MAML3

Summary

MAML3 (mastermind like transcriptional coactivator 3, HGNC:16272) is a protein-coding gene on chromosome 4q31.1, encoding Mastermind-like protein 3 (Q96JK9). Acts as a transcriptional coactivator for NOTCH proteins.

Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck.

Source: NCBI Gene 55534 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_018717

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16272
Approved symbol	MAML3
Name	mastermind like transcriptional coactivator 3
Location	4q31.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1816, MAM2, CAGH3, GDN
Ensembl gene	ENSG00000196782
Ensembl biotype	protein_coding
OMIM	608991
Entrez	55534

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000502696, ENST00000509479, ENST00000899537

RefSeq mRNA: 1 — MANE Select: NM_018717 NM_018717

CCDS: CCDS54805

Canonical transcript exons

ENST00000509479 — 5 exons

Exon	Start	End
ENSE00001481480	139725751	139725835
ENSE00001481481	139730416	139730667
ENSE00001623169	139889357	139890967
ENSE00002031346	140152860	140154184
ENSE00003401959	139716753	139720323

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 90.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.5307 / max 99.6345, expressed in 1117 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54115	3.0770	1072
54109	0.1478	50
54113	0.1262	47
54116	0.0904	29
54110	0.0892	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	90.08	gold quality
esophagus squamous epithelium	UBERON:0006920	87.75	gold quality
corpus epididymis	UBERON:0004359	86.65	gold quality
gingival epithelium	UBERON:0001949	85.42	gold quality
gingiva	UBERON:0001828	84.36	gold quality
skin of hip	UBERON:0001554	83.31	gold quality
cauda epididymis	UBERON:0004360	82.83	gold quality
parotid gland	UBERON:0001831	82.64	gold quality
visceral pleura	UBERON:0002401	82.62	gold quality
adrenal tissue	UBERON:0018303	81.91	gold quality
sural nerve	UBERON:0015488	81.85	gold quality
epithelium of esophagus	UBERON:0001976	81.59	gold quality
parietal pleura	UBERON:0002400	81.41	gold quality
caput epididymis	UBERON:0004358	81.29	gold quality
monocyte	CL:0000576	81.16	gold quality
amniotic fluid	UBERON:0000173	81.03	gold quality
pleura	UBERON:0000977	81.03	gold quality
mononuclear cell	CL:0000842	80.87	gold quality
upper leg skin	UBERON:0004262	80.50	gold quality
leukocyte	CL:0000738	80.47	gold quality
lower lobe of lung	UBERON:0008949	80.38	gold quality
squamous epithelium	UBERON:0006914	79.69	gold quality
palpebral conjunctiva	UBERON:0001812	79.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.86	gold quality
blood	UBERON:0000178	78.55	gold quality
tibia	UBERON:0000979	78.48	gold quality
oral cavity	UBERON:0000167	78.44	gold quality
calcaneal tendon	UBERON:0003701	77.82	gold quality
endothelial cell	CL:0000115	77.10	gold quality
cortical plate	UBERON:0005343	77.09	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	39.58
E-CURD-119	yes	22.15
E-HCAD-25	yes	16.24
E-ANND-3	yes	8.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting MAML3, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850

Literature-anchored findings (GeneRIF, showing 10)

• Identification of new human proteins defines a family that consists of positive regulators for notch signaling (PMID:12386158)
• Suggest that hypoxia promotes SMO transcription through upregulation of MAML3 and RBPJ to induce proliferation, invasiveness and tumorigenesis in pancreatic cancer. (PMID:26655998)
• The present study further expands the genetic spectrum of small blue round cell tumors, with 2 novel fusions, BCOR-MAML3 and ZC3H7B-BCOR, identified (PMID:26752546)
• Results show that overexpression of MAML3 confers resistance to retinoic acid in multiple neuroblastoma cell lines. (PMID:26785999)
• These results suggest that PSK suppresses Hedgehog signaling through down-regulation of MAML3 and RBPJ transcription under hypoxia, inhibiting the induction of a malignant phenotype in pancreatic cancer. Our results may lead to development of new treatments for refractory pancreatic cancer using PSK as a Hedgehog inhibitor (PMID:27466498)
• PTTG1IP and MAML3 are associated with BHR severity in adult asthma. The relevance of these genes is supported by the eQTL analyses and co-expression of PTTG1lP with vimentin and E-cadherin1, and MAML3 with MAML2. (PMID:27709636)
• These findings indicate that the miR-2392-MAML3/WHSC1-Slug/Twist1 regulatory axis plays a critical role in GC metastasis. (PMID:28512191)
• RBPJ and MAML3 could be new therapeutic targets for SCLC. (PMID:30061220)
• Mastermind Like Transcriptional Coactivator 3 (MAML3) Drives Neuroendocrine Tumor Progression. (PMID:33986121)
• MAML3 Contributes to Induction of Malignant Phenotype of Gallbladder Cancer Through Morphogenesis Signalling Under Hypoxia. (PMID:37351966)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	maml3	ENSDARG00000079552
mus_musculus	Maml3	ENSMUSG00000061143
rattus_norvegicus	Maml3	ENSRNOG00000067338

Paralogs (2): MAML1 (ENSG00000161021), MAML2 (ENSG00000184384)

Protein

Protein identifiers

Mastermind-like protein 3 — Q96JK9 (reviewed: Q96JK9)

All UniProt accessions (2): H0Y920, Q96JK9

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.

Subunit / interactions. Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.

Subcellular location. Nucleus speckle.

Domain organisation. The C-terminal domain is required for transcriptional activation.

Similarity. Belongs to the mastermind family.

RefSeq proteins (1): NP_061187* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019082	Mastermind-like_N	Domain
IPR046369	MAML1-3	Family
IPR046370	MAML_N_sf	Homologous_superfamily
IPR048455	MAML1_3_TAD2	Domain

Pfam: PF09596, PF20801

UniProt features (27 total): region of interest 11, compositionally biased region 11, sequence conflict 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JK9-F1	47.21	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 603

Function

Pathways and Gene Ontology

Reactome pathways

31 pathways

ID	Pathway
R-HSA-1912408	Pre-NOTCH Transcription and Translation
R-HSA-210744	Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-2122947	NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563	NOTCH2 intracellular domain regulates transcription
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054	Notch-HLH transcription pathway
R-HSA-8941856	RUNX3 regulates NOTCH signaling
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695	NOTCH4 Intracellular Domain Regulates Transcription
R-HSA-9793380	Formation of paraxial mesoderm
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)
R-HSA-1266738	Developmental Biology
R-HSA-157118	Signaling by NOTCH
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-186712	Regulation of beta-cell development
R-HSA-1912422	Pre-NOTCH Expression and Processing
R-HSA-1980143	Signaling by NOTCH1
R-HSA-1980145	Signaling by NOTCH2
R-HSA-212436	Generic Transcription Pathway
R-HSA-2644602	Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2644603	Signaling by NOTCH1 in Cancer
R-HSA-2894858	Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878159	Transcriptional regulation by RUNX3
R-HSA-9012852	Signaling by NOTCH3
R-HSA-9013694	Signaling by NOTCH4

MSigDB gene sets: 215 (showing top): RNGTGGGC_UNKNOWN, REACTOME_SIGNALING_BY_NOTCH, AAGCAAT_MIR137, NKX25_02, CHUNG_BLISTER_CYTOTOXICITY_DN, FOXO4_01, ACTGCAG_MIR173P, GTACAGG_MIR486, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GATA3_01, FREAC3_01, GATA1_01, WTGAAAT_UNKNOWN, ZIC1_01, AAAGGGA_MIR204_MIR211

GO Biological Process (3): Notch signaling pathway (GO:0007219), positive regulation of transcription of Notch receptor target (GO:0007221), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Signaling by NOTCH	3
Pre-NOTCH Expression and Processing	1
Regulation of beta-cell development	1
Signaling by NOTCH1	1
Signaling by NOTCH2	1
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX3	1
Signaling by NOTCH3	1
Signaling by NOTCH4	1
Gastrulation	1
Differentiation of T cells	1
Signal Transduction	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of DNA-templated transcription	2
cell surface receptor signaling pathway	1
Notch signaling pathway	1
positive regulation of transcription by RNA polymerase II	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
transcription coregulator activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1180 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAML3	RBPJ	Q06330	999
MAML3	NOTCH1	P46531	996
MAML3	NOTCH4	Q99466	909
MAML3	ANK1	P16157	870
MAML3	NOTCH3	Q9UM47	863
MAML3	ANK3	Q12955	860
MAML3	ANK2	Q01484	854
MAML3	GNLY	P09325	827
MAML3	JAG1	P78504	745
MAML3	CRTC1	Q6UUV9	745
MAML3	DLL1	O00548	723
MAML3	JAG2	Q9Y219	710
MAML3	SRRT	Q9BXP5	690
MAML3	EP300	Q09472	683
MAML3	DLL4	Q9NR61	676

IntAct

14 interactions, top by confidence:

A	B	Type	Score
MAML3	NOTCH1	psi-mi:“MI:0915”(physical association)	0.550
MAML3	NOTCH1	psi-mi:“MI:0915”(physical association)	0.500
MAML3	NOTCH1	psi-mi:“MI:0914”(association)	0.500
MAML3	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
RAI1	MAML3	psi-mi:“MI:0915”(physical association)	0.370
ZBTB1	MAML3	psi-mi:“MI:0915”(physical association)	0.370
SCMH1	MAML3	psi-mi:“MI:0915”(physical association)	0.370
ZZZ3	MAML3	psi-mi:“MI:0915”(physical association)	0.370
NFX1	MAML3	psi-mi:“MI:0915”(physical association)	0.370
SUPT5H	MAML3	psi-mi:“MI:0915”(physical association)	0.370
NOTCH1	CNOT1	psi-mi:“MI:0914”(association)	0.350
CDC20	MAML3	psi-mi:“MI:0915”(physical association)	0.000
MAML3	agaY	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): RBPJ (Affinity Capture-Western), MAML3 (Affinity Capture-RNA), MAML3 (Affinity Capture-RNA), MAML3 (Two-hybrid), MAML3 (Two-hybrid), MAML3 (Proximity Label-MS), MAML3 (Proximity Label-MS), MAML1 (Affinity Capture-Western), MAML3 (Two-hybrid), MAML3 (Proximity Label-MS), MAML3 (Affinity Capture-MS), MAML3 (Affinity Capture-MS), MAML3 (Affinity Capture-RNA), MAML3 (Proximity Label-MS), MAML3 (Two-hybrid)

ESM2 similar proteins: A0A3Q7JC00, A0JM64, A0JNC2, A2VE44, A4IHD9, B2C6R6, B5DE09, B8BCZ8, E7F1H9, F4JT98, O09000, O57539, P78364, Q0WVM7, Q15596, Q17BA4, Q2NLB0, Q3TCX3, Q5RDA3, Q5TP13, Q5ZL54, Q61026, Q64028, Q6GP15, Q6K271, Q6NS15, Q6PEH8, Q71SY5, Q7XYY2, Q7ZVN7, Q80TM6, Q8C7E9, Q8CHY6, Q8HXM1, Q8IZL2, Q8VCB2, Q8W234, Q90WJ3, Q924H2, Q940A7

Diamond homologs: Q6T264, Q8IZL2, Q92585, Q96JK9

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
RBPJ	up-regulates	MAML3	binding
MAML3	up-regulates	NOTCH	binding
NOTCH	up-regulates	MAML3	binding
MAML3	up-regulates	NOTCH2	binding
MAML3	up-regulates	NOTCH3	binding
MAML3	up-regulates	NOTCH4	binding
NOTCH4	up-regulates	MAML3	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3427 predictions. Top by Δscore:

Variant	Effect	Δscore
4:139725833:CTG:C	acceptor_gain	1.0000
4:139753731:AG:A	donor_gain	1.0000
4:139753731:AGCC:A	donor_gain	1.0000
4:139753732:G:C	donor_gain	1.0000
4:139889352:CTTA:C	donor_loss	1.0000
4:139889353:TTA:T	donor_loss	1.0000
4:139889354:TA:T	donor_loss	1.0000
4:139889355:ACC:A	donor_loss	1.0000
4:139890963:TGTAG:T	acceptor_gain	1.0000
4:139890964:GTAG:G	acceptor_gain	1.0000
4:139890965:TAG:T	acceptor_gain	1.0000
4:139890966:AG:A	acceptor_gain	1.0000
4:139890967:GC:G	acceptor_loss	1.0000
4:139890968:C:CC	acceptor_gain	1.0000
4:139890969:T:A	acceptor_loss	1.0000
4:140062094:AGGAG:A	donor_gain	1.0000
4:139725745:CCTCA:C	donor_loss	0.9900
4:139725746:CTCA:C	donor_loss	0.9900
4:139725747:T:TA	donor_loss	0.9900
4:139725748:CA:C	donor_loss	0.9900
4:139725749:A:AA	donor_loss	0.9900
4:139725750:C:A	donor_loss	0.9900
4:139725832:ACTGC:A	acceptor_gain	0.9900
4:139725833:CTGCT:C	acceptor_gain	0.9900
4:139725834:TG:T	acceptor_gain	0.9900
4:139725836:C:CC	acceptor_gain	0.9900
4:139730410:TGTTA:T	donor_loss	0.9900
4:139730411:GTTAC:G	donor_loss	0.9900
4:139730412:TTACC:T	donor_loss	0.9900
4:139730413:TA:T	donor_loss	0.9900

AlphaMissense

7554 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:139890453:A:G	L328P	1.000
4:139890477:A:T	V320D	1.000
4:139890489:A:G	L316S	1.000
4:139890501:A:G	L312S	1.000
4:139890509:C:A	W309C	1.000
4:139890509:C:G	W309C	1.000
4:139890511:A:G	W309R	1.000
4:139890511:A:T	W309R	1.000
4:139890525:A:G	L304P	1.000
4:139890525:A:T	L304Q	1.000
4:140153066:G:C	H88D	1.000
4:140153074:C:G	R85P	1.000
4:140153075:G:T	R85S	1.000
4:140153086:A:C	I81S	1.000
4:140153086:A:T	I81N	1.000
4:140153089:C:G	R80P	1.000
4:140153090:G:T	R80S	1.000
4:140153095:C:G	R78P	1.000
4:140153096:G:T	R78S	1.000
4:140153098:A:C	L77R	1.000
4:140153098:A:G	L77P	1.000
4:140153098:A:T	L77H	1.000
4:140153101:C:G	R76P	1.000
4:139890450:A:G	F329S	0.999
4:139890453:A:T	L328Q	0.999
4:139890510:C:G	W309S	0.999
4:139890513:T:A	E308V	0.999
4:139890513:T:C	E308G	0.999
4:139890514:C:T	E308K	0.999
4:139890525:A:C	L304R	0.999

dbSNP variants (sampled 300 via entrez): RS1000002789 (4:139761106 G>A), RS1000011223 (4:140027305 T>G), RS1000013561 (4:139852413 T>A,G), RS1000015368 (4:140071897 G>C), RS1000017332 (4:139983967 A>G), RS1000034610 (4:139808104 TGGAGA>T), RS1000035344 (4:139760724 T>C), RS10000454 (4:140106038 T>A,C), RS10000502 (4:139943603 G>C,T), RS1000050834 (4:139716498 C>T), RS10000616 (4:140011161 T>A,C), RS1000062774 (4:139897052 G>A), RS1000067640 (4:139945318 T>G), RS1000069502 (4:139984368 T>A), RS1000073769 (4:139939923 C>A,T)

Disease associations

OMIM: gene MIM:608991 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST002036_2	Congenital heart malformation	5.000000e-12
GCST002613_2	Chronic mucus hypersecretion	8.000000e-06
GCST004641_17	Borderline personality disorder	6.000000e-06
GCST005316_616	Intelligence (MTAG)	6.000000e-09
GCST005316_617	Intelligence (MTAG)	1.000000e-09
GCST006665_2	Social science traits (pleiotropy) (HIPO component 1)	8.000000e-09
GCST007934_6	Medication use (anti-inflammatory and antirheumatic products, non-steroids)	1.000000e-08
GCST008512_11	Multisite chronic pain	4.000000e-08
GCST008595_151	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	5.000000e-14
GCST008832_22	Gastroesophageal reflux disease	2.000000e-10
GCST009524_209	Household income (MTAG)	7.000000e-09
GCST009524_261	Household income (MTAG)	4.000000e-11
GCST009524_283	Household income (MTAG)	4.000000e-09
GCST009524_86	Household income (MTAG)	2.000000e-08
GCST010725_3	Malaria	3.000000e-06
GCST010725_4	Malaria	4.000000e-10
GCST010725_58	Malaria	9.000000e-07
GCST010725_63	Malaria	1.000000e-06
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST010988_79	Adult body size	1.000000e-12
GCST011122_54	Walking pace	6.000000e-11
GCST011358_3	Academic attainment (English)	5.000000e-06
GCST011703_67	Smoking initiation	1.000000e-09
GCST90000047_94	Age at first sexual intercourse	1.000000e-13
GCST90000050_31	Age at first birth	3.000000e-12

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0005673	chronic mucus hypersecretion
EFO:0004337	intelligence
EFO:0007006	depressive symptom measurement
EFO:0007660	neuroticism measurement
EFO:0007869	wellbeing measurement
EFO:0009935	Non-steroidal anti-inflammatory and antirheumatic product use measurement
EFO:0010100	multisite chronic pain
EFO:0004784	self reported educational attainment
EFO:0009695	household income
EFO:0011015	educational attainment
EFO:0005670	smoking initiation
EFO:0009749	age at first sexual intercourse measurement
EFO:0009101	age at first birth measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11100483	MAML3		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
Nickel	decreases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects methylation, affects cotreatment	1
titanium dioxide	decreases methylation	1
trichostatin A	increases expression	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	affects methylation	1
ferrous chloride	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
enzalutamide	affects expression	1
bisphenol S	decreases methylation	1
Fulvestrant	affects cotreatment, affects methylation, increases methylation	1
Acetaminophen	decreases expression	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Lead	affects methylation	1
Methapyrilene	affects methylation	1
Methyl Methanesulfonate	increases expression	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression	1
Mifepristone	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.