ELL3

Summary

ELL3 (elongation factor for RNA polymerase II 3, HGNC:23113) is a protein-coding gene on chromosome 15q15.3, encoding RNA polymerase II elongation factor ELL3 (Q9HB65). Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification.

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of DNA-templated transcription and transcription by RNA polymerase II. Located in several cellular components, including chromosome; cytosol; and nuclear lumen. Part of transcription elongation factor complex.

Source: NCBI Gene 80237 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_025165

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23113
Approved symbol	ELL3
Name	elongation factor for RNA polymerase II 3
Location	15q15.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22637
Ensembl gene	ENSG00000128886
Ensembl biotype	protein_coding
OMIM	609885
Entrez	80237

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 retained_intron, 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000319359, ENST00000433927, ENST00000467869, ENST00000476335, ENST00000486851, ENST00000497465, ENST00000497530, ENST00000497700

RefSeq mRNA: 1 — MANE Select: NM_025165 NM_025165

CCDS: CCDS10102

Canonical transcript exons

ENST00000319359 — 11 exons

Exon	Start	End
ENSE00001400640	43776770	43776966
ENSE00001935753	43772620	43773226
ENSE00003486559	43774182	43774353
ENSE00003488843	43774596	43774773
ENSE00003501433	43773304	43773348
ENSE00003519713	43775722	43775923
ENSE00003562266	43775306	43775381
ENSE00003576990	43776509	43776544
ENSE00003578721	43776039	43776151
ENSE00003582248	43775525	43775610
ENSE00003631279	43774476	43774518

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 92.41.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5033 / max 121.6469, expressed in 574 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149621	1.5033	574

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	92.41	gold quality
lymph node	UBERON:0000029	89.59	gold quality
zone of skin	UBERON:0000014	89.51	gold quality
skin of abdomen	UBERON:0001416	89.48	gold quality
skin of leg	UBERON:0001511	89.44	gold quality
mucosa of transverse colon	UBERON:0004991	88.24	gold quality
left testis	UBERON:0004533	87.82	gold quality
testis	UBERON:0000473	87.65	gold quality
right testis	UBERON:0004534	87.16	gold quality
rectum	UBERON:0001052	87.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.71	gold quality
lower esophagus mucosa	UBERON:0035834	86.14	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.30	gold quality
vermiform appendix	UBERON:0001154	85.09	gold quality
transverse colon	UBERON:0001157	84.72	gold quality
esophagus mucosa	UBERON:0002469	84.65	gold quality
small intestine	UBERON:0002108	84.31	gold quality
tonsil	UBERON:0002372	83.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.96	gold quality
vagina	UBERON:0000996	81.71	gold quality
cerebellar hemisphere	UBERON:0002245	80.89	gold quality
cerebellar cortex	UBERON:0002129	80.87	gold quality
cerebellum	UBERON:0002037	80.81	gold quality
intestine	UBERON:0000160	80.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.34	gold quality
minor salivary gland	UBERON:0001830	80.33	gold quality
saliva-secreting gland	UBERON:0001044	79.86	gold quality
colon	UBERON:0001155	79.17	gold quality
esophagus	UBERON:0001043	78.59	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	668.25
E-CURD-122	yes	16.18
E-ANND-3	yes	5.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting ELL3, 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-6758-5P	100.00	66.21	1470
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-548M	99.70	68.87	1749
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-4328	99.57	71.06	4094
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-5087	98.01	69.09	965
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-2467-5P	97.36	67.71	991

Literature-anchored findings (GeneRIF, showing 5)

• Ell3 may play a critical role in promoting oncogenesis in breast cancer by regulating cell proliferation and cancer stem cell properties via the ERK1/2 signaling pathway (PMID:23850691)
• Ell3 stabilizes p53 following cisplatin treatment via its effects on ubiquitin-dependent and -independent proteasomal degradation pathways in breast cancer cells. (PMID:26540344)
• Authors demonstrated that ER(alpha), GATA3 and FOXA1 form a transcriptional complex with Ell3 to regulate IL-20 expression in ER(+) breast cancer cells. FOXA1 represses IL-20 expression, whereas GATA3 and ER(alpha) activate it. (PMID:28514748)
• Selective expression of the transcription elongation factor ELL3 in B cells prior to ELL2 drives proliferation and survival (PMID:28858629)
• Suppression of Ell3 expression induced senescence in stem cells by increasing Bcl-2 expression. Unlike the effect of Ell3 suppression, the ectopic expression of Ell3 induces apoptosis of stem cells and induces apoptosis of adjacent cells. (PMID:30654843)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-13k12.2	ENSDARG00000038121
danio_rerio	zgc:154006	ENSDARG00000061797
danio_rerio	marveld2l	ENSDARG00000061800
mus_musculus	Ell3	ENSMUSG00000027246
rattus_norvegicus	Ell3	ENSRNOG00000022868
drosophila_melanogaster	Su(Tpl)	FBGN0014037
caenorhabditis_elegans		WBGENE00021281

Paralogs (5): OCEL1 (ENSG00000099330), ELL (ENSG00000105656), ELL2 (ENSG00000118985), MARVELD2 (ENSG00000152939), OCLN (ENSG00000197822)

Protein

Protein identifiers

RNA polymerase II elongation factor ELL3 — Q9HB65 (reviewed: Q9HB65)

All UniProt accessions (2): C9JHD8, Q9HB65

UniProt curated annotations — full annotation on UniProt →

Function. Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III.

Subunit / interactions. Interacts with AFF4. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2.

Subcellular location. Nucleus.

Tissue specificity. Testis specific.

Similarity. Belongs to the ELL/occludin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HB65-1	1	yes
Q9HB65-2	2

RefSeq proteins (1): NP_079441* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010844	Occludin_ELL	Domain
IPR019464	ELL_N	Domain
IPR031176	ELL/occludin	Family

Pfam: PF07303, PF10390

UniProt features (12 total): compositionally biased region 3, sequence conflict 2, region of interest 2, sequence variant 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HB65-F1	62.88	0.22

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6807505	RNA polymerase II transcribes snRNA genes

MSigDB gene sets: 168 (showing top): GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GCANCTGNY_MYOD_Q6, AREB6_03, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, CTAGGAA_MIR384, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (19): DNA-templated transcription elongation (GO:0006354), transcription by RNA polymerase II (GO:0006366), transcription elongation by RNA polymerase II (GO:0006368), spermatogenesis (GO:0007283), regulation of epithelial to mesenchymal transition (GO:0010717), positive regulation of DNA-templated transcription, elongation (GO:0032786), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771), snRNA transcription by RNA polymerase II (GO:0042795), positive regulation of transcription by RNA polymerase II (GO:0045944), stem cell differentiation (GO:0048863), positive regulation of neurogenesis (GO:0050769), neural precursor cell proliferation (GO:0061351), stem cell proliferation (GO:0072089), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), positive regulation of neural precursor cell proliferation (GO:2000179), positive regulation of stem cell proliferation (GO:2000648), signal transduction by p53 class mediator (GO:0072331), negative regulation of signal transduction by p53 class mediator (GO:1901797)

GO Molecular Function (2): cis-regulatory region sequence-specific DNA binding (GO:0000987), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytosol (GO:0005829), transcription elongation factor complex (GO:0008023), nuclear speck (GO:0016607), cell junction (GO:0030054)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	3
cellular anatomical structure	3
DNA-templated transcription	2
DNA-templated transcription elongation	2
positive regulation of DNA-templated transcription	2
cell population proliferation	2
positive regulation of cell population proliferation	2
nuclear lumen	2
intracellular membraneless organelle	2
RNA biosynthetic process	1
developmental process involved in reproduction	1
male gamete generation	1
epithelial to mesenchymal transition	1
regulation of cell differentiation	1
regulation of DNA-templated transcription elongation	1
transcription elongation by RNA polymerase II	1
positive regulation of DNA-templated transcription, elongation	1
regulation of transcription elongation by RNA polymerase II	1
positive regulation of transcription by RNA polymerase II	1
intrinsic apoptotic signaling pathway in response to DNA damage	1
intrinsic apoptotic signaling pathway by p53 class mediator	1
snRNA transcription	1
regulation of transcription by RNA polymerase II	1
cell differentiation	1
positive regulation of cell development	1
neurogenesis	1
regulation of neurogenesis	1
positive regulation of nervous system development	1
stem cell division	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
neural precursor cell proliferation	1
regulation of neural precursor cell proliferation	1
stem cell proliferation	1
regulation of stem cell proliferation	1
intracellular signal transduction	1
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELL3	AFF1	P51825	928
ELL3	AFF4	Q9UHB7	924
ELL3	MLLT3	P42568	876
ELL3	MLLT1	Q03111	864
ELL3	CDK9	P50750	785
ELL3	CCNT1	O60563	653
ELL3	CCNT2	O60583	636
ELL3	ELL	P55199	613
ELL3	ELL2	O00472	604
ELL3	EAF1	Q96JC9	562
ELL3	MED26	O95402	539
ELL3	SERINC4	A6NH21	451
ELL3	ICE2	Q659A1	425
ELL3	LDB1	Q86U70	419
ELL3	AFF2	P51816	415

IntAct

28 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
EAF1	ELL3	psi-mi:“MI:0915”(physical association)	0.840
AFF4	ELL2	psi-mi:“MI:0914”(association)	0.730
ELL3	ICE2	psi-mi:“MI:0914”(association)	0.730
ELL3	CCNT1	psi-mi:“MI:0914”(association)	0.640
MLLT1	ELL2	psi-mi:“MI:0914”(association)	0.640
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
MLLT3	ELL2	psi-mi:“MI:0914”(association)	0.530
SIRT1	KPNA3	psi-mi:“MI:0915”(physical association)	0.400
MED26		psi-mi:“MI:0914”(association)	0.350
CDK9	ELL2	psi-mi:“MI:0914”(association)	0.350
PLCD3	AP3B1	psi-mi:“MI:0914”(association)	0.350
CT45A6	AP3B1	psi-mi:“MI:0914”(association)	0.350
SELENBP1	ZNF24	psi-mi:“MI:0914”(association)	0.350
ELL3	ARHGEF10	psi-mi:“MI:0914”(association)	0.350
ELL3	EAF1	psi-mi:“MI:0915”(physical association)	0.000
ELL3	FTH1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (55): ELL3 (Affinity Capture-MS), ELL3 (Affinity Capture-MS), ICE2 (Affinity Capture-MS), AFF1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), MLLT3 (Affinity Capture-MS), MLLT1 (Affinity Capture-MS), EAF2 (Affinity Capture-MS), ADD3 (Affinity Capture-MS), CCNT2 (Affinity Capture-MS), CCNT1 (Affinity Capture-MS), CDK14 (Affinity Capture-MS), ELL (Affinity Capture-MS), ELL3 (Synthetic Growth Defect), ELL3 (Reconstituted Complex)

ESM2 similar proteins: A1E2V0, A2AWP0, A6QPT6, A9JTP3, A9ULZ2, B1WBS3, O08863, O14771, O15037, O43918, O94966, P05433, P48778, P51617, Q08DD7, Q0P5G1, Q13077, Q15477, Q2LGB3, Q3TD16, Q3UJD6, Q499Z3, Q4R3B7, Q4R6Y5, Q5RA67, Q5XIS1, Q62210, Q62406, Q6AXX1, Q6J1Y9, Q75NR7, Q80U38, Q80VL3, Q811H0, Q8BHW9, Q8CFK6, Q8JHV9, Q8K330, Q8R2S1, Q8TE77

Diamond homologs: F1MGG3, O00472, O08856, P55199, Q0IHQ3, Q3UKU1, Q3UZP0, Q5XFX8, Q80VR2, Q8N4S9, Q9HB65, Q9VW51, Q28793, Q91049, Q6P6T5, Q9H607, Q9PUN1, Q8VCR9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 19 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
Formation of RNA Pol II elongation complex	6	72.6×	6e-09
RNA Polymerase II Transcription Elongation	6	72.6×	6e-09
RNA Polymerase II Pre-transcription Events	6	51.6×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1654 predictions. Top by Δscore:

Variant	Effect	Δscore
15:43773224:CTG:C	acceptor_gain	1.0000
15:43773227:C:CC	acceptor_gain	1.0000
15:43774176:CCTTA:C	donor_loss	1.0000
15:43774177:CTTA:C	donor_loss	1.0000
15:43774177:CTTAC:C	donor_loss	1.0000
15:43774178:TTACC:T	donor_loss	1.0000
15:43774179:TAC:T	donor_loss	1.0000
15:43774180:A:AC	donor_gain	1.0000
15:43774180:A:AG	donor_loss	1.0000
15:43774181:C:CC	donor_gain	1.0000
15:43774181:C:CG	donor_loss	1.0000
15:43774474:A:AC	donor_gain	1.0000
15:43774475:C:CC	donor_gain	1.0000
15:43774514:AGAAT:A	acceptor_gain	1.0000
15:43774515:GAAT:G	acceptor_gain	1.0000
15:43774516:AAT:A	acceptor_gain	1.0000
15:43774516:AATCT:A	acceptor_loss	1.0000
15:43774517:AT:A	acceptor_gain	1.0000
15:43774518:TC:T	acceptor_loss	1.0000
15:43774519:C:CC	acceptor_gain	1.0000
15:43774519:CTAGG:C	acceptor_loss	1.0000
15:43774520:T:C	acceptor_loss	1.0000
15:43774769:CGTTT:C	acceptor_gain	1.0000
15:43774774:C:CC	acceptor_gain	1.0000
15:43775446:T:TC	acceptor_gain	1.0000
15:43775531:T:TA	donor_gain	1.0000
15:43775532:C:A	donor_gain	1.0000
15:43775718:CCAC:C	donor_loss	1.0000
15:43775719:CAC:C	donor_loss	1.0000
15:43775720:A:AG	donor_loss	1.0000

AlphaMissense

2572 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:43773171:A:G	L380S	0.996
15:43773173:T:A	K379N	0.994
15:43773173:T:G	K379N	0.994
15:43773158:T:A	K384N	0.993
15:43773158:T:G	K384N	0.993
15:43774280:A:G	Y314H	0.993
15:43774299:A:C	F307L	0.993
15:43774299:A:T	F307L	0.993
15:43774301:A:G	F307L	0.993
15:43774236:G:C	F328L	0.991
15:43774236:G:T	F328L	0.991
15:43774237:A:G	F328S	0.991
15:43774238:A:G	F328L	0.991
15:43773159:T:A	K384I	0.990
15:43774276:C:G	R315P	0.990
15:43773183:A:G	L376P	0.989
15:43774279:T:G	Y314S	0.989
15:43773174:T:A	K379I	0.988
15:43774280:A:C	Y314D	0.988
15:43773195:C:G	R372P	0.985
15:43774300:A:C	F307C	0.985
15:43774300:A:G	F307S	0.985
15:43773153:A:G	L386P	0.984
15:43774279:T:C	Y314C	0.983
15:43776107:G:C	F71L	0.983
15:43776107:G:T	F71L	0.983
15:43776109:A:G	F71L	0.983
15:43776525:A:G	F51S	0.982
15:43773171:A:C	L380W	0.981
15:43773175:T:C	K379E	0.981

dbSNP variants (sampled 300 via entrez): RS1000521898 (15:43776887 C>G,T), RS1000849516 (15:43778702 C>A,T), RS1000977658 (15:43777189 AAG>A), RS1000991580 (15:43778880 C>T), RS1001486755 (15:43775202 A>G), RS1001644618 (15:43774035 T>A), RS1001749577 (15:43774952 G>A), RS1003035090 (15:43777637 T>C), RS1003581863 (15:43772597 A>T), RS1003937472 (15:43772269 C>T), RS1004195369 (15:43773286 T>A), RS1004238099 (15:43776785 C>G,T), RS1004556345 (15:43777963 C>T), RS1004630498 (15:43772860 C>T), RS1004790262 (15:43778629 G>A)

Disease associations

OMIM: gene MIM:609885 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	4
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cypermethrin	increases expression	1
entinostat	increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
Fulvestrant	decreases methylation, affects cotreatment	1
Arsenic	affects methylation	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	affects response to substance	1
Estradiol	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, decreases expression	1
Mustard Gas	increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases expression	1
Asbestos, Crocidolite	affects expression	1
Okadaic Acid	increases expression	1
Topotecan	affects response to substance	1
Particulate Matter	increases methylation	1

Clinical trials (associated diseases)

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