BTBD2
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Summary
BTBD2 (BTB domain containing 2, HGNC:15504) is a protein-coding gene on chromosome 19p13.3, encoding BTB/POZ domain-containing protein 2 (Q9BX70).
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies.
Source: NCBI Gene 55643 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_017797
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15504 |
| Approved symbol | BTBD2 |
| Name | BTB domain containing 2 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000133243 |
| Ensembl biotype | protein_coding |
| OMIM | 608531 |
| Entrez | 55643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000255608, ENST00000587225, ENST00000587742, ENST00000587825, ENST00000588395, ENST00000589200, ENST00000589685, ENST00000590646, ENST00000592082, ENST00000592895, ENST00000611545, ENST00000936983
RefSeq mRNA: 1 — MANE Select: NM_017797
NM_017797
CCDS: CCDS12078
Canonical transcript exons
ENST00000255608 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001055897 | 2015297 | 2015714 |
| ENSE00003468647 | 1990004 | 1990201 |
| ENSE00003481733 | 1986830 | 1986976 |
| ENSE00003508526 | 1990717 | 1990822 |
| ENSE00003547077 | 1985448 | 1986649 |
| ENSE00003562305 | 1993020 | 1993176 |
| ENSE00003566477 | 1987500 | 1987692 |
| ENSE00003636242 | 1987166 | 1987253 |
| ENSE00003637208 | 1997344 | 1997463 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 98.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.5797 / max 126.1598, expressed in 1788 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178098 | 20.8519 | 1786 |
| 178097 | 0.5742 | 371 |
| 178099 | 0.1536 | 88 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 98.03 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.02 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.53 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.52 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.52 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.13 | gold quality |
| right uterine tube | UBERON:0001302 | 96.98 | gold quality |
| amygdala | UBERON:0001876 | 96.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.68 | gold quality |
| right ovary | UBERON:0002118 | 96.56 | gold quality |
| ventricular zone | UBERON:0003053 | 96.46 | gold quality |
| cortical plate | UBERON:0005343 | 96.44 | gold quality |
| apex of heart | UBERON:0002098 | 96.39 | gold quality |
| left ovary | UBERON:0002119 | 96.33 | gold quality |
| cerebellum | UBERON:0002037 | 96.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.10 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.64 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.53 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.49 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.46 | gold quality |
| endocervix | UBERON:0000458 | 95.32 | gold quality |
| body of uterus | UBERON:0009853 | 95.31 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.29 | gold quality |
| granulocyte | CL:0000094 | 95.22 | gold quality |
| left uterine tube | UBERON:0001303 | 95.22 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.19 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.09 | gold quality |
| ectocervix | UBERON:0012249 | 95.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting BTBD2, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-873-5P | 98.84 | 66.90 | 1348 |
| HSA-MIR-6838-3P | 98.40 | 65.88 | 559 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-6815-5P | 96.05 | 65.55 | 662 |
| HSA-MIR-6865-5P | 96.05 | 65.58 | 675 |
| HSA-MIR-3622B-5P | 94.62 | 64.58 | 835 |
| HSA-MIR-4743-5P | 88.08 | 64.31 | 91 |
| HSA-MIR-1247-5P | 85.92 | 61.07 | 65 |
Literature-anchored findings (GeneRIF, showing 3)
- subcellular colocalization of BTBD1 and BTBD2 to cytoplasmic bodies; TRIM5delta colocalized with BTBD1/2 and appeared to serve as a scaffold for the assembly of endogenous BTBD1/2 proteins (PMID:12878161)
- Polymorphisms in the LIG4, BTBD2, HMGA2, and RTEL1 genes, which are involved in the double-strand break repair pathway, are associated with glioblastoma multiforme survival. (PMID:20368557)
- Interaction of BTBD1 and BTBD2 with TOP1 requires TOP1 residues 236 and 237, the same residues required to enhance the infectivity of progeny virions when TOP1 is expressed in African Green Monkey producer cells. (PMID:21092135)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | btbd2a | ENSDARG00000042091 |
| danio_rerio | btbd2b | ENSDARG00000104653 |
| mus_musculus | Btbd2 | ENSMUSG00000003344 |
| rattus_norvegicus | Btbd2 | ENSRNOG00000018788 |
| drosophila_melanogaster | BTBD9 | FBGN0030228 |
| drosophila_melanogaster | CG17068 | FBGN0031098 |
| drosophila_melanogaster | lute | FBGN0262871 |
| caenorhabditis_elegans | WBGENE00015463 |
Paralogs (11): BTBD1 (ENSG00000064726), ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), KBTBD4 (ENSG00000123444), BTBD3 (ENSG00000132640), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), ABTB2 (ENSG00000166016), KLHL11 (ENSG00000178502), BTBD9 (ENSG00000183826), BTBD6 (ENSG00000184887)
Protein
Protein identifiers
BTB/POZ domain-containing protein 2 — Q9BX70 (reviewed: Q9BX70)
All UniProt accessions (7): A0A087WUX2, A0A087WXN3, A0A087WY57, A0A087X147, Q9BX70, K7EMW9, K7ENV9
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with topoisomerase 1 and with TRIM5 isoform Delta.
Subcellular location. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BX70-1 | 1 | yes |
| Q9BX70-2 | 2 |
RefSeq proteins (1): NP_060267* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR012983 | PHR | Domain |
| IPR038648 | PHR_sf | Homologous_superfamily |
Pfam: PF00651, PF07707, PF08005
UniProt features (25 total): strand 14, compositionally biased region 4, turn 2, chain 1, domain 1, region of interest 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NO8 | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BX70-F1 | 84.82 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 96 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, AAGCCAT_MIR135A_MIR135B, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_NEUROGENESIS, BROWNE_HCMV_INFECTION_48HR_DN, RICKMAN_METASTASIS_DN, CAATGCA_MIR33, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SENESE_HDAC3_TARGETS_DN, GOCC_RIBONUCLEOPROTEIN_GRANULE, chr19p13, MORF_ACTG1, VERHAAK_GLIOBLASTOMA_CLASSICAL, GOCC_P_BODY
GO Biological Process (1): neurogenesis (GO:0022008)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): P-body (GO:0000932), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| nervous system development | 1 |
| cell differentiation | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
646 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BTBD2 | TRIM5 | Q9C035 | 942 |
| BTBD2 | TOP1 | P11387 | 811 |
| BTBD2 | UBE2D2 | P51669 | 613 |
| BTBD2 | CUL3 | Q13618 | 598 |
| BTBD2 | RBX1 | P62877 | 543 |
| BTBD2 | WDSUB1 | Q8N9V3 | 539 |
| BTBD2 | HESX1 | Q9UBX0 | 518 |
| BTBD2 | SIAH1 | Q8IUQ4 | 506 |
| BTBD2 | TRIM34 | Q9BYJ4 | 494 |
| BTBD2 | TRIM6 | Q9C030 | 492 |
| BTBD2 | LONP2 | Q86WA8 | 489 |
| BTBD2 | TOB1 | P50616 | 482 |
| BTBD2 | LMBRD2 | Q68DH5 | 466 |
| BTBD2 | TOPORS | Q9NS56 | 462 |
| BTBD2 | CHD3 | Q12873 | 439 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL3 | KLHL12 | psi-mi:“MI:0914”(association) | 0.920 |
| COPS5 | COPS2 | psi-mi:“MI:0914”(association) | 0.910 |
| COPS2 | GPS1 | psi-mi:“MI:0914”(association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| COPS5 | CUL4A | psi-mi:“MI:0914”(association) | 0.840 |
| CUL3 | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| BTBD1 | BTBD2 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| BTBD2 | BTBD1 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| PSMD5 | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MLH1 | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BTBD2 | OSGIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCNC | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BTBD2 | NGB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CINP | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | BTBD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COPS5 | KLHL18 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| BTBD1 | TRAPPC10 | psi-mi:“MI:0914”(association) | 0.530 |
| COPS3 | HBB | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (102): BTBD2 (Affinity Capture-Western), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS), BTBD2 (Affinity Capture-MS)
ESM2 similar proteins: A0A072VIM5, A2AQW0, B5X561, F4JSE7, O04615, O35099, O81916, O82343, O94955, P58544, Q0IY07, Q0JC27, Q10MI4, Q2HW56, Q53NI2, Q5ZJ87, Q66J91, Q6E7H0, Q6PNC0, Q6ZN16, Q7ZX59, Q80WG7, Q84UI6, Q8CFE5, Q8LPQ5, Q8NEA9, Q8S8F2, Q8VYP9, Q8VZF6, Q8W032, Q8W519, Q94BM7, Q99683, Q9BX70, Q9CAJ9, Q9CTN4, Q9FLR0, Q9FNP1, Q9FPW6, Q9FYF9
Diamond homologs: A0A2R8Q1W5, A4IFG2, A9JRD8, B7U179, F1RD40, F7ASZ0, G3X9X1, M3XQV7, O75592, P57790, P58544, P58545, Q0V9W6, Q14145, Q17551, Q2LE78, Q5R774, Q5TZE1, Q684M4, Q7TPH6, Q8BHI4, Q8IY47, Q8K2J9, Q96KE9, Q96Q07, Q9BX70, Q9H0C5, Q9W2S3, Q9Y2F9, Q9Z2X8, A6NED2, D3ZGQ5, O95199, O95714, P0C5Y8, P18754, P23800, P25171, P25183, Q15034
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 86 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 |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 10 | 52.9× | 9e-13 |
| Formation of TC-NER Pre-Incision Complex | 10 | 39.2× | 1e-11 |
| Cargo recognition for clathrin-mediated endocytosis | 9 | 17.5× | 2e-07 |
| Neddylation | 12 | 10.5× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 8 | 97.3× | 2e-12 |
| protein neddylation | 7 | 63.8× | 2e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1282 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:1986645:GGGCC:G | acceptor_gain | 1.0000 |
| 19:1986646:GGCC:G | acceptor_gain | 1.0000 |
| 19:1986647:GCC:G | acceptor_gain | 1.0000 |
| 19:1986648:CC:C | acceptor_gain | 1.0000 |
| 19:1986648:CCC:C | acceptor_gain | 1.0000 |
| 19:1986649:CCTG:C | acceptor_gain | 1.0000 |
| 19:1986650:C:CC | acceptor_gain | 1.0000 |
| 19:1986650:CTGTA:C | acceptor_loss | 1.0000 |
| 19:1986651:T:C | acceptor_loss | 1.0000 |
| 19:1986826:GCAC:G | donor_loss | 1.0000 |
| 19:1986827:CACC:C | donor_loss | 1.0000 |
| 19:1986972:ATAAT:A | acceptor_gain | 1.0000 |
| 19:1986973:TAAT:T | acceptor_gain | 1.0000 |
| 19:1986974:AAT:A | acceptor_gain | 1.0000 |
| 19:1986974:AATC:A | acceptor_loss | 1.0000 |
| 19:1986975:AT:A | acceptor_gain | 1.0000 |
| 19:1986976:TC:T | acceptor_loss | 1.0000 |
| 19:1986977:C:CA | acceptor_loss | 1.0000 |
| 19:1986977:C:CC | acceptor_gain | 1.0000 |
| 19:1986978:T:G | acceptor_loss | 1.0000 |
| 19:1987162:GTAC:G | donor_loss | 1.0000 |
| 19:1987163:TA:T | donor_loss | 1.0000 |
| 19:1987164:A:C | donor_loss | 1.0000 |
| 19:1987165:C:A | donor_loss | 1.0000 |
| 19:1987252:ACCT:A | acceptor_loss | 1.0000 |
| 19:1987254:C:A | acceptor_loss | 1.0000 |
| 19:1987499:C:CA | donor_loss | 1.0000 |
| 19:1987692:CCT:C | acceptor_loss | 1.0000 |
| 19:1987693:C:CC | acceptor_gain | 1.0000 |
| 19:1987693:C:CG | acceptor_loss | 1.0000 |
AlphaMissense
3413 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:1986510:G:C | P519R | 1.000 |
| 19:1986510:G:T | P519H | 1.000 |
| 19:1986513:A:C | I518S | 1.000 |
| 19:1986513:A:G | I518T | 1.000 |
| 19:1986513:A:T | I518N | 1.000 |
| 19:1986515:C:A | Q517H | 1.000 |
| 19:1986515:C:G | Q517H | 1.000 |
| 19:1986516:T:C | Q517R | 1.000 |
| 19:1986519:C:A | G516V | 1.000 |
| 19:1986519:C:G | G516A | 1.000 |
| 19:1986519:C:T | G516D | 1.000 |
| 19:1986520:C:A | G516C | 1.000 |
| 19:1986520:C:G | G516R | 1.000 |
| 19:1986520:C:T | G516S | 1.000 |
| 19:1986521:G:C | D515E | 1.000 |
| 19:1986521:G:T | D515E | 1.000 |
| 19:1986522:T:A | D515V | 1.000 |
| 19:1986522:T:G | D515A | 1.000 |
| 19:1986523:C:A | D515Y | 1.000 |
| 19:1986523:C:G | D515H | 1.000 |
| 19:1986525:T:A | E514V | 1.000 |
| 19:1986526:C:T | E514K | 1.000 |
| 19:1986531:G:A | S512F | 1.000 |
| 19:1986531:G:T | S512Y | 1.000 |
| 19:1986532:A:G | S512P | 1.000 |
| 19:1986534:G:A | T511I | 1.000 |
| 19:1986534:G:C | T511R | 1.000 |
| 19:1986534:G:T | T511K | 1.000 |
| 19:1986535:T:C | T511A | 1.000 |
| 19:1986537:C:A | G510V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000225194 (19:2009316 A>G), RS1000316997 (19:1985037 C>T), RS1000334046 (19:2004684 G>A), RS1000495959 (19:2009160 A>G), RS1000498033 (19:1996622 G>A), RS1000615184 (19:2003854 A>T), RS1000654965 (19:1996910 C>T), RS1000658560 (19:1986428 A>C,T), RS1000667777 (19:2012485 G>A), RS1000767633 (19:2000155 G>A), RS1000935831 (19:2012283 G>A), RS1001047967 (19:2004063 T>TCAATG), RS1001100328 (19:2007664 A>C), RS1001146848 (19:2012662 C>T), RS1001155417 (19:2016228 A>C)
Disease associations
OMIM: gene MIM:608531 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004603_189 | Platelet count | 8.000000e-09 |
| GCST007396_2 | Mitochondrial DNA copy number (white blood cells) | 5.000000e-08 |
| GCST90002400_257 | Plateletcrit | 1.000000e-09 |
| GCST90002401_569 | Platelet distribution width | 6.000000e-18 |
| GCST90002402_607 | Platelet count | 4.000000e-15 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0006312 | mitochondrial DNA measurement |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| cupric chloride | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol AF | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Carcinogens | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Zinc | affects expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma