycolysis of castration-resistant prostate cancer via regulation of SNHG10/miR-1271-5p/TRIM66 axis. (PMID:34613933)
- Knockdown of TRIM66 in MDA-MB-468 triple negative breast cancer cell line suppresses proliferation and promotes apoptosis through EGFR signaling. (PMID:34706523)
- TRIM66 hastens the malignant progression of non-small cell lung cancer via modulating MMP9-mediated TGF-beta/SMAD pathway. (PMID:35301175)
- TRIM66 Promotes Malignant Progression of Non-Small-Cell Lung Cancer Cells via Targeting MMP9. (PMID:35912155)
- Circ-SATB2 (hsa_circ_0008928) and miR-150-5p are regulators of TRIM66 in the regulation of NSCLC cell growth and metastasis of NSCLC cells via the ceRNA pathway. (PMID:38084627)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trim66 | ENSDARG00000054332 |
| mus_musculus | Trim66 | ENSMUSG00000031026 |
| rattus_norvegicus | Trim66 | ENSRNOG00000014373 |
Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)
Protein
Protein identifiers
Tripartite motif-containing protein 66 — O15016 (reviewed: O15016)
All UniProt accessions (7): A0A2R8YE93, A0A8Z5E822, A0A994J572, A0A994J5L5, A0A994J7V7, B5MCJ9, H0YF52
UniProt curated annotations — full annotation on UniProt →
Function. May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association.
Subunit / interactions. Can form homodimers and heterodimers. Interacts with CBX5, CBX1 and CBX3 via PxVxL motif.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15016-1 | 1 | yes |
| O15016-2 | 2 | |
| O15016-3 | 3 |
RefSeq proteins (4): NP_001374951, NP_001374952, NP_001374953, NP_055633 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000315 | Znf_B-box | Domain |
| IPR001487 | Bromodomain | Domain |
| IPR001965 | Znf_PHD | Domain |
| IPR003649 | Bbox_C | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR036427 | Bromodomain-like_sf | Homologous_superfamily |
| IPR037372 | TRIM66_Bbox1_Znf | Domain |
Pfam: PF00439, PF00628, PF00643, PF25287
UniProt features (41 total): binding site 8, helix 7, splice variant 5, region of interest 5, strand 4, compositionally biased region 3, zinc finger region 3, turn 2, chain 1, domain 1, coiled-coil region 1, short sequence motif 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6IEU | X-RAY DIFFRACTION | 1.79 |
| 8JZW | X-RAY DIFFRACTION | 1.8 |
| 6IET | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15016-F1 | 55.38 | 0.16 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 109; 112; 133; 139; 169; 172; 192; 197
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 98 (showing top):
GAZIN_EPIGENETIC_SILENCING_BY_KRAS, MORF_TNFRSF25, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_UP, PEDRIOLI_MIR31_TARGETS_DN, ATF6_TARGET_GENES, MIR651_3P, MIR548P, MIR548AW, MIR4306, MIR15A_5P, MIR195_5P, MIR15B_5P, MIR16_5P, MIR7110_3P, MIR6838_5P
GO Biological Process (1): negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (5): zinc ion binding (GO:0008270), chromatin binding (GO:0003682), protein binding (GO:0005515), identical protein binding (GO:0042802), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), chromocenter (GO:0010369)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1004 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRIM66 | CBX3 | Q13185 | 921 |
| TRIM66 | TRIM17 | Q9Y577 | 786 |
| TRIM66 | BBOX1 | O75936 | 748 |
| TRIM66 | TRIM47 | Q96LD4 | 623 |
| TRIM66 | TRAT1 | Q6PIZ9 | 622 |
| TRIM66 | TRIM25 | Q14258 | 614 |
| TRIM66 | TRIM44 | Q96DX7 | 593 |
| TRIM66 | TRIM11 | Q96F44 | 587 |
| TRIM66 | TRIM28 | Q13263 | 576 |
| TRIM66 | TRIM8 | Q9BZR9 | 575 |
| TRIM66 | TATDN1 | Q6P1N9 | 565 |
| TRIM66 | TRIM59 | Q8IWR1 | 559 |
| TRIM66 | TRIM62 | Q9BVG3 | 540 |
| TRIM66 | TRIM4 | Q9C037 | 517 |
| TRIM66 | CBX1 | P23197 | 515 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NP | KPNA4 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | TRIM66 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TRIM66 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (203): TRIM66 (Affinity Capture-MS), TRIM66 (Affinity Capture-MS), MMS19 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), TP53 (Affinity Capture-MS), CEP170 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), NUP188 (Affinity Capture-MS), MON2 (Affinity Capture-MS), RPTOR (Affinity Capture-MS), AKAP8 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), TTC37 (Affinity Capture-MS), MCM3AP (Affinity Capture-MS), FANCD2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0
Diamond homologs: A0A0R4IXF6, A0A7U2QYM2, A2AHJ4, A2AUY4, A2BIL7, B2KF05, B2RWS6, B7ZS37, D4A7T3, E9Q2Z1, F1QW93, F1R5H6, F7DRV9, O15016, O15164, O60885, O88379, P21675, P25439, P25440, P34545, P45481, P51123, P87152, Q02206, Q03330, Q08D75, Q09472, Q12830, Q15059, Q1LUC3, Q32S26, Q338B9, Q3UQU0, Q4R8Y1, Q54BA2, Q54UW4, Q55C84, Q56R14, Q58F21
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
219 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 186 |
| Likely benign | 13 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4613 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:8619381:A:AC | donor_gain | 1.0000 |
| 11:8619382:C:CC | donor_gain | 1.0000 |
| 11:8619382:CATAA:C | donor_gain | 1.0000 |
| 11:8619385:A:AC | donor_gain | 1.0000 |
| 11:8619386:A:C | donor_gain | 1.0000 |
| 11:8619395:AG:A | donor_gain | 1.0000 |
| 11:8619396:G:C | donor_gain | 1.0000 |
| 11:8619435:T:TA | donor_gain | 1.0000 |
| 11:8619537:T:C | acceptor_gain | 1.0000 |
| 11:8619551:A:C | acceptor_gain | 1.0000 |
| 11:8620043:T:TA | donor_gain | 1.0000 |
| 11:8620122:CTT:C | acceptor_gain | 1.0000 |
| 11:8620443:TA:T | donor_loss | 1.0000 |
| 11:8620444:A:AG | donor_loss | 1.0000 |
| 11:8620445:CCT:C | donor_loss | 1.0000 |
| 11:8620445:CCTT:C | donor_gain | 1.0000 |
| 11:8620465:AGG:A | donor_gain | 1.0000 |
| 11:8620568:CTCCC:C | acceptor_gain | 1.0000 |
| 11:8620570:CCC:C | acceptor_gain | 1.0000 |
| 11:8620571:CC:C | acceptor_gain | 1.0000 |
| 11:8620571:CCC:C | acceptor_gain | 1.0000 |
| 11:8620572:CC:C | acceptor_gain | 1.0000 |
| 11:8620573:C:CC | acceptor_gain | 1.0000 |
| 11:8621640:GGTAC:G | donor_loss | 1.0000 |
| 11:8621641:GTAC:G | donor_loss | 1.0000 |
| 11:8621642:TAC:T | donor_loss | 1.0000 |
| 11:8621643:A:T | donor_loss | 1.0000 |
| 11:8622873:CACT:C | acceptor_gain | 1.0000 |
| 11:8622875:CT:C | acceptor_gain | 1.0000 |
| 11:8622877:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
9184 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:8619389:G:C | F1122L | 1.000 |
| 11:8619389:G:T | F1122L | 1.000 |
| 11:8619391:A:G | F1122L | 1.000 |
| 11:8640288:A:C | I551S | 1.000 |
| 11:8640288:A:G | I551T | 1.000 |
| 11:8640300:A:T | I547N | 1.000 |
| 11:8646496:A:G | L158P | 1.000 |
| 11:8646509:C:G | A154P | 1.000 |
| 11:8618934:A:G | L1136P | 0.999 |
| 11:8619390:A:G | F1122S | 0.999 |
| 11:8621087:A:G | C988R | 0.999 |
| 11:8621121:G:C | C976W | 0.999 |
| 11:8621123:A:G | C976R | 0.999 |
| 11:8621130:A:C | C973W | 0.999 |
| 11:8621131:C:T | C973Y | 0.999 |
| 11:8621132:A:G | C973R | 0.999 |
| 11:8621688:A:G | L895P | 0.999 |
| 11:8621733:A:G | F880S | 0.999 |
| 11:8621772:A:G | L867P | 0.999 |
| 11:8621781:A:G | L864P | 0.999 |
| 11:8640279:A:C | I554S | 0.999 |
| 11:8640279:A:T | I554N | 0.999 |
| 11:8640288:A:T | I551N | 0.999 |
| 11:8640291:T:G | Q550P | 0.999 |
| 11:8640294:C:A | G549V | 0.999 |
| 11:8640294:C:T | G549E | 0.999 |
| 11:8640295:C:A | G549W | 0.999 |
| 11:8640295:C:G | G549R | 0.999 |
| 11:8640295:C:T | G549R | 0.999 |
| 11:8640300:A:C | I547S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000019518 (11:8673725 T>A), RS1000020113 (11:8636165 CCA>C), RS1000036465 (11:8681402 G>A), RS1000090916 (11:8642665 A>G), RS1000152110 (11:8670414 T>C), RS1000159804 (11:8630134 G>A), RS1000167232 (11:8670764 T>C), RS1000180411 (11:8670701 C>T), RS1000207608 (11:8626399 A>G), RS1000219760 (11:8636509 C>T), RS1000259563 (11:8676233 T>C), RS1000294143 (11:8642321 A>G), RS1000418307 (11:8642983 G>A), RS1000432634 (11:8671007 G>A), RS1000459990 (11:8676263 T>C)
Disease associations
OMIM: gene MIM:612000 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
32 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_26 | Menarche (age at onset) | 1.000000e-08 |
| GCST002541_83 | Menarche (age at onset) | 3.000000e-12 |
| GCST002783_113 | Body mass index | 2.000000e-08 |
| GCST002783_128 | Body mass index | 3.000000e-11 |
| GCST002783_359 | Body mass index | 8.000000e-12 |
| GCST002783_597 | Body mass index | 9.000000e-06 |
| GCST003993_17 | Menarche (age at onset) | 6.000000e-06 |
| GCST004064_64 | Waist-hip ratio | 2.000000e-06 |
| GCST004064_68 | Waist-hip ratio | 8.000000e-09 |
| GCST004065_19 | Waist circumference | 5.000000e-09 |
| GCST004065_7 | Waist circumference | 5.000000e-07 |
| GCST004495_83 | BMI (adjusted for smoking behaviour) | 1.000000e-06 |
| GCST004497_61 | Body mass index (joint analysis main effects and smoking interaction) | 5.000000e-06 |
| GCST004557_17 | Body mass index | 2.000000e-10 |
| GCST004557_200 | Body mass index | 2.000000e-09 |
| GCST004557_229 | Body mass index | 9.000000e-11 |
| GCST004557_99 | Body mass index | 1.000000e-09 |
| GCST004558_14 | Body mass index (joint analysis main effects and physical activity interaction) | 1.000000e-09 |
| GCST004558_149 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-10 |
| GCST004558_171 | Body mass index (joint analysis main effects and physical activity interaction) | 8.000000e-09 |
| GCST004558_97 | Body mass index (joint analysis main effects and physical activity interaction) | 1.000000e-08 |
| GCST004559_12 | Body mass index in physically active individuals | 2.000000e-08 |
| GCST004559_130 | Body mass index in physically active individuals | 1.000000e-07 |
| GCST004559_50 | Body mass index in physically active individuals | 1.000000e-07 |
| GCST004559_92 | Body mass index in physically active individuals | 1.000000e-08 |
| GCST004904_234 | Body mass index | 1.000000e-17 |
| GCST005950_10 | Body mass index x sex x age interaction (4df test) | 6.000000e-11 |
| GCST005951_51 | Body mass index | 8.000000e-11 |
| GCST005953_4 | Body mass index (age <50) | 4.000000e-11 |
| GCST006802_3 | Body mass index | 2.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0004340 | body mass index |
| EFO:0004343 | waist-hip ratio |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4296267 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Non-enzymatic BRD containing proteins
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4650193 | Binding | Thermal Shift Assay. Domain start/stop: M1091-S1218 | EUbOPEN bromodomain assay panel |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TU49 | HAP1 TRIM66 (-) 1 | Cancer cell line | Male |
| CVCL_TU50 | HAP1 TRIM66 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.