BMF

Summary

BMF (Bcl2 modifying factor, HGNC:24132) is a protein-coding gene on chromosome 15q15.1, encoding Bcl-2-modifying factor (Q96LC9). May play a role in apoptosis.

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 90427 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_001003940

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24132
Approved symbol	BMF
Name	Bcl2 modifying factor
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00065
Ensembl gene	ENSG00000104081
Ensembl biotype	protein_coding
OMIM	606266
Entrez	90427

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 22 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000354670, ENST00000397573, ENST00000431415, ENST00000557870, ENST00000558057, ENST00000558774, ENST00000559701, ENST00000560430, ENST00000561282, ENST00000561360, ENST00000874092, ENST00000874093, ENST00000874094, ENST00000874095, ENST00000874096, ENST00000874097, ENST00000925047, ENST00000925048, ENST00000925049, ENST00000925050, ENST00000925051, ENST00000925052, ENST00000970130

RefSeq mRNA: 20 — MANE Select: NM_001003940 NM_001003940, NM_001003942, NM_001003943, NM_001398495, NM_001398496, NM_001398497, NM_001398498, NM_001398499, NM_001398500, NM_001398501, NM_001398502, NM_001398503, NM_001398504, NM_001398505, NM_001398506, NM_001398507, NM_001398508, NM_001398509, NM_001398510, NM_033503

CCDS: CCDS10052, CCDS32196, CCDS45223

Canonical transcript exons

ENST00000354670 — 5 exons

Exon	Start	End
ENSE00000675369	40104180	40104340
ENSE00001390921	40105795	40106091
ENSE00001428180	40108259	40108386
ENSE00001956142	40087890	40091888
ENSE00002562084	40108773	40108879

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 90.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4691 / max 154.5292, expressed in 1388 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149477	7.0144	1301
149478	0.8040	499
149474	0.2851	142
149475	0.2002	105
149476	0.1654	90

Top tissues by expression

242 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	90.49	gold quality
bone marrow cell	CL:0002092	90.40	gold quality
leukocyte	CL:0000738	90.37	gold quality
granulocyte	CL:0000094	89.44	gold quality
islet of Langerhans	UBERON:0000006	87.24	gold quality
pancreatic ductal cell	CL:0002079	85.76	silver quality
right lobe of thyroid gland	UBERON:0001119	85.45	gold quality
left lobe of thyroid gland	UBERON:0001120	85.23	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.84	gold quality
gall bladder	UBERON:0002110	84.41	gold quality
small intestine	UBERON:0002108	84.29	gold quality
thyroid gland	UBERON:0002046	84.04	gold quality
spleen	UBERON:0002106	83.90	gold quality
vermiform appendix	UBERON:0001154	83.18	gold quality
jejunal mucosa	UBERON:0000399	82.54	gold quality
duodenum	UBERON:0002114	82.54	gold quality
ileal mucosa	UBERON:0000331	82.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.98	gold quality
lymph node	UBERON:0000029	81.59	gold quality
smooth muscle tissue	UBERON:0001135	81.23	gold quality
blood	UBERON:0000178	81.22	gold quality
left uterine tube	UBERON:0001303	81.11	gold quality
colonic epithelium	UBERON:0000397	81.04	gold quality
body of uterus	UBERON:0009853	80.87	gold quality
pancreas	UBERON:0001264	80.64	gold quality
right ovary	UBERON:0002118	80.11	gold quality
caecum	UBERON:0001153	79.72	gold quality
minor salivary gland	UBERON:0001830	79.61	gold quality
metanephros cortex	UBERON:0010533	79.59	gold quality
mucosa of stomach	UBERON:0001199	79.45	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.94
E-MTAB-4850	no	64.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

165 targeting BMF, 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-8485	100.00	77.57	4731
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-153-5P	99.89	73.86	6317

Literature-anchored findings (GeneRIF, showing 23)

• Up or downregulation of Bmf isoforms may have a role in regulating growth and survival in B cells and leukemic B-CLL cells (PMID:14574334)
• There was no somatic mutation of BH3 domains of Bad, Bmf and Bcl-G genes in transitional cell carcinoma samples. The data presented here indicate that BH3 domain mutation of these genes is rare in TCCs and may not contribute to the pathogenesis of TCCs. (PMID:16484005)
• histone hyperacetylation may enhance ionizing radiation-induced death via activation of Bmf transcription, thereby implying Bmf as a key molecule for HDAC inhibitors (FK228 and CBHA)-mediated enhancing effect on IR-induced cell death (PMID:16830229)
• Bmf is a central mediator of anoikis in mammary cells and a target of oncogenes that contribute to the progression of glandular epithelial tumors (PMID:17360431)
• data presented here indicate that BH3 domain mutation of the proapoptotic genes Bad, Bmf and Bcl-G is rare in laryngeal squamous cell carcinoma and may not contribute to the apoptosis-resistance mechanisms of laryngeal squamous cell carcinoma (PMID:17557568)
• arsenic trioxide upregulated expression of Bmf, Noxa, and Bim. Silencing of Bmf, Noxa, and Bim significantly protected MM cells from ATO-induced apoptosis (PMID:18354037)
• Bmf is upregulated by PS-341 and has a crucial role in PS-341-mediated glioma cell death through JNK phosphorylation. (PMID:19267218)
• Our data indicate a synergistic role for both bim and Bmf in an apoptotic pathway leading to the clearance of Neisseria gonorrhoeae -infected cells. (PMID:19300516)
• Bmf supports Bim in regulating cell death processes in response to many stimuli. Review. (PMID:19641506)
• MicroRNA-221 targets Bmf in hepatocellular carcinoma and correlates with tumor multifocality. (PMID:19671867)
• characterization of the bmf gene locus; molecular basis of the generation of the 2 major isoforms of Bmf; provide evidence that Bmf can act as a sensor for stress that associates with the repression of the conventional CAP-dependent translation machinery (PMID:20706276)
• Data show that hypoxic conditions inhibit anoikis and block expression of proapoptotic BH3-only family members Bim and Bmf in epithelial cells. (PMID:20861305)
• BMF is induced in human IEC by the loss of cell attachment and is likely to play an important role in the regulation of IEC survival (PMID:21673109)
• Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf. (PMID:23192964)
• Overexpression of ApoL2 did not induce cell death on its own. ApoL2 did not sensitize or protect cells from overexpression of the BH3-only proteins Bmf or Noxa. (PMID:24901046)
• On the corresponding BMF gene promoter, loss of HDAC8 was associated with signal transducer and activator of transcription 3 (STAT3)/specificity protein 3 (Sp3) transcription factor exchange and recruitment of p300. (PMID:25321483)
• these findings suggest that p53-R273H can specifically drive AKT signaling and suppress BMF expression, resulting in enhanced cell survivability and anoikis resistance. (PMID:26181206)
• The findings are consistent with rs539846 influencing chronic lymphocytic leukemia (CLL) susceptibility through differential RELA binding, with direct modulation of BMF expression impacting on anti-apoptotic BCL2, a hallmark of oncogenic dependency in CLL. (PMID:27524613)
• Reciprocal regulation of BMF and BIRC5 is linked to Eomes overexpression in colorectal cancer. (PMID:27539959)
• Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression (PMID:27899442)
• Characterization of an alternative BAK-binding site for BH3 peptides. (PMID:32620849)
• The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival. (PMID:33149265)
• FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2. (PMID:33658012)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bmf2	ENSDARG00000041414
mus_musculus	Bmf	ENSMUSG00000040093
rattus_norvegicus	Bmf	ENSRNOG00000007529

Protein

Protein identifiers

Bcl-2-modifying factor — Q96LC9 (reviewed: Q96LC9)

All UniProt accessions (3): Q96LC9, H0YK50, H0YNT3

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in apoptosis. Isoform 1 seems to be the main initiator.

Subunit / interactions. Interacts with MCL1, BCL2, BCL2L1/BCL-Xl, BCL2A1 and BCL2L2/BCL-w. Interacts with the myosin V actin motor complex through its binding to DLC2.

Tissue specificity. Isoform 1 is mainly expressed in B-lymphoid cells. Isoform 2 and isoform 3 are mainly expressed in B-CLL and normal B-cells.

Similarity. Belongs to the Bcl-2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96LC9-1	1, BMF-I	yes
Q96LC9-2	2, BMF-II
Q96LC9-3	3, BMF-III

RefSeq proteins (20): NP_001003940, NP_001003942, NP_001003943, NP_001385424, NP_001385425, NP_001385426, NP_001385427, NP_001385428, NP_001385429, NP_001385430, NP_001385431, NP_001385432, NP_001385433, NP_001385434, NP_001385435, NP_001385436, NP_001385437, NP_001385438, NP_001385439, NP_277038 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028192	BMF	Family

Pfam: PF15185

UniProt features (10 total): splice variant 3, sequence conflict 2, chain 1, region of interest 1, short sequence motif 1, strand 1, helix 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
8IQM	X-RAY DIFFRACTION	1.97
7CNU	X-RAY DIFFRACTION	2
8R58	X-RAY DIFFRACTION	2.31
8IQK	X-RAY DIFFRACTION	2.88
8IQL	X-RAY DIFFRACTION	2.96

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LC9-F1	62.81	0.16

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-111453	BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
R-HSA-139910	Activation of BMF and translocation to mitochondria
R-HSA-109581	Apoptosis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-114452	Activation of BH3-only proteins
R-HSA-5357801	Programmed Cell Death

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): negative regulation of autophagy (GO:0010507), positive regulation of protein-containing complex assembly (GO:0031334), positive regulation of apoptotic process (GO:0043065), anoikis (GO:0043276), positive regulation of release of cytochrome c from mitochondria (GO:0090200), apoptotic process (GO:0006915), cellular response to UV (GO:0034644)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): mitochondrial outer membrane (GO:0005741), cytosol (GO:0005829), plasma membrane (GO:0005886), myosin complex (GO:0016459)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Intrinsic Pathway for Apoptosis	2
Activation of BH3-only proteins	1
Programmed Cell Death	1
Apoptosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic process	2
autophagy	1
negative regulation of catabolic process	1
regulation of autophagy	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
release of cytochrome c from mitochondria	1
positive regulation of organelle organization	1
regulation of release of cytochrome c from mitochondria	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
response to UV	1
cellular response to light stimulus	1
binding	1
mitochondrial membrane	1
organelle outer membrane	1
cytoplasm	1
cellular anatomical structure	1
membrane	1
cell periphery	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BMF	BCL2	P10415	995
BMF	BCL2L2-PABPN1	Q92843	993
BMF	BCL2L1	Q07817	986
BMF	MCL1	Q07820	961
BMF	BIK	Q13323	950
BMF	BCL2L11	O43521	894
BMF	PMAIP1	Q13794	855
BMF	HRK	O00198	832
BMF	BCL2A1	Q16548	755
BMF	RTL10	Q7L3V2	716
BMF	BCL2L10	Q9HD36	614
BMF	BBC3	Q96PG8	605
BMF	CYCS	P00001	594
BMF	BAK1	Q16611	591
BMF	DYNLL1	P63167	574

IntAct

106 interactions, top by confidence:

A	B	Type	Score
BCL2L1	BMF	psi-mi:“MI:0915”(physical association)	0.810
BMF	BCL2L1	psi-mi:“MI:0915”(physical association)	0.810
TFIP11	BMF	psi-mi:“MI:0915”(physical association)	0.780
BMF	TFIP11	psi-mi:“MI:0915”(physical association)	0.780
BCL2L2	BMF	psi-mi:“MI:0915”(physical association)	0.720
BMF	BCL2L2	psi-mi:“MI:0915”(physical association)	0.720
REL	BMF	psi-mi:“MI:0915”(physical association)	0.560
DYNLL2	BMF	psi-mi:“MI:0915”(physical association)	0.560
BMF	SEC14L4	psi-mi:“MI:0915”(physical association)	0.560
BMF	REL	psi-mi:“MI:0915”(physical association)	0.560
BMF	DYNLL2	psi-mi:“MI:0915”(physical association)	0.560
SEC14L4	BMF	psi-mi:“MI:0915”(physical association)	0.560
BCL2L1	BMF	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (58): BMF (Protein-peptide), BMF (Protein-peptide), BMF (Two-hybrid), BMF (Two-hybrid), BMF (Two-hybrid), BMF (Two-hybrid), DYNLL2 (Two-hybrid), SEC14L4 (Two-hybrid), BMF (Protein-peptide), BMF (Protein-peptide), BMF (Protein-peptide), BMF (Protein-peptide), BMF (Protein-peptide), BMF (Two-hybrid), BMF (Affinity Capture-RNA)

ESM2 similar proteins: A0A088MLT8, A6NNE9, A6P320, B3KU38, B5DF41, D4AE48, G3V9M2, O15079, O43521, O54918, O75081, O88498, P0C1G7, P0DPB3, P0DPB4, P49796, P53349, P78524, Q14DQ1, Q1LY51, Q3U3E2, Q50H33, Q5FVG6, Q5XKK7, Q60698, Q62925, Q68FF7, Q6P1L5, Q6ZNC4, Q7TNF9, Q80TE3, Q80U23, Q80U62, Q80UZ0, Q86VQ1, Q8BGW2, Q8BWU3, Q8CBH7, Q8IWP9, Q8K3I9

Diamond homologs: Q8K589, Q91ZE9, Q96LC9

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
MAPK1	up-regulates	BMF	phosphorylation
MAPK8	“up-regulates activity”	BMF	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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.

GO biological processes:

GO term	Partners	Fold	FDR
release of cytochrome c from mitochondria	5	140.4×	4e-08
extrinsic apoptotic signaling pathway in absence of ligand	6	112.3×	4e-09
intrinsic apoptotic signaling pathway in response to DNA damage	5	64.8×	2e-06
positive regulation of apoptotic process	7	15.9×	1e-05
negative regulation of apoptotic process	9	12.5×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

38 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1325 predictions. Top by Δscore:

Variant	Effect	Δscore
15:40091735:T:TA	donor_gain	1.0000
15:40104178:A:AC	donor_gain	1.0000
15:40104179:C:CC	donor_gain	1.0000
15:40104179:CTTG:C	donor_gain	1.0000
15:40108715:T:TA	donor_gain	1.0000
15:40108716:C:A	donor_gain	1.0000
15:40108772:CCGGG:C	donor_gain	1.0000
15:40091414:A:C	donor_gain	0.9900
15:40091446:T:TA	donor_gain	0.9900
15:40091447:C:A	donor_gain	0.9900
15:40091719:T:TA	donor_gain	0.9900
15:40091793:AGGG:A	donor_gain	0.9900
15:40091807:T:A	donor_gain	0.9900
15:40104182:G:A	donor_gain	0.9900
15:40105890:T:TA	donor_gain	0.9900
15:40106087:CTCTC:C	acceptor_gain	0.9900
15:40106089:CTC:C	acceptor_gain	0.9900
15:40106089:CTCCT:C	acceptor_loss	0.9900
15:40106090:TCCTG:T	acceptor_loss	0.9900
15:40106091:CCTGT:C	acceptor_loss	0.9900
15:40106092:C:CC	acceptor_gain	0.9900
15:40106092:CTGT:C	acceptor_loss	0.9900
15:40106093:T:A	acceptor_loss	0.9900
15:40108766:CGCT:C	donor_loss	0.9900
15:40108767:GCTC:G	donor_loss	0.9900
15:40108768:CTCA:C	donor_loss	0.9900
15:40108769:TCAC:T	donor_loss	0.9900
15:40108770:C:CG	donor_loss	0.9900
15:40108771:A:AC	donor_gain	0.9900
15:40108772:C:CC	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000091989 (15:40108473 G>C), RS1000186331 (15:40091333 A>C,G), RS1000206114 (15:40108157 G>A,C), RS1000346497 (15:40096704 T>C), RS1000479297 (15:40102343 C>A,T), RS1000493119 (15:40087442 C>T), RS1000580816 (15:40107306 A>T), RS1000950057 (15:40095423 C>T), RS1001079079 (15:40103601 C>T), RS1001211887 (15:40109168 G>A,T), RS1001428895 (15:40107672 G>A), RS1001511164 (15:40088621 C>G,T), RS1001737211 (15:40093439 C>A,T), RS1001811046 (15:40108028 C>T), RS1001842253 (15:40108281 C>T)

Disease associations

OMIM: gene MIM:606266 | 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

18 associations (top):

Study	Trait	p-value
GCST001038_2	Dehydroepiandrosterone sulphate levels	5.000000e-11
GCST001407_2	Ewing sarcoma	7.000000e-09
GCST002299_16	Chronic lymphocytic leukemia	2.000000e-06
GCST003468_14	Chronic lymphocytic leukemia	3.000000e-10
GCST003524_4	Endometrial cancer	2.000000e-08
GCST003525_3	Endometrial endometrioid carcinoma	2.000000e-07
GCST004099_12	B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)	4.000000e-07
GCST004146_18	Chronic lymphocytic leukemia	7.000000e-19
GCST006464_21	Endometrial cancer	5.000000e-09
GCST006465_31	Endometrial cancer (endometrioid histology)	7.000000e-10
GCST007429_128	Lung function (FVC)	2.000000e-12
GCST007431_22	Lung function (FEV1/FVC)	7.000000e-13
GCST010244_413	Triglyceride levels	5.000000e-10
GCST90002388_144	Lymphocyte count	9.000000e-11
GCST90002394_487	Monocyte percentage of white cells	2.000000e-19
GCST90020028_1880	Hip circumference adjusted for BMI	9.000000e-09
GCST90020028_1881	Hip circumference adjusted for BMI	4.000000e-11
GCST90020028_1882	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement
EFO:1001514	endometrial endometrioid carcinoma
EFO:0004312	vital capacity
EFO:0004713	FEV/FVC ratio
EFO:0004530	triglyceride measurement
EFO:0004587	lymphocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0008039	BMI-adjusted hip circumference

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

81 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, affects binding, decreases expression, affects cotreatment	9
Tetrachlorodibenzodioxin	affects expression, increases expression, affects reaction	7
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	5
Valproic Acid	decreases expression, increases methylation	3
Cyclosporine	decreases expression	3
Zoledronic Acid	increases expression	2
Vorinostat	increases expression	2
Leflunomide	increases expression	2
Cisplatin	decreases expression, increases expression	2
Fenofibrate	increases expression	2
Particulate Matter	affects expression, increases abundance, decreases expression, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
afuresertib	increases expression	1
FR900359	decreases phosphorylation	1
selenomethylselenocysteine	increases expression, increases reaction, affects binding, decreases reaction	1
chloroacetaldehyde	decreases expression	1
lasiocarpine	decreases expression	1
methyleugenol	increases expression	1
alpha phellandrene	increases expression	1
pirinixic acid	increases expression	1
bisphenol A	decreases expression	1
trichostatin A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cypermethrin	increases expression	1
sodium arsenite	decreases expression	1
zinc chromate	increases abundance, increases expression	1
ferrous chloride	decreases expression	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