EFR3B

Summary

EFR3B (EFR3 homolog B, HGNC:29155) is a protein-coding gene on chromosome 2p23.3, encoding Protein EFR3 homolog B (Q9Y2G0). Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane.

Source: NCBI Gene 22979 — RefSeq curated summary.

At a glance

• GWAS associations: 31
• Clinical variants (ClinVar): 80 total — 1 pathogenic
• MANE Select transcript: NM_014971

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29155
Approved symbol	EFR3B
Name	EFR3 homolog B
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37871
Ensembl gene	ENSG00000084710
Ensembl biotype	protein_coding
OMIM	616797
Entrez	22979

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000264719, ENST00000401432, ENST00000402191, ENST00000403714, ENST00000405108, ENST00000858649, ENST00000858650

RefSeq mRNA: 2 — MANE Select: NM_014971 NM_001319099, NM_014971

CCDS: CCDS46231, CCDS82425

Canonical transcript exons

ENST00000403714 — 23 exons

Exon	Start	End
ENSE00000727075	25128183	25128332
ENSE00000727093	25141366	25141433
ENSE00000727100	25139059	25139190
ENSE00000727109	25137341	25137502
ENSE00000727117	25136523	25136598
ENSE00000727138	25133383	25133434
ENSE00000727145	25132903	25133014
ENSE00000727152	25131750	25131911
ENSE00000727166	25130552	25130630
ENSE00000727172	25129975	25130109
ENSE00000808911	25131368	25131503
ENSE00000932318	25143735	25143862
ENSE00000962940	25135467	25135639
ENSE00001331417	25153712	25153761
ENSE00001331420	25151914	25152020
ENSE00001331421	25149694	25149742
ENSE00001331449	25144960	25145051
ENSE00001645904	25103637	25103787
ENSE00002616784	25154235	25159135
ENSE00003479743	25091325	25091401
ENSE00003568462	25121673	25121794
ENSE00003596106	25093003	25093130
ENSE00003844750	25042076	25042319

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 96.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5032 / max 217.0966, expressed in 939 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19206	5.2797	738
19209	1.2505	473
19210	1.0543	450
19207	0.6604	336
19208	0.1322	72
19205	0.1261	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	96.35	gold quality
superior vestibular nucleus	UBERON:0007227	95.00	gold quality
pigmented layer of retina	UBERON:0001782	94.51	gold quality
retina	UBERON:0000966	94.49	gold quality
cortical plate	UBERON:0005343	91.53	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.46	gold quality
middle temporal gyrus	UBERON:0002771	91.13	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.75	gold quality
entorhinal cortex	UBERON:0002728	90.58	gold quality
caudate nucleus	UBERON:0001873	90.37	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.24	gold quality
substantia nigra pars compacta	UBERON:0001965	90.13	gold quality
putamen	UBERON:0001874	90.02	gold quality
subthalamic nucleus	UBERON:0001906	89.40	gold quality
ventral tegmental area	UBERON:0002691	89.38	gold quality
nucleus accumbens	UBERON:0001882	89.25	gold quality
parietal lobe	UBERON:0001872	88.99	gold quality
superior frontal gyrus	UBERON:0002661	88.76	gold quality
postcentral gyrus	UBERON:0002581	88.70	gold quality
medial globus pallidus	UBERON:0002477	88.55	gold quality
inferior vagus X ganglion	UBERON:0005363	88.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.43	gold quality
cerebellar cortex	UBERON:0002129	88.18	gold quality
cerebellar hemisphere	UBERON:0002245	88.15	gold quality
temporal lobe	UBERON:0001871	88.02	gold quality
right frontal lobe	UBERON:0002810	88.02	gold quality
globus pallidus	UBERON:0001875	88.00	gold quality
cerebellum	UBERON:0002037	87.63	gold quality
telencephalon	UBERON:0001893	87.60	gold quality
Ammon’s horn	UBERON:0001954	87.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	no	2.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

195 targeting EFR3B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-8067	99.86	69.59	2260

Literature-anchored findings (GeneRIF, showing 1)

• These data suggest that mammalian Efr3s contribute to the control of the phosphorylation state and, hence, desensitization of AT1a receptors, and could affect responsiveness of G-protein-coupled receptors in higher eukaryotes. (PMID:25380825)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	efr3ba	ENSDARG00000033516
danio_rerio	efr3bb	ENSDARG00000069318
mus_musculus	Efr3b	ENSMUSG00000020658
rattus_norvegicus	Efr3b	ENSRNOG00000012950
drosophila_melanogaster	stmA	FBGN0086784
caenorhabditis_elegans		WBGENE00016311

Paralogs (1): EFR3A (ENSG00000132294)

Protein

Protein identifiers

Protein EFR3 homolog B — Q9Y2G0 (reviewed: Q9Y2G0)

All UniProt accessions (3): Q9Y2G0, E7ESK9, H7BXG9

UniProt curated annotations — full annotation on UniProt →

Function. Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, EFR3B probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect.

Subunit / interactions. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2).

Subcellular location. Cell membrane. Cytoplasm. Cytosol.

Post-translational modifications. Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane.

Similarity. Belongs to the EFR3 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y2G0-1	1	yes
Q9Y2G0-2	2
Q9Y2G0-3	3

RefSeq proteins (2): NP_001306028, NP_055786* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR049152	EFR3-like_ARM	Repeat
IPR051851	EFR3_Homologs	Family

Pfam: PF21052

UniProt features (7 total): modified residue 3, splice variant 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2G0-F1	82.08	0.51

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 (3): 212, 214, 216

Mutagenesis-validated functional residues (1):

Position	Phenotype
5–8	induces localization to the cytosol.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_BEHAVIOR, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTRASPECIES_INTERACTION_BETWEEN_ORGANISMS, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LOCALIZATION_WITHIN_MEMBRANE

GO Biological Process (4): transmission of nerve impulse (GO:0019226), social behavior (GO:0035176), phosphatidylinositol phosphate biosynthetic process (GO:0046854), protein localization to plasma membrane (GO:0072659)

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

GO Cellular Component (5): cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
action potential	1
cell communication	1
chemical synaptic transmission	1
nervous system process	1
behavior	1
biological process involved in intraspecies interaction between organisms	1
glycerophospholipid biosynthetic process	1
protein localization to membrane	1
protein localization to cell periphery	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
cytoskeleton	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

814 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EFR3B	TTC7B	Q86TV6	875
EFR3B	TTC7A	Q9ULT0	768
EFR3B	PI4KA	P42356	713
EFR3B	HYCC1	Q9BYI3	703
EFR3B	TMEM150A	Q86TG1	636
EFR3B	HYCC2	Q8IXS8	588
EFR3B	PI4KB	P78405	488
EFR3B	KATNAL2	Q8IYT4	433
EFR3B	RHEX	Q6ZWK4	431
EFR3B	GRAMD1C	Q8IYS0	421
EFR3B	NUGGC	Q68CJ6	420
EFR3B	TMEM205	Q6UW68	412
EFR3B	WDR17	Q8IZU2	395
EFR3B	WDR27	A2RRH5	380
EFR3B	MSLNL	Q96KJ4	378

IntAct

20 interactions, top by confidence:

A	B	Type	Score
KCNJ2	KCNJ18	psi-mi:“MI:2364”(proximity)	0.660
RNASE3	GGPS1	psi-mi:“MI:0914”(association)	0.640
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
FCAR	EFR3B	psi-mi:“MI:0915”(physical association)	0.400
PI4KA	EFR3A	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
CENPM	DNM1L	psi-mi:“MI:0914”(association)	0.350
MATCAP2	PRKAR2B	psi-mi:“MI:0914”(association)	0.350
SLC22A11	CNOT1	psi-mi:“MI:0914”(association)	0.350
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CTDSPL	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
EPHA2	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
FGFR1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
FGFR4	SH3PXD2B	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (90): EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Proximity Label-MS), EFR3B (Proximity Label-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Affinity Capture-MS), EFR3B (Proximity Label-MS), EFR3B (Proximity Label-MS), EFR3B (Synthetic Lethality)

ESM2 similar proteins: A0A571BF63, A0A5F8MPE6, A1A535, A8QHQ0, B0W730, O23463, O46470, O54829, O64851, O82645, P49758, P49802, P49803, P49809, Q058N0, Q0VA04, Q14D04, Q28IH8, Q4R6I5, Q4R7Z7, Q502W7, Q569B9, Q5PQS3, Q5SPP5, Q5XG48, Q5XIR8, Q641A2, Q6ZQ18, Q7T0S7, Q86VD1, Q8BG67, Q8BMD7, Q8CDN8, Q8H1E8, Q8IGJ0, Q8N957, Q8NCR3, Q8NHS4, Q96L03, Q96LI9

Diamond homologs: Q09263, Q14156, Q5SPP5, Q620W3, Q641A2, Q6ZQ18, Q8BG67, Q8IGJ0, Q9Y2G0, Q6C8F7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EFR3B	“up-regulates quantity”	PI4KA	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	72
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3247406	NC_000002.11:g.(?24443763)(25536853_?)del	Pathogenic

SpliceAI

3959 predictions. Top by Δscore:

Variant	Effect	Δscore
2:25042315:GTACG:G	donor_gain	1.0000
2:25092997:CTACA:C	acceptor_loss	1.0000
2:25092998:TACAG:T	acceptor_loss	1.0000
2:25093000:CAGG:C	acceptor_loss	1.0000
2:25093001:AG:A	acceptor_gain	1.0000
2:25093001:AGGAT:A	acceptor_gain	1.0000
2:25093002:G:A	acceptor_loss	1.0000
2:25093002:GG:G	acceptor_gain	1.0000
2:25093002:GGAT:G	acceptor_gain	1.0000
2:25093002:GGATG:G	acceptor_gain	1.0000
2:25093126:TATGG:T	donor_gain	1.0000
2:25093127:ATGG:A	donor_gain	1.0000
2:25093128:TGG:T	donor_gain	1.0000
2:25093129:GG:G	donor_gain	1.0000
2:25093129:GGG:G	donor_gain	1.0000
2:25093129:GGGTA:G	donor_loss	1.0000
2:25093130:GG:G	donor_gain	1.0000
2:25093131:G:GG	donor_gain	1.0000
2:25093131:GT:G	donor_loss	1.0000
2:25093132:T:A	donor_loss	1.0000
2:25103636:GGTAC:G	acceptor_gain	1.0000
2:25103783:ACTCG:A	donor_gain	1.0000
2:25103785:TCG:T	donor_gain	1.0000
2:25103785:TCGG:T	donor_loss	1.0000
2:25103786:CG:C	donor_gain	1.0000
2:25103787:GG:G	donor_gain	1.0000
2:25103788:G:GG	donor_gain	1.0000
2:25103789:T:G	donor_loss	1.0000
2:25121667:T:TA	acceptor_gain	1.0000
2:25121669:ATAGT:A	acceptor_loss	1.0000

AlphaMissense

5378 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:25091358:G:T	R14M	1.000
2:25091360:T:G	Y15D	1.000
2:25091365:A:C	K16N	1.000
2:25091365:A:T	K16N	1.000
2:25091370:T:C	L18P	1.000
2:25091373:T:A	V19D	1.000
2:25091382:T:A	I22N	1.000
2:25091384:T:C	F23L	1.000
2:25091385:T:C	F23S	1.000
2:25091386:C:A	F23L	1.000
2:25091386:C:G	F23L	1.000
2:25093034:T:A	L39Q	1.000
2:25093034:T:C	L39P	1.000
2:25093034:T:G	L39R	1.000
2:25093039:T:A	F41I	1.000
2:25093039:T:C	F41L	1.000
2:25093040:T:C	F41S	1.000
2:25093041:C:A	F41L	1.000
2:25093041:C:G	F41L	1.000
2:25093042:T:G	Y42D	1.000
2:25093045:G:C	A43P	1.000
2:25093046:C:A	A43D	1.000
2:25093049:T:C	L44P	1.000
2:25093063:A:G	K49E	1.000
2:25093065:A:C	K49N	1.000
2:25093065:A:T	K49N	1.000
2:25093067:T:A	L50H	1.000
2:25093067:T:C	L50P	1.000
2:25093072:C:A	R52S	1.000
2:25093073:G:C	R52P	1.000

dbSNP variants (sampled 300 via entrez): RS1000016955 (2:25104124 G>A), RS1000026291 (2:25093080 C>G,T), RS1000029553 (2:25148754 C>A,G,T), RS1000068924 (2:25127404 T>C), RS1000090370 (2:25134283 G>C), RS1000098010 (2:25150500 T>G), RS1000132354 (2:25119407 G>A), RS1000232932 (2:25130034 C>G,T), RS1000264932 (2:25140590 G>A), RS1000272034 (2:25129829 AGCT>A), RS1000288287 (2:25073956 C>T), RS1000302477 (2:25111560 A>G), RS1000305167 (2:25045142 C>A,G,T), RS1000315333 (2:25058295 C>T), RS1000322774 (2:25043210 A>C)

Disease associations

OMIM: gene MIM:616797 | disease phenotypes: MIM:615879, MIM:617190

GenCC curated gene-disease

Mondo (2): Tatton-Brown-Rahman overgrowth syndrome (MONDO:0014382), Shashi-Pena syndrome (MONDO:0014963)

Orphanet (2): Tatton-Brown-Rahman syndrome (Orphanet:404443), Shashi-Pena syndrome (Orphanet:689408)

HPO phenotypes

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

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST001255_1	Type 1 diabetes	4.000000e-09
GCST001935_6	Body mass index in non-asthmatics	3.000000e-06
GCST004131_107	Inflammatory bowel disease	3.000000e-07
GCST004132_38	Crohn’s disease	9.000000e-08
GCST005950_4	Body mass index x sex x age interaction (4df test)	5.000000e-26
GCST005951_195	Body mass index	3.000000e-24
GCST005952_4	Body mass index (age>50)	5.000000e-09
GCST005953_10	Body mass index (age <50)	6.000000e-20
GCST007293_13	Body fat distribution (arm fat ratio)	2.000000e-39
GCST007293_41	Body fat distribution (arm fat ratio)	5.000000e-22
GCST007293_5	Body fat distribution (arm fat ratio)	2.000000e-21
GCST007294_128	Body fat distribution (trunk fat ratio)	7.000000e-06
GCST007294_94	Body fat distribution (trunk fat ratio)	9.000000e-10
GCST008163_518	Height	1.000000e-13
GCST008163_594	Height	3.000000e-06
GCST011494_92	Daytime nap	3.000000e-06
GCST012226_436	Waist circumference adjusted for body mass index	4.000000e-09
GCST90020024_855	A body shape index	1.000000e-08
GCST90020024_856	A body shape index	4.000000e-08
GCST90020024_857	A body shape index	2.000000e-10
GCST90020025_1589	Waist-to-hip ratio adjusted for BMI	2.000000e-10
GCST90020025_1590	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90020027_1598	Waist-hip index	6.000000e-12
GCST90020027_1599	Waist-hip index	7.000000e-10
GCST90020028_430	Hip circumference adjusted for BMI	2.000000e-08
GCST90020028_434	Hip circumference adjusted for BMI	3.000000e-08
GCST90020029_656	Waist circumference adjusted for body mass index	5.000000e-09
GCST90020029_782	Waist circumference adjusted for body mass index	4.000000e-15
GCST90020029_783	Waist circumference adjusted for body mass index	4.000000e-12
GCST90020029_784	Waist circumference adjusted for body mass index	6.000000e-18

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004341	body fat distribution
EFO:0007828	daytime rest measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	6
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	5
Valproic Acid	affects cotreatment, decreases expression, increases expression	4
Estradiol	decreases expression, decreases reaction, affects cotreatment, increases expression	3
Aflatoxin B1	decreases expression, increases methylation	3
sodium arsenite	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	increases expression	2
OTX015	increases expression	1
FR900359	affects phosphorylation	1
mivebresib	increases expression	1
propionaldehyde	increases expression	1
titanium dioxide	decreases expression	1
trichostatin A	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, 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
Decitabine	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03303716	Not specified	RECRUITING	ASXL-Related Disorders Natural History Study