PLCL2

Summary

PLCL2 (phospholipase C like 2, HGNC:9064) is a protein-coding gene on chromosome 3p24.3, encoding Inactive phospholipase C-like protein 2 (Q9UPR0). May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum.

Enables GABA receptor binding activity. Predicted to be involved in several processes, including gamma-aminobutyric acid signaling pathway; negative regulation of cold-induced thermogenesis; and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within B cell proliferation involved in immune response; B-1a B cell differentiation; and negative regulation of B cell receptor signaling pathway. Predicted to be located in cytoplasm.

Source: NCBI Gene 23228 — RefSeq curated summary.

At a glance

• GWAS associations: 74
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001144382

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9064
Approved symbol	PLCL2
Name	phospholipase C like 2
Location	3p24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1092
Ensembl gene	ENSG00000154822
Ensembl biotype	protein_coding
OMIM	614276
Entrez	23228

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000419842, ENST00000432376, ENST00000460467, ENST00000615277, ENST00000955152

RefSeq mRNA: 2 — MANE Select: NM_001144382 NM_001144382, NM_015184

CCDS: CCDS33713, CCDS74911

Canonical transcript exons

ENST00000615277 — 6 exons

Exon	Start	End
ENSE00001017989	17014708	17014911
ENSE00001017991	17042874	17042949
ENSE00001017993	17067956	17068065
ENSE00003720372	17089733	17090604
ENSE00003724159	17009674	17012160
ENSE00003732272	16884955	16885366

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 94.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1942 / max 758.6153, expressed in 1105 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35594	2.5944	677
35592	1.7157	552
35593	0.7618	280
35590	0.4449	212
35587	0.2778	149
35591	0.1086	42
35580	0.0990	8
35588	0.0908	36
35589	0.0729	17
35579	0.0147	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.76	gold quality
skeletal muscle tissue	UBERON:0001134	92.39	gold quality
leukocyte	CL:0000738	91.36	gold quality
monocyte	CL:0000576	91.23	gold quality
ganglionic eminence	UBERON:0004023	90.01	gold quality
bone marrow cell	CL:0002092	89.96	gold quality
granulocyte	CL:0000094	89.17	gold quality
muscle of leg	UBERON:0001383	89.01	gold quality
gastrocnemius	UBERON:0001388	89.01	gold quality
blood	UBERON:0000178	88.92	gold quality
muscle tissue	UBERON:0002385	88.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.07	gold quality
heart left ventricle	UBERON:0002084	87.88	gold quality
bone marrow	UBERON:0002371	87.88	gold quality
islet of Langerhans	UBERON:0000006	87.79	gold quality
lymph node	UBERON:0000029	87.46	gold quality
adrenal tissue	UBERON:0018303	87.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.24	gold quality
cerebellum	UBERON:0002037	86.10	gold quality
cerebellar cortex	UBERON:0002129	86.10	gold quality
cerebellar hemisphere	UBERON:0002245	86.03	gold quality
heart	UBERON:0000948	85.46	gold quality
superior frontal gyrus	UBERON:0002661	85.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.30	gold quality
right atrium auricular region	UBERON:0006631	83.95	gold quality
prefrontal cortex	UBERON:0000451	83.92	gold quality
duodenum	UBERON:0002114	83.79	gold quality
right adrenal gland cortex	UBERON:0035827	83.52	gold quality
ventricular zone	UBERON:0003053	83.43	gold quality
rectum	UBERON:0001052	82.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	64.07
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting PLCL2, 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-4262	100.00	73.26	3931
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-568	99.98	69.86	2084
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-4715-3P	99.98	66.03	670
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505

Literature-anchored findings (GeneRIF, showing 4)

• A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese (PMID:24916648)
• PLCL2 was identified as a new susceptibility gene for systemic sclerosis. (PMID:25880423)
• Two Novel SNPs in the PLCL2 Gene Associated with Large Artery Atherosclerotic Stroke Identified by Fine-Mapping. (PMID:31970634)
• [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer]. (PMID:32392189)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	plcl2	ENSDARG00000098826
mus_musculus	Plcl2	ENSMUSG00000038910
rattus_norvegicus	Plcl2	ENSRNOG00000013368
drosophila_melanogaster	sl	FBGN0003416
drosophila_melanogaster	Plc21C	FBGN0004611
caenorhabditis_elegans		WBGENE00004038
caenorhabditis_elegans		WBGENE00004039
caenorhabditis_elegans		WBGENE00004045

Paralogs (14): PLCB4 (ENSG00000101333), PLCH1 (ENSG00000114805), PLCD4 (ENSG00000115556), PLCL1 (ENSG00000115896), PLCG1 (ENSG00000124181), PLCB2 (ENSG00000137841), PLCE1 (ENSG00000138193), PLCZ1 (ENSG00000139151), PLCH2 (ENSG00000149527), PLCB3 (ENSG00000149782), PLCD3 (ENSG00000161714), PLCB1 (ENSG00000182621), PLCD1 (ENSG00000187091), PLCG2 (ENSG00000197943)

Protein

Protein identifiers

Inactive phospholipase C-like protein 2 — Q9UPR0 (reviewed: Q9UPR0)

Alternative names: Phospholipase C-epsilon-2

All UniProt accessions (2): Q9UPR0, H7C276

UniProt curated annotations — full annotation on UniProt →

Function. May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum.

Subcellular location. Cytoplasm.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UPR0-1	1	yes
Q9UPR0-2	2
Q9UPR0-3	3

RefSeq proteins (2): NP_001137854, NP_055999 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR000909	PLipase_C_PInositol-sp_X_dom	Domain
IPR001192	PI-PLC_fam	Family
IPR001711	PLipase_C_Pinositol-sp_Y	Domain
IPR001849	PH_domain	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR015359	PLC_EF-hand-like	Domain
IPR017946	PLC-like_Pdiesterase_TIM-brl	Homologous_superfamily
IPR028382	PLCL2_EFh	Domain
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168, PF00387, PF00388, PF09279, PF16457

UniProt features (25 total): modified residue 5, sequence variant 5, compositionally biased region 4, domain 4, splice variant 3, region of interest 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPR0-F1	81.80	0.60

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 (5): 2, 17, 84, 584, 1113

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 264 (showing top): GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_B_CELL_ACTIVATION, MODULE_45, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_B_CELL_PROLIFERATION, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (13): B cell proliferation involved in immune response (GO:0002322), B-1a B cell differentiation (GO:0002337), gamma-aminobutyric acid signaling pathway (GO:0007214), regulation of synaptic transmission, GABAergic (GO:0032228), phosphatidylinositol metabolic process (GO:0046488), phosphatidylinositol-mediated signaling (GO:0048015), negative regulation of B cell receptor signaling pathway (GO:0050859), release of sequestered calcium ion into cytosol (GO:0051209), negative regulation of cold-induced thermogenesis (GO:0120163), lipid metabolic process (GO:0006629), signal transduction (GO:0007165), lipid catabolic process (GO:0016042), intracellular signal transduction (GO:0035556)

GO Molecular Function (6): phosphatidylinositol-4,5-bisphosphate phospholipase C activity (GO:0004435), GABA receptor binding (GO:0050811), inositol 1,4,5 trisphosphate binding (GO:0070679), protein binding (GO:0005515), phosphoric diester hydrolase activity (GO:0008081), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
B cell activation involved in immune response	1
immune response	1
B cell proliferation	1
B-1 B cell differentiation	1
cell-cell signaling	1
GABA receptor activity	1
modulation of chemical synaptic transmission	1
synaptic transmission, GABAergic	1
phosphorus metabolic process	1
intracellular signal transduction	1
B cell receptor signaling pathway	1
regulation of B cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
intercellular transport	1
calcium ion transmembrane import into cytosol	1
negative regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
primary metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
lipid metabolic process	1
catabolic process	1
signal transduction	1
C-type glycerophospholipase activity	1
signaling receptor binding	1
anion binding	1
alcohol binding	1
binding	1
phosphoric ester hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

868 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLCL2	MACIR	Q96GV9	406
PLCL2	DENND1B	Q6P3S1	403
PLCL2	INPP5A	Q14642	394
PLCL2	MANBA	O00462	376
PLCL2	IQCJ	Q1A5X6	365
PLCL2	GALNTL5	Q7Z4T8	363
PLCL2	DGKQ	P52824	352
PLCL2	AGAP5	A6NIR3	350
PLCL2	EXOC3L4	Q17RC7	349
PLCL2	POU2AF2	Q8IXP5	348
PLCL2	GALNT15	Q8N3T1	346
PLCL2	RPS6KA4	O75676	336
PLCL2	LRRC3B	Q96PB8	336
PLCL2	OXNAD1	Q96HP4	336
PLCL2	ZNF704	Q6ZNC4	321

IntAct

32 interactions, top by confidence:

A	B	Type	Score
PPIL3	SLU7	psi-mi:“MI:0914”(association)	0.850
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
PLCL2	PPP1CA	psi-mi:“MI:0915”(physical association)	0.660
MTHFS	PLCL2	psi-mi:“MI:0915”(physical association)	0.590
PLCL2	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
PLCL2	GSN	psi-mi:“MI:0915”(physical association)	0.560
PLCL2	HRAS	psi-mi:“MI:0915”(physical association)	0.560
DSCAML1	PLCL2	psi-mi:“MI:0915”(physical association)	0.370
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.350
CASP1	KIF11	psi-mi:“MI:0914”(association)	0.350
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.350
PPIL3	SNX3	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
PPP1CC	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
PLCL2	SLC35F5	psi-mi:“MI:0915”(physical association)	0.000
PLCL2	SHOC2	psi-mi:“MI:0915”(physical association)	0.000
TNIK	PLCL2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (32): PLCL2 (Affinity Capture-RNA), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), PLCL2 (Affinity Capture-MS), SHOC2 (Affinity Capture-MS), SLC35F5 (Affinity Capture-MS), PLCL2 (Affinity Capture-RNA), PLCL2 (Affinity Capture-RNA), PLCL2 (Proximity Label-MS)

ESM2 similar proteins: A0A075QQ08, A0A0P0V4R0, A0A1D8EJF9, A0A1U8F5V2, A0A1U8GR65, A0A2J6L8Y7, A0A3Q7FGP1, A0A3Q7I7R4, A0A445AGS0, A2X0Q3, A7KWF8, C6ZJZ3, C7SG33, D3UW26, K0P2S0, M1J8U6, M1JJT8, O23252, O60573, O77210, O81481, O81482, P0DXI0, P0DXI5, P10687, P10894, P29557, P48599, P48600, Q03389, Q0GRC4, Q3UTA9, Q4QXS7, Q4VQY1, Q4VQY3, Q5ZLV4, Q66UV4, Q66WU1, Q6YXZ7, Q8BMB3

Diamond homologs: A2AP18, A3KGF7, A5D6R3, G5EBH0, G5EFI8, O75038, O89040, P10687, P10688, P10894, P10895, P21671, P25455, P51178, P51432, Q00722, Q01970, Q07722, Q15111, Q15147, Q1RML2, Q2VRL0, Q32NH8, Q3USB7, Q4KWH5, Q4KWH8, Q4R6L3, Q5FX52, Q5RET0, Q62688, Q62711, Q6NMA7, Q7YRU3, Q86YW0, Q8K2J0, Q8K394, Q8K3R3, Q8K4D7, Q8K4S1, Q8L706

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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.

GO biological processes:

GO term	Partners	Fold	FDR
MAPK cascade	5	42.6×	2e-05
cell division	5	12.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1985 predictions. Top by Δscore:

Variant	Effect	Δscore
3:16933241:G:T	donor_gain	1.0000
3:16933292:G:GG	donor_gain	1.0000
3:16937659:G:GG	donor_gain	1.0000
3:17009669:CTCA:C	acceptor_loss	1.0000
3:17009670:TCAG:T	acceptor_loss	1.0000
3:17009671:CAGG:C	acceptor_loss	1.0000
3:17009672:AG:A	acceptor_gain	1.0000
3:17009672:AGGAT:A	acceptor_gain	1.0000
3:17009673:G:GC	acceptor_loss	1.0000
3:17009673:GG:G	acceptor_gain	1.0000
3:17009673:GGATG:G	acceptor_gain	1.0000
3:17014704:ACAG:A	acceptor_loss	1.0000
3:17014705:CAG:C	acceptor_loss	1.0000
3:17014706:A:AG	acceptor_gain	1.0000
3:17014706:AGA:A	acceptor_loss	1.0000
3:17014707:G:GC	acceptor_gain	1.0000
3:17014707:GA:G	acceptor_gain	1.0000
3:17014707:GAA:G	acceptor_gain	1.0000
3:17014707:GAAT:G	acceptor_gain	1.0000
3:17014908:CATG:C	donor_gain	1.0000
3:17014910:TGG:T	donor_loss	1.0000
3:17014912:G:A	donor_loss	1.0000
3:17014912:G:GG	donor_gain	1.0000
3:17014913:T:G	donor_loss	1.0000
3:17042868:TTGCA:T	acceptor_loss	1.0000
3:17042870:GCAG:G	acceptor_loss	1.0000
3:17042871:CAG:C	acceptor_loss	1.0000
3:17042872:A:AC	acceptor_loss	1.0000
3:17042872:A:AG	acceptor_gain	1.0000
3:17042872:AGAT:A	acceptor_gain	1.0000

AlphaMissense

7493 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:17009711:T:A	V122D	1.000
3:17009716:T:C	F124L	1.000
3:17009718:C:A	F124L	1.000
3:17009718:C:G	F124L	1.000
3:17009797:A:G	K151E	1.000
3:17009799:G:C	K151N	1.000
3:17009799:G:T	K151N	1.000
3:17009821:T:G	Y159D	1.000
3:17009827:A:G	R161G	1.000
3:17009828:G:C	R161T	1.000
3:17009828:G:T	R161M	1.000
3:17009829:G:C	R161S	1.000
3:17009829:G:T	R161S	1.000
3:17009866:T:A	W174R	1.000
3:17009866:T:C	W174R	1.000
3:17009867:G:C	W174S	1.000
3:17009868:G:C	W174C	1.000
3:17009868:G:T	W174C	1.000
3:17010032:T:C	L229P	1.000
3:17010070:T:A	W242R	1.000
3:17010070:T:C	W242R	1.000
3:17010083:T:C	L246P	1.000
3:17010665:C:T	S440F	1.000
3:17010680:T:C	L445S	1.000
3:17010734:T:C	L463P	1.000
3:17010776:G:A	G477E	1.000
3:17010791:C:A	P482H	1.000
3:17010791:C:G	P482R	1.000
3:17010915:T:G	C523W	1.000
3:17011304:C:A	A653D	1.000

dbSNP variants (sampled 300 via entrez): RS1000001341 (3:17030051 C>T), RS1000026772 (3:16904901 T>C), RS1000028562 (3:17078203 C>A), RS1000042190 (3:16883963 G>A,C), RS1000045205 (3:16988808 G>A), RS1000055622 (3:16994924 G>C), RS1000103073 (3:17077837 A>G,T), RS1000118056 (3:17026634 G>T), RS1000158379 (3:16883893 T>C), RS1000168304 (3:17004735 G>A), RS1000169862 (3:17068951 T>C), RS1000173580 (3:17067344 A>G), RS1000215171 (3:16887632 T>C), RS1000217241 (3:16977658 A>T), RS1000246994 (3:16887441 G>A)

Disease associations

OMIM: gene MIM:614276 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

74 associations (top):

Study	Trait	p-value
GCST001010_19	Primary biliary cholangitis	2.000000e-08
GCST001198_68	Multiple sclerosis	4.000000e-06
GCST002318_74	Rheumatoid arthritis	5.000000e-11
GCST002318_87	Rheumatoid arthritis	2.000000e-10
GCST002475_1	Myocardial infarction	3.000000e-09
GCST002889_2	Psoriasis	7.000000e-14
GCST003129_18	Primary biliary cholangitis	4.000000e-08
GCST003268_1	Psoriasis vulgaris	2.000000e-07
GCST004004_10	Mean corpuscular volume	5.000000e-08
GCST004006_1	Mean corpuscular hemoglobin	9.000000e-11
GCST004006_4	Mean corpuscular hemoglobin	1.000000e-06
GCST004364_18	Intelligence	5.000000e-08
GCST004364_36	Intelligence	5.000000e-08
GCST004601_39	Red blood cell count	1.000000e-12
GCST004602_100	Mean corpuscular volume	2.000000e-11
GCST004602_98	Mean corpuscular volume	5.000000e-19
GCST004602_99	Mean corpuscular volume	1.000000e-15
GCST004624_41	Sum eosinophil basophil counts	3.000000e-10
GCST004630_112	Mean corpuscular hemoglobin	4.000000e-17
GCST004630_113	Mean corpuscular hemoglobin	6.000000e-14
GCST004748_37	Lung cancer	2.000000e-06
GCST005141_4	Cognitive ability (MTAG)	6.000000e-11
GCST005993_67	Mean corpuscular hemoglobin	2.000000e-23
GCST005996_55	Red blood cell count	4.000000e-14
GCST006011_97	Mean corpuscular volume	5.000000e-26
GCST006622_1	Neonatal cytokine/chemokine levels (fetal genetic effect)	9.000000e-21
GCST006622_10	Neonatal cytokine/chemokine levels (fetal genetic effect)	9.000000e-10
GCST006622_11	Neonatal cytokine/chemokine levels (fetal genetic effect)	2.000000e-08
GCST006622_2	Neonatal cytokine/chemokine levels (fetal genetic effect)	3.000000e-20
GCST006622_3	Neonatal cytokine/chemokine levels (fetal genetic effect)	3.000000e-19

EFO canonical traits (28, from GWAS)

EFO ID	Trait name
EFO:0004267	biliary liver cirrhosis
EFO:1001494	psoriasis vulgaris
EFO:0004527	mean corpuscular hemoglobin
EFO:0004337	intelligence
EFO:0004305	erythrocyte count
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0004784	self reported educational attainment
EFO:0004747	protein measurement
EFO:0007959	fetal genotype effect measurement
EFO:0009421	CXCL13 measurement
EFO:0009419	CX3CL1 measurement
EFO:0008236	monokine induced by gamma interferon measurement
EFO:0008165	interferon gamma measurement
EFO:0008331	interleukin 2 measurement
EFO:0004810	interleukin-6 measurement
EFO:0004750	interleukin 10 measurement
EFO:0004812	interleukin-1 beta measurement
EFO:0007660	neuroticism measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008475	mood instability measurement
EFO:0005670	smoking initiation
EFO:0009863	anxiety measurement
EFO:0007992	basophil percentage of leukocytes
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	7
(+)-JQ1 compound	decreases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
trichostatin A	decreases expression	1
dimethylselenide	increases expression, increases oxidation	1
potassium chromate(VI)	increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression, affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Carbamazepine	affects expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Melphalan	decreases expression	1
Methyl Methanesulfonate	increases expression	1

Clinical trials (associated diseases)

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