APBA3

Summary

APBA3 (amyloid beta precursor protein binding family A member 3, HGNC:580) is a protein-coding gene on chromosome 19p13.3, encoding Amyloid-beta A4 precursor protein-binding family A member 3 (O96018). May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.

The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer’s disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer’s disease.

Source: NCBI Gene 9546 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 167 total — 1 pathogenic
• MANE Select transcript: NM_004886

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:580
Approved symbol	APBA3
Name	amyloid beta precursor protein binding family A member 3
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	X11L2, mint3
Ensembl gene	ENSG00000011132
Ensembl biotype	protein_coding
OMIM	604262
Entrez	9546

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 13 protein_coding, 7 retained_intron

ENST00000316757, ENST00000586991, ENST00000588984, ENST00000589934, ENST00000590064, ENST00000590238, ENST00000591678, ENST00000592826, ENST00000861570, ENST00000861571, ENST00000861572, ENST00000861573, ENST00000861574, ENST00000931433, ENST00000931434, ENST00000931435, ENST00000931436, ENST00000931437, ENST00000931438, ENST00000931439

RefSeq mRNA: 1 — MANE Select: NM_004886 NM_004886

CCDS: CCDS12110

Canonical transcript exons

ENST00000316757 — 11 exons

Exon	Start	End
ENSE00000664312	3759561	3759600
ENSE00001056327	3761536	3761692
ENSE00001275815	3759689	3760301
ENSE00002862229	3750772	3751097
ENSE00003469735	3751434	3751553
ENSE00003471249	3752820	3752990
ENSE00003511938	3751189	3751329
ENSE00003540747	3752508	3752720
ENSE00003631827	3754195	3754340
ENSE00003678319	3754019	3754105
ENSE00003690993	3753765	3753926

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 94.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5794 / max 61.9583, expressed in 1781 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178330	4.1591	1615
178332	2.9133	1471
178331	1.5070	1049

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	94.56	gold quality
granulocyte	CL:0000094	91.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.37	gold quality
right ovary	UBERON:0002118	88.58	gold quality
cerebellar hemisphere	UBERON:0002245	88.58	gold quality
cerebellar cortex	UBERON:0002129	88.34	gold quality
left ovary	UBERON:0002119	88.18	gold quality
lower esophagus mucosa	UBERON:0035834	88.01	gold quality
blood	UBERON:0000178	87.60	gold quality
spleen	UBERON:0002106	87.45	gold quality
cartilage tissue	UBERON:0002418	87.24	gold quality
cerebellum	UBERON:0002037	86.80	gold quality
lymph node	UBERON:0000029	86.66	gold quality
gastrocnemius	UBERON:0001388	86.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.41	gold quality
right lobe of thyroid gland	UBERON:0001119	86.21	gold quality
muscle of leg	UBERON:0001383	85.81	gold quality
pituitary gland	UBERON:0000007	85.79	gold quality
apex of heart	UBERON:0002098	85.75	gold quality
endocervix	UBERON:0000458	85.74	gold quality
right coronary artery	UBERON:0001625	85.65	gold quality
left lobe of thyroid gland	UBERON:0001120	85.58	gold quality
body of uterus	UBERON:0009853	85.45	gold quality
body of stomach	UBERON:0001161	85.39	gold quality
right lobe of liver	UBERON:0001114	85.35	gold quality
adenohypophysis	UBERON:0002196	85.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.26	gold quality
mucosa of transverse colon	UBERON:0004991	85.20	gold quality
fundus of stomach	UBERON:0001160	85.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	36.95
E-ANND-3	no	2.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting APBA3, 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-4283	100.00	66.42	2097
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-4485-5P	95.91	59.69	198
HSA-MIR-6784-5P	84.56	60.91	126

Literature-anchored findings (GeneRIF, showing 15)

• Associated with etilogical mechanism of Alzheimer’s disease. (PMID:11831025)
• Mint-3 regulates the retrieval of the internalized membrane-type matrix metalloproteinase, MT5-MMP, to the plasma membrane by binding to its carboxyl end motif EWV (PMID:14990567)
• We have examined the ability of Bcr to interact with other epithelial PDZ proteins and found specific binding to both the apical PDZK1 protein and the Golgi-localized Mint3 (PMID:15494376)
• These data implicate Mint3 activity as a critical determinant of post-Golgi APP traffic. (PMID:17959829)
• the interaction between the PTB domain of Mint3 and the acidic peptide signal of Furin regulates the specific localization of Furin in the trans-Golgi network (PMID:18544638)
• Mint3 regulates the FIH-1-HIF-1 pathway, which controls ATP production in macrophages (PMID:19726677)
• Two transcriptional coactivators, TAZ and YAP, functionally associate with amyloid precursor protein through Mint3 and form transcriptionally active triple protein complexes. (PMID:20016085)
• These results indicate that all three amyloid beta protein precursor family members are capable of activating gene transcription via Mint3-Taz and Mint3-Yap. (PMID:21178287)
• Strict specificity for recruitment of the Mint3 adaptor by APP at the Golgi, a critical role for Tyr-682 (within the YENPTY motif) in Mint3 recruitment and export of APP from the Golgi, are demonstrated. (PMID:23965993)
• Mints are necessary for activity-induced APP and PS1 trafficking and provide insight into the cellular fate of APP in endocytic pathways essential for Abeta production. (PMID:24742670)
• FIH-1-Mint3 axis does not control HIF-1 transcriptional activity in nucleus pulposus cells. (PMID:24867948)
• Results suggest that NECAB3, a novel Mint3-binding protein, activates HIF-1 to promote normoxic glycolysis and tumorigenicity by forming a ternary complex with Mint3 and FIH-1. (PMID:26948053)
• Mint3 depletion restricts tumor malignancy of pancreatic cancer cells by decreasing SKP2 expression via HIF-1. (PMID:32826949)
• Structural and thermodynamical insights into the binding and inhibition of FIH-1 by the N-terminal disordered region of Mint3. (PMID:34655613)
• Mint3-depletion-induced energy stress sensitizes triple-negative breast cancer to chemotherapy via HSF1 inactivation. (PMID:38081808)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	APBA3	ENSDARG00000090675
mus_musculus	Apba3	ENSMUSG00000004931
rattus_norvegicus	Apba3	ENSRNOG00000020466
drosophila_melanogaster	X11Lbeta	FBGN0052677
caenorhabditis_elegans	lin-10	WBGENE00002999

Paralogs (4): APBA2 (ENSG00000034053), APBA1 (ENSG00000107282), SDCBP2 (ENSG00000125775), SDCBP (ENSG00000137575)

Protein

Protein identifiers

Amyloid-beta A4 precursor protein-binding family A member 3 — O96018 (reviewed: O96018)

Alternative names: Adapter protein X11gamma, Neuron-specific X11L2 protein, Neuronal Munc18-1-interacting protein 3

All UniProt accessions (1): O96018

UniProt curated annotations — full annotation on UniProt →

Function. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.

Subunit / interactions. Binds to the cytoplasmic domain of amyloid protein (APP) in vivo. Interacts with HIF1AN (via N-terminus). Interacts with NECAB3; seems to mediate the interaction between NECAB3 and HIF1AN.

Subcellular location. Cytoplasm. Perinuclear region.

Tissue specificity. Expressed in all tissues examined with lower levels in brain and testis.

Domain organisation. Composed of an N-terminal domain, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.

RefSeq proteins (1): NP_004877* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR051230	APP-Binding	Family

Pfam: PF00595, PF00640

UniProt features (38 total): strand 12, helix 6, modified residue 4, sequence variant 4, domain 3, region of interest 3, compositionally biased region 3, chain 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5UWS	X-RAY DIFFRACTION	2.4
2YT7	SOLUTION NMR
2YT8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O96018-F1	64.79	0.14

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 (4): 1, 11, 171, 372

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6794361	Neurexins and neuroligins
R-HSA-112316	Neuronal System
R-HSA-6794362	Protein-protein interactions at synapses

MSigDB gene sets: 139 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, KYNG_DNA_DAMAGE_DN, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_ELK3_ONLY_UP, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_SYNAPTIC_SIGNALING, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, ELK1_01, GOCC_NEURON_PROJECTION

GO Biological Process (5): in utero embryonic development (GO:0001701), chemical synaptic transmission (GO:0007268), regulation of gene expression (GO:0010468), protein transport (GO:0015031), negative regulation of catalytic activity (GO:0043086)

GO Molecular Function (4): amyloid-beta binding (GO:0001540), enzyme inhibitor activity (GO:0004857), enzyme binding (GO:0019899), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), plasma membrane (GO:0005886), dendritic spine (GO:0043197), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Protein-protein interactions at synapses	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	2
cellular anatomical structure	2
chordate embryonic development	1
anterograde trans-synaptic signaling	1
gene expression	1
regulation of macromolecule biosynthetic process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
negative regulation of molecular function	1
regulation of catalytic activity	1
peptide binding	1
enzyme regulator activity	1
molecular function inhibitor activity	1
protein binding	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
dendrite	1
neuron spine	1
postsynapse	1
cytoplasm	1

Protein interactions and networks

STRING

740 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APBA3	APP	P05067	892
APBA3	XPNPEP2	O43895	766
APBA3	STXBP1	P61764	729
APBA3	HIF1AN	Q9NWT6	477
APBA3	MMP24	Q9Y5R2	472
APBA3	KIF17	Q9P2E2	469
APBA3	APBB1	O00213	469
APBA3	STRAP	Q9Y3F4	466
APBA3	APBB3	O95704	463
APBA3	APLP1	P51693	457
APBA3	CCDC134	Q9H6E4	453
APBA3	NINJ2	Q9NZG7	444
APBA3	MCF2	P10911	428
APBA3	NECAB3	Q96P71	400
APBA3	FURIN	P09958	389

IntAct

520 interactions, top by confidence:

A	B	Type	Score
HIF1AN	APBA3	psi-mi:“MI:0915”(physical association)	0.850
HIF1AN	APBA3	psi-mi:“MI:0914”(association)	0.850
APBA3	HIF1AN	psi-mi:“MI:0915”(physical association)	0.850
APBA3	APP	psi-mi:“MI:0915”(physical association)	0.740
RAPGEF6	APBA3	psi-mi:“MI:0407”(direct interaction)	0.690
APBA3	APLP2	psi-mi:“MI:0915”(physical association)	0.660
HIF1AN	GMDS	psi-mi:“MI:0914”(association)	0.640
CDA	LIN7A	psi-mi:“MI:0914”(association)	0.640
CCNA2	GMNN	psi-mi:“MI:0914”(association)	0.640
APBA3	NECAB3	psi-mi:“MI:0915”(physical association)	0.630
APBA3	NECAB3	psi-mi:“MI:0915”(physical association)	0.600
APBA3	NECAB3	psi-mi:“MI:0403”(colocalization)	0.600
APBA3	MAP2K2	psi-mi:“MI:0407”(direct interaction)	0.590
APBA3	CREBBP	psi-mi:“MI:0915”(physical association)	0.540
APBA3	CREBBP	psi-mi:“MI:0407”(direct interaction)	0.540
APBA3	DUSP11	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
SLC22A16	APBA3	psi-mi:“MI:0914”(association)	0.530
APBA3	CLSTN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (102): UBB (Affinity Capture-MS), TBK1 (Affinity Capture-MS), APBA3 (Affinity Capture-MS), APBA3 (Affinity Capture-MS), APBA3 (Affinity Capture-MS), NFX1 (Affinity Capture-MS), SCAI (Affinity Capture-MS), ACSM1 (Affinity Capture-MS), AZI2 (Affinity Capture-MS), NECAB3 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), SCAF11 (Affinity Capture-MS), PKP4 (Affinity Capture-MS), IL13RA1 (Affinity Capture-MS), PDHA2 (Affinity Capture-MS)

ESM2 similar proteins: A3R064, A7E3N7, D3ZBP4, E9Q6X9, F1MH07, G3V8H4, O70248, O88888, O95382, O96018, P97465, Q0VBL6, Q13470, Q3KR16, Q3MIN7, Q3UYI5, Q3V3V9, Q4QQV2, Q58EX7, Q5EA84, Q5VV41, Q6F5E8, Q6P5Z2, Q6PGG2, Q80XL1, Q86UT5, Q8BWA8, Q8CJ00, Q8IW93, Q8K031, Q8K045, Q8R5F8, Q8TDZ2, Q8TE67, Q8VDP3, Q924T7, Q92502, Q92918, Q969H4, Q99704

Diamond homologs: B2RUJ5, O17583, O19132, O35430, O35431, O55164, O70248, O88382, O88888, O96018, P29475, P98084, Q02410, Q29498, Q4KLN0, Q5RD33, Q86UL8, Q8VBX6, Q99767, Q9WVQ1, O88952, Q0P5F3, Q5F425, Q5RAA5, Q792I0, Q9NUP9, A0A0A2J1Z6, A0A100IM63, A0A140LI67, A0A2U1KZS6, A0A2U1LIM9, A1JJS2, A7MJ63, A8G9X6, B1B557, C5YJG8, G5ECY0, O15018, O19114, O34453

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
APBA3	“up-regulates activity”	STXBP1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 163 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
RHOQ GTPase cycle	7	11.9×	3e-04
Neurexins and neuroligins	6	11.0×	2e-03
Cell death signalling via NRAGE, NRIF and NADE	5	10.3×	6e-03
RHOJ GTPase cycle	5	9.4×	9e-03
RHOB GTPase cycle	6	8.7×	4e-03
CDC42 GTPase cycle	11	7.4×	8e-05
RHOA GTPase cycle	10	7.0×	3e-04
RHO GTPase cycle	12	6.7×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
transport across blood-brain barrier	9	10.9×	2e-04
protein-containing complex assembly	9	6.9×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	148
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	Pathogenic

SpliceAI

1845 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3751325:CAGAT:C	acceptor_gain	1.0000
19:3751326:AGAT:A	acceptor_gain	1.0000
19:3751327:GAT:G	acceptor_gain	1.0000
19:3751328:AT:A	acceptor_gain	1.0000
19:3751330:C:CC	acceptor_gain	1.0000
19:3751432:A:AC	donor_gain	1.0000
19:3751433:C:CA	donor_gain	1.0000
19:3751433:CGATG:C	donor_gain	1.0000
19:3751460:G:C	donor_gain	1.0000
19:3751550:TCTCC:T	acceptor_loss	1.0000
19:3751551:CTC:C	acceptor_gain	1.0000
19:3751552:TCC:T	acceptor_loss	1.0000
19:3752506:A:AC	donor_gain	1.0000
19:3752507:C:CC	donor_gain	1.0000
19:3752507:CG:C	donor_gain	1.0000
19:3752818:ACCTC:A	donor_gain	1.0000
19:3752819:CCTCC:C	donor_gain	1.0000
19:3753751:C:CA	donor_gain	1.0000
19:3753763:A:AC	donor_gain	1.0000
19:3753764:C:CC	donor_gain	1.0000
19:3753764:CGT:C	donor_gain	1.0000
19:3753767:C:A	donor_gain	1.0000
19:3754015:GTAC:G	donor_loss	1.0000
19:3754016:TA:T	donor_loss	1.0000
19:3754189:CCTCA:C	donor_loss	1.0000
19:3754190:CTCAC:C	donor_loss	1.0000
19:3754191:TCAC:T	donor_loss	1.0000
19:3754192:CACC:C	donor_loss	1.0000
19:3754193:A:T	donor_loss	1.0000
19:3754194:C:A	donor_loss	1.0000

AlphaMissense

3716 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3751271:C:G	R525P	0.999
19:3751268:A:C	I526S	0.998
19:3751268:A:G	I526T	0.998
19:3751453:A:G	F499S	0.998
19:3752581:C:T	G441E	0.998
19:3751268:A:T	I526N	0.997
19:3751452:G:C	F499L	0.997
19:3751452:G:T	F499L	0.997
19:3751454:A:G	F499L	0.997
19:3752567:C:G	A446P	0.997
19:3752581:C:A	G441V	0.997
19:3752608:G:T	A432D	0.997
19:3754057:A:G	S271P	0.997
19:3754059:A:T	V270D	0.997
19:3751067:A:C	Y563D	0.996
19:3751301:G:T	A515D	0.996
19:3751328:A:T	I506N	0.996
19:3751501:A:T	V483D	0.996
19:3752590:A:T	L438H	0.996
19:3752632:G:T	A424D	0.996
19:3752550:G:C	S451R	0.995
19:3752550:G:T	S451R	0.995
19:3752552:T:G	S451R	0.995
19:3752578:T:A	D442V	0.995
19:3752635:A:T	I423N	0.995
19:3753778:A:G	F333S	0.995
19:3754277:C:T	G227E	0.995
19:3751265:A:T	I527N	0.994
19:3751319:A:G	L509P	0.994
19:3751525:A:G	L475P	0.994

dbSNP variants (sampled 300 via entrez): RS1000134597 (19:3754153 C>T), RS1000593399 (19:3756613 C>T), RS1000868488 (19:3758457 G>A), RS1001249521 (19:3753389 T>C), RS1001301924 (19:3753642 T>C), RS1001388003 (19:3758253 A>G), RS1001534218 (19:3756664 G>A), RS1001657406 (19:3761753 CG>C), RS1001662312 (19:3760526 G>T), RS1001996028 (19:3761784 G>A,C,T), RS1002274669 (19:3757639 G>A), RS1002415769 (19:3753091 G>C), RS1002478173 (19:3750942 G>A,C), RS1002488484 (19:3755634 C>G), RS1002602815 (19:3755379 A>G)

Disease associations

OMIM: gene MIM:604262 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): RASopathy (MONDO:0021060)

Orphanet (1): RASopathy (Orphanet:536391)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90011900_163	Serum alkaline phosphatase levels	6.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
abrine	increases expression	1
jinfukang	increases expression	1
MT19c compound	decreases expression	1
Decitabine	affects expression	1
Zoledronic Acid	decreases expression	1
Atrazine	increases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Folic Acid	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phenobarbital	affects expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04888936	Not specified	RECRUITING	Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
NCT05761314	Not specified	RECRUITING	Solid Tumors in RASopathies
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