POLR2M

Summary

POLR2M (RNA polymerase II subunit M, HGNC:14862) is a protein-coding gene on chromosome 15q21.3, encoding DNA-directed RNA polymerase II subunit GRINL1A (P0CAP2). Appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). It is a selective cancer dependency (DepMap: 17.4% of cell lines).

This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781.

Source: NCBI Gene 81488 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Cancer dependency (DepMap): dependent in 17.4% of screened cell lines
• MANE Select transcript: NM_015532

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14862
Approved symbol	POLR2M
Name	RNA polymerase II subunit M
Location	15q21.3
Locus type	gene with protein product
Status	Approved
Aliases	Gdown, Gdown1
Ensembl gene	ENSG00000255529
Ensembl biotype	protein_coding
OMIM	606485
Entrez	81488

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 3 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000299638, ENST00000380557, ENST00000464277, ENST00000464308, ENST00000482852, ENST00000494490, ENST00000562260, ENST00000567643, ENST00000649091

RefSeq mRNA: 2 — MANE Select: NM_015532 NM_001018102, NM_015532

CCDS: CCDS32252, CCDS42045

Canonical transcript exons

ENST00000299638 — 4 exons

Exon	Start	End
ENSE00001722990	57714536	57717557
ENSE00001867778	57706714	57706955
ENSE00003491564	57711984	57712188
ENSE00003519185	57708714	57709358

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 96.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6727 / max 162.8225, expressed in 1801 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146859	11.2022	1798
146858	1.0227	563
146857	0.2863	93
146860	0.1165	43
146861	0.0450	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	96.81	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.94	gold quality
calcaneal tendon	UBERON:0003701	94.57	gold quality
cauda epididymis	UBERON:0004360	93.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.73	gold quality
secondary oocyte	CL:0000655	93.67	gold quality
choroid plexus epithelium	UBERON:0003911	93.13	gold quality
vena cava	UBERON:0004087	92.40	gold quality
cranial nerve II	UBERON:0000941	92.30	gold quality
biceps brachii	UBERON:0001507	92.20	gold quality
endometrium	UBERON:0001295	92.16	gold quality
descending thoracic aorta	UBERON:0002345	92.01	gold quality
seminal vesicle	UBERON:0000998	91.94	gold quality
vastus lateralis	UBERON:0001379	91.94	gold quality
parietal pleura	UBERON:0002400	91.67	gold quality
middle frontal gyrus	UBERON:0002702	91.61	gold quality
pigmented layer of retina	UBERON:0001782	91.51	gold quality
myometrium	UBERON:0001296	91.46	gold quality
corpus callosum	UBERON:0002336	91.42	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.36	gold quality
colonic epithelium	UBERON:0000397	91.28	gold quality
caput epididymis	UBERON:0004358	91.26	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.26	gold quality
pericardium	UBERON:0002407	91.21	gold quality
muscle of leg	UBERON:0001383	91.19	gold quality
thoracic aorta	UBERON:0001515	91.16	gold quality
ascending aorta	UBERON:0001496	91.13	gold quality
muscle organ	UBERON:0001630	91.11	gold quality
aorta	UBERON:0000947	91.02	gold quality
skeletal muscle tissue	UBERON:0001134	90.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.66
E-MTAB-6142	no	172.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting POLR2M, 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-3162-3P	100.00	65.37	363
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-493-5P	99.96	72.47	2382

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 17.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Data identify GRINL1A as a membrane-associated DYNLL1 binding partner and suggest that additional DYNLL1-binding partners are present near this glutamate channel homolog. (PMID:20412299)
• Gdown1 stabilizes poised polymerases while maintaining their responsiveness to P-TEFb. (PMID:22244331)
• Gdown1 competes with TFIIF for binding to the RPB1 and RPB5 subunits of Pol II, thereby inhibiting an essential function of TFIIF in preinitiation complex assembly. (PMID:22244332)
• Modification of TFIIF provides one pathway through which efficient Gdown1 loading can occur early in elongation, allowing downstream pausing to be regulated. (PMID:24596085)
• Data indicate that phosphorylation of Gdown1 on Ser-270 reduces Its affinity for RNA polymerase II. (PMID:24634214)
• The relatively slow functional loading of Gdown1 in the presence of TFIIF. (PMID:27716820)
• The tumor suppressor MIR139 is silenced by POLR2M to promote AML oncogenesis. (PMID:34741119)
• Nuclear export restricts Gdown1 to a mitotic function. (PMID:35048979)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	polr2m	ENSDARG00000074968
mus_musculus	Polr2m	ENSMUSG00000032199
rattus_norvegicus	Polr2m	ENSRNOG00000057676
rattus_norvegicus		ENSRNOG00000073310
rattus_norvegicus		ENSRNOG00000075365
rattus_norvegicus		ENSRNOG00000080605
rattus_norvegicus		ENSRNOG00000081126
rattus_norvegicus		ENSRNOG00000081144

Paralogs (3): TUFT1 (ENSG00000143367), CCDC68 (ENSG00000166510), MYZAP (ENSG00000263155)

Protein

Protein identifiers

DNA-directed RNA polymerase II subunit GRINL1A — P0CAP2 (reviewed: P0CAP2, Q6EEV4)

Alternative names: DNA-directed RNA polymerase II subunit M, Glutamate receptor-like protein 1A

All UniProt accessions (4): P0CAP2, Q6EEV4, E9PP13, L0R6H6

UniProt curated annotations — full annotation on UniProt →

Function. Appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery. May play a role in the Mediator complex-dependent regulation of transcription activation. Acts as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcription to a level equivalent to that of Pol II.

Subunit / interactions. Component of the Pol II(G) complex, which contains the RNA polymerase II (Pol II) core complex subunits and POLR2M isoform 1. Pol II(G) appears to be an abundant form of Pol II.

Subcellular location. Nucleus.

Tissue specificity. Detected in adult an fetal brain. Detected in heart, kidney, skeletal muscle, small intestine, lung, prostate and testis.

Post-translational modifications. Dephosphorylated at Ser-270 by the PNUTS-PP1 complex, promoting RNA polymerase II transcription pause-release.

Miscellaneous. The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene.

Similarity. Belongs to the GRINL1 family.

Isoforms (6)

UniProt ID	Names	Canonical?
P0CAP2-1	1, Gdown1	yes
P0CAP2-2	2, Gdown6
P0CAP2-3	3
Q6EEV4-1	4, Gdown4
Q6EEV4-2	5, Gdown3
P0CAP1-11	11, Gcom1, GRINL1A complex locus protein 1

RefSeq proteins (2): NP_001018112, NP_056347* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026213	GRINL1	Family
IPR051375	Tuftelin_GRINL1A/MYZAP/CCD68	Family

Pfam: PF15328

UniProt features (30 total): region of interest 9, mutagenesis site 7, compositionally biased region 5, splice variant 3, chain 2, modified residue 1, sequence conflict 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6DRD	ELECTRON MICROSCOPY	3.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0CAP2-F1	67.22	0.19
AF-Q6EEV4-F1	51.03	0.00

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): 270

Mutagenesis-validated functional residues (7):

Position	Phenotype
29–30	abolishes the interaction with pol ii.
32	stabilizes the interaction with pol ii.
33	markedly reduces the interaction with pol ii.
49–50	markedly reduces the interaction with pol ii.
53	stabilizes the interaction with pol ii.
66–67	stabilizes the interaction with pol ii.
303–304	loss of transcription repressor activity. abolishes the interaction with pol ii.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 166 (showing top): WENDT_COHESIN_TARGETS_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_MAINTENANCE_OF_LOCATION, ROZANOV_MMP14_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOCC_RNA_POLYMERASE_COMPLEX, GCM_NF2, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION, MODULE_277, GOBP_ORGANELLE_LOCALIZATION, OSMAN_BLADDER_CANCER_DN

GO Biological Process (2): transcription elongation by RNA polymerase II (GO:0006368), maintenance of ER location (GO:0051685)

GO Molecular Function (2): RNA polymerase II complex binding (GO:0000993), transcription elongation factor activity (GO:0003711)

GO Cellular Component (7): nuclear envelope (GO:0005635), RNA polymerase II, core complex (GO:0005665), I band (GO:0031674), neuronal cell body (GO:0043025), transcription preinitiation complex (GO:0097550), DNA-directed RNA polymerase complex (GO:0000428), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription elongation	1
transcription by RNA polymerase II	1
endoplasmic reticulum localization	1
maintenance of organelle location	1
RNA polymerase core enzyme binding	1
transcription regulator activity	1
nucleus	1
endomembrane system	1
organelle envelope	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
sarcomere	1
cellular anatomical structure	1
somatodendritic compartment	1
cell body	1
protein-DNA complex	1
RNA polymerase complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLR2M	MYZAP	P0CAP1	819
POLR2M	SUPT5H	O00267	685
POLR2M	SUPT4H1	P63272	643
POLR2M	TCEA1	P23193	603
POLR2M	TCEA2	Q15560	601
POLR2M	TCEA3	O75764	596
POLR2M	TTF2	Q9UNY4	593
POLR2M	GTF2B	Q00403	577
POLR2M	Q9HB66	Q9HB66	571
POLR2M	MED18	Q9BUE0	539
POLR2M	MED26	O95402	504
POLR2M	POLR2C	P19387	490
POLR2M	POLR2E	P19388	482
POLR2M	NHSL2	Q5HYW2	482
POLR2M	POLR2A	P24928	475

IntAct

31 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
MED30	MED19	psi-mi:“MI:0914”(association)	0.790
POLR2D	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
PIN1	POLR2D	psi-mi:“MI:0914”(association)	0.640
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
POLR2M	BIN1	psi-mi:“MI:0914”(association)	0.530
GPN3	POLR3A	psi-mi:“MI:0914”(association)	0.530
POLR2D	POLR2M	psi-mi:“MI:0914”(association)	0.530
POLR2J	MED14	psi-mi:“MI:0914”(association)	0.530
POLR2M	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
POLR2M	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
POLR2M	LRRK1	psi-mi:“MI:0407”(direct interaction)	0.440
POLR2M	PB2	psi-mi:“MI:0915”(physical association)	0.370
THAP1	POLR2M	psi-mi:“MI:0915”(physical association)	0.370
CEBPG	POLR2M	psi-mi:“MI:0915”(physical association)	0.370
POLR2G	POLR2B	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ORF24	POLR2D	psi-mi:“MI:0914”(association)	0.350
POLR2M	MED19	psi-mi:“MI:0914”(association)	0.350
RPAP2	APOC3	psi-mi:“MI:0914”(association)	0.350
RPRD1A	RECQL5	psi-mi:“MI:0914”(association)	0.350
PIH1D1		psi-mi:“MI:0914”(association)	0.350

BioGRID (226): POLR2M (Affinity Capture-MS), POLR2M (Affinity Capture-MS), POLR2M (Affinity Capture-MS), POLR2G (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), USP47 (Affinity Capture-MS), POLR2A (Affinity Capture-MS), POLR2D (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), AMD1 (Affinity Capture-MS), RECQL5 (Affinity Capture-MS), POLR2B (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), COA1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2K1JJ00, A1L2H3, B0S6S9, D3Z987, E1BC15, E9Q309, O14513, O43303, P0CAP2, P16128, P56715, Q12912, Q15468, Q1X8D7, Q2M2Z5, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5HZI1, Q5R9I1, Q5REC6, Q60988, Q6IRT3, Q6KAQ7, Q6P0N0, Q6ZP01, Q6ZU52, Q7SZL5, Q7TSH4, Q7Z333, Q80U44, Q80WQ8, Q86UW6, Q86XD8, Q8IWI9, Q8IYH5, Q8K2J4, Q8L7I1

Diamond homologs: P0CAP2, Q17QE3, Q5REC6, Q6P6I6, Q91XQ4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR2M	“form complex”	“RNA Polymerase II”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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
FGFR2 mutant receptor activation	6	182.7×	8e-12
Signaling by FGFR2 IIIa TM	6	144.2×	4e-11
Abortive elongation of HIV-1 transcript in the absence of Tat	6	119.2×	1e-10
MicroRNA (miRNA) biogenesis	6	109.6×	2e-10
Activation of HOX genes during differentiation	6	105.4×	2e-10
Signaling by FGFR in disease	6	101.5×	2e-10
FGFR2 alternative splicing	6	101.5×	2e-10
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	6	97.9×	2e-10

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	7	70.2×	1e-09
RNA polymerase II preinitiation complex assembly	7	63.4×	1e-09
positive regulation of transcription initiation by RNA polymerase II	7	63.4×	1e-09
transcription by RNA polymerase II	7	16.4×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1048 predictions. Top by Δscore:

Variant	Effect	Δscore
15:57706954:GA:G	donor_gain	1.0000
15:57706956:G:GG	donor_gain	1.0000
15:57709297:G:GT	donor_gain	1.0000
15:57709335:GCTGC:G	donor_gain	1.0000
15:57709336:C:G	donor_gain	1.0000
15:57709354:AATGT:A	donor_gain	1.0000
15:57709355:ATGT:A	donor_gain	1.0000
15:57709357:GT:G	donor_gain	1.0000
15:57709359:G:GG	donor_gain	1.0000
15:57711979:A:AG	acceptor_gain	1.0000
15:57711979:ATCAG:A	acceptor_gain	1.0000
15:57711980:T:G	acceptor_gain	1.0000
15:57711981:CA:C	acceptor_loss	1.0000
15:57711982:A:AG	acceptor_gain	1.0000
15:57711982:AG:A	acceptor_gain	1.0000
15:57711983:G:GT	acceptor_gain	1.0000
15:57711983:GG:G	acceptor_gain	1.0000
15:57711983:GGT:G	acceptor_gain	1.0000
15:57711983:GGTT:G	acceptor_gain	1.0000
15:57711983:GGTTA:G	acceptor_gain	1.0000
15:57712186:G:GT	donor_gain	1.0000
15:57712186:GAG:G	donor_gain	1.0000
15:57712187:AGG:A	donor_loss	1.0000
15:57712188:GG:G	donor_loss	1.0000
15:57712189:G:GG	donor_gain	1.0000
15:57713541:G:T	donor_gain	1.0000
15:57714531:TAAA:T	acceptor_loss	1.0000
15:57714535:G:GT	acceptor_loss	1.0000
15:57706937:A:T	donor_gain	0.9900
15:57706952:ACGA:A	donor_gain	0.9900

AlphaMissense

2421 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:57714545:G:C	A325P	0.987
15:57714557:G:C	A329P	0.985
15:57714567:T:C	L332S	0.980
15:57712150:T:C	S309P	0.979
15:57709345:T:C	F249L	0.978
15:57709347:T:A	F249L	0.978
15:57709347:T:G	F249L	0.978
15:57708731:T:C	L44S	0.973
15:57714569:G:C	A333P	0.968
15:57708718:T:C	F40L	0.967
15:57708720:C:A	F40L	0.967
15:57708720:C:G	F40L	0.967
15:57714554:G:C	A328P	0.963
15:57712160:T:C	L312P	0.955
15:57706930:C:A	R30S	0.954
15:57708742:G:C	G48R	0.954
15:57706931:G:C	R30P	0.950
15:57708743:G:A	G48D	0.949
15:57714552:T:C	L327P	0.948
15:57708743:G:T	G48V	0.947
15:57714561:A:C	Q330P	0.946
15:57712093:G:C	A290P	0.945
15:57712097:C:A	A291D	0.943
15:57706913:T:C	L24P	0.941
15:57712172:A:C	Q316P	0.938
15:57708742:G:T	G48C	0.936
15:57706943:T:C	L34P	0.935
15:57708719:T:C	F40S	0.934
15:57708773:T:C	L58P	0.933
15:57712163:A:C	Q313P	0.930

dbSNP variants (sampled 300 via entrez): RS1000469353 (15:57707671 C>G,T), RS1000542567 (15:57707498 T>C), RS1000700173 (15:57712755 T>C), RS1001026831 (15:57713008 G>A,T), RS1001991878 (15:57708402 A>C,T), RS1002022934 (15:57708161 C>T), RS1002477124 (15:57705872 A>G), RS1002700818 (15:57710598 C>G,T), RS1003163248 (15:57706222 A>G), RS1003618727 (15:57714147 C>G), RS1003668229 (15:57709695 C>A,T), RS1003702462 (15:57709450 G>A,T), RS1004106330 (15:57708502 T>C), RS1004497391 (15:57712480 A>G), RS1005213287 (15:57717775 G>A)

Disease associations

OMIM: gene MIM:606485 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002719_4	Seasonality	5.000000e-06
GCST002875_16	Diisocyanate-induced asthma	1.000000e-06
GCST002875_20	Diisocyanate-induced asthma	1.000000e-06
GCST008158_17	Body mass index	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006876	seasonality measurement
EFO:0006995	response to diisocyanate
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Catechin	increases expression, affects cotreatment	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Doxorubicin	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methotrexate	decreases expression	1
Selenium	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Isotretinoin	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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