PLCL1

Summary

PLCL1 (phospholipase C like 1 (inactive), HGNC:9063) is a protein-coding gene on chromosome 2q33.1, encoding Inactive phospholipase C-like protein 1 (Q15111). Involved in an inositol phospholipid-based intracellular signaling cascade.

Predicted to enable GABA receptor binding activity and phosphatidylinositol-4,5-bisphosphate phospholipase C 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 be located in cytoplasm.

Source: NCBI Gene 5334 — RefSeq curated summary.

At a glance

• GWAS associations: 63
• Clinical variants (ClinVar): 147 total
• MANE Select transcript: NM_006226

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9063
Approved symbol	PLCL1
Name	phospholipase C like 1 (inactive)
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	PLC-L, PLCL, PRIP, PPP1R127
Ensembl gene	ENSG00000115896
Ensembl biotype	protein_coding
OMIM	600597
Entrez	5334

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000428675, ENST00000435320, ENST00000472193, ENST00000487695, ENST00000625084

RefSeq mRNA: 1 — MANE Select: NM_006226 NM_006226

CCDS: CCDS2326

Canonical transcript exons

ENST00000428675 — 6 exons

Exon	Start	End
ENSE00001597184	198146780	198149863
ENSE00003586360	198101285	198101360
ENSE00003606669	198083758	198086232
ENSE00003629993	198103827	198103936
ENSE00003631764	198088858	198089061
ENSE00003847923	197804593	197805339

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 95.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9665 / max 698.3658, expressed in 1001 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24491	10.0157	896
24492	2.6899	576
24493	0.9748	374
24494	0.1563	87
24495	0.1298	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	95.38	gold quality
corpus callosum	UBERON:0002336	94.79	gold quality
medial globus pallidus	UBERON:0002477	94.33	gold quality
choroid plexus epithelium	UBERON:0003911	93.59	gold quality
globus pallidus	UBERON:0001875	92.73	gold quality
inferior vagus X ganglion	UBERON:0005363	92.14	gold quality
renal medulla	UBERON:0000362	91.99	gold quality
pons	UBERON:0000988	91.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.26	gold quality
secondary oocyte	CL:0000655	90.80	gold quality
nephron tubule	UBERON:0001231	90.64	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.52	gold quality
blood vessel layer	UBERON:0004797	90.20	gold quality
spinal cord	UBERON:0002240	90.15	gold quality
left ventricle myocardium	UBERON:0006566	90.00	gold quality
subthalamic nucleus	UBERON:0001906	89.77	gold quality
decidua	UBERON:0002450	89.28	gold quality
cardiac ventricle	UBERON:0002082	88.65	gold quality
heart left ventricle	UBERON:0002084	88.57	gold quality
superior vestibular nucleus	UBERON:0007227	87.90	gold quality
kidney epithelium	UBERON:0004819	86.89	gold quality
medulla oblongata	UBERON:0001896	86.85	gold quality
myocardium	UBERON:0002349	86.74	gold quality
endothelial cell	CL:0000115	86.66	silver quality
heart	UBERON:0000948	86.54	gold quality
cortical plate	UBERON:0005343	85.97	gold quality
orbitofrontal cortex	UBERON:0004167	85.76	gold quality
biceps brachii	UBERON:0001507	85.68	gold quality
vastus lateralis	UBERON:0001379	85.62	gold quality
oocyte	CL:0000023	85.13	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	2726.68
E-HCAD-35	yes	110.70
E-HCAD-25	yes	55.11
E-CURD-119	yes	39.28
E-ANND-3	no	5.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

147 targeting PLCL1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-205-3P	99.92	69.92	3165

Literature-anchored findings (GeneRIF, showing 10)

• PRIP-1 plays an important role in type A receptor signaling for gamma-aminobutyric acid in the brain (PMID:16952428)
• PLCL1 is a novel gene associated with variation in hip bone size, which has a role in the pathogenesis of hip fractures (PMID:18776929)
• In postmenopausal women, our results suggest that the PLCL1 rs7595412 polymorphism has no obvious effect on hip bone size and bone mineral density but may be associated with increased proportion of vertebral fracture and increased levels of osteocalcin (PMID:20030815)
• effect of DZP on PRIP-1 knockout mice was reduced (PMID:22128345)
• PRIP interacts with the catalytic subunits of PP1 and PP2A and the interactions are regulated by phosphorylation. [review] (PMID:23911386)
• susceptibility gene for dermatomyositis in Chinese patients with idiopathic inflammatory myopathies (PMID:26603167)
• Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method. (PMID:34115876)
• PLCL1 regulates fibroblast-like synoviocytes inflammation via NLRP3 inflammasomes in rheumatoid arthritis. (PMID:35820936)
• PLCL1 suppresses tumour progression by regulating AMPK/mTOR-mediated autophagy in renal cell carcinoma. (PMID:37801481)
• DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1. (PMID:39456056)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	plcl1	ENSDARG00000067676
mus_musculus	Plcl1	ENSMUSG00000038349
rattus_norvegicus	Plcl1	ENSRNOG00000032659
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), PLCG1 (ENSG00000124181), PLCB2 (ENSG00000137841), PLCE1 (ENSG00000138193), PLCZ1 (ENSG00000139151), PLCH2 (ENSG00000149527), PLCB3 (ENSG00000149782), PLCL2 (ENSG00000154822), PLCD3 (ENSG00000161714), PLCB1 (ENSG00000182621), PLCD1 (ENSG00000187091), PLCG2 (ENSG00000197943)

Protein

Protein identifiers

Inactive phospholipase C-like protein 1 — Q15111 (reviewed: Q15111)

Alternative names: Phospholipase C-deleted in lung carcinoma, Phospholipase C-related but catalytically inactive protein

All UniProt accessions (3): Q15111, F8WAR2, H3BUD4

UniProt curated annotations — full annotation on UniProt →

Function. Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor. Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C.

Subunit / interactions. Interacts with PPP2CA. Interacts with Ins(1,4,5)P3, Ins(1,4,5,6)P4, GABARAP, GABA receptor beta subunits, GABA receptor gamma-2 subunits and PPP1C. May form a ternary complex with GABA receptor beta subunit and GABARAP. The formation of a ternary complex with GABA receptor beta subunit and GABARAP could be the key step for facilitating the association of GABARAP with the GABA receptor gamma-2 subunit and to allow it to be transported at the right destination.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in a variety of fetal and adult organs including brain, lung and kidney. Its expression was greatly reduced in small and non-small cell lung carcinoma. Isoform 1 is predominantly expressed in brain.

Post-translational modifications. Phosphorylated by the catalytic subunit of PKA. Phosphorylation of Thr-93 resulted in dissociation of PPP1C from PRIP1.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15111-1	1	yes
Q15111-2	2

RefSeq proteins (1): NP_006217* (*=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
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168, PF00387, PF00388, PF09279, PF16457

Enzyme classification (BRENDA):

• EC 2.7.11.10 — IkappaB kinase (BRENDA: 7 organisms, 122 substrates, 335 inhibitors, 1 Km, 0 kcat entries)

UniProt features (29 total): modified residue 7, sequence variant 6, domain 4, region of interest 4, coiled-coil region 2, compositionally biased region 2, sequence conflict 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15111-F1	82.49	0.59

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 (7): 47, 77, 93, 95, 556, 569, 1079

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 237 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_PR_DN, BROWNE_HCMV_INFECTION_8HR_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, MCLACHLAN_DENTAL_CARIES_DN, GOBP_MAINTENANCE_OF_LOCATION

GO Biological Process (10): gamma-aminobutyric acid signaling pathway (GO:0007214), regulation of synaptic transmission, GABAergic (GO:0032228), intracellular signal transduction (GO:0035556), phosphatidylinositol metabolic process (GO:0046488), phosphatidylinositol-mediated signaling (GO:0048015), 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)

GO Molecular Function (4): phosphatidylinositol-4,5-bisphosphate phospholipase C activity (GO:0004435), C-type glycerophospholipase activity (GO:0004629), 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
cell-cell signaling	1
GABA receptor activity	1
modulation of chemical synaptic transmission	1
synaptic transmission, GABAergic	1
signal transduction	1
phosphorus metabolic process	1
intracellular signal transduction	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
C-type glycerophospholipase activity	1
glycerophospholipase activity	1
phosphoric diester hydrolase activity	1
phosphoric ester hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLCL1	RFTN2	Q52LD8	490
PLCL1	BOLL	Q8N9W6	420
PLCL1	CBL	P22681	399
PLCL1	ANKRD44	Q8N8A2	379
PLCL1	A6NDT3	A6NDT3	364
PLCL1	FAM185A	Q8N0U4	358
PLCL1	BLK	P51451	352
PLCL1	CCDC15	Q0P6D6	348
PLCL1	SYT14	Q8NB59	332
PLCL1	OAZ2	O95190	322
PLCL1	ITK	Q08881	303
PLCL1	ROPN1L	Q96C74	303
PLCL1	NOL4	O94818	288
PLCL1	FAM227A	F5H4B4	271
PLCL1	SATB2	Q9UPW6	267

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PLCL1	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
PLCL1	KIN	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (9): PLCL1 (Proximity Label-MS), PLCL1 (Proximity Label-MS), PLCL1 (Proximity Label-MS), PLCL1 (Negative Genetic), PLCZ1 (Negative Genetic), PLCL1 (Affinity Capture-MS), PDIA3 (Cross-Linking-MS (XL-MS)), PLCL1 (Affinity Capture-MS), PLCL1 (Proximity Label-MS)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	134
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2799 predictions. Top by Δscore:

Variant	Effect	Δscore
2:197805336:CAAGG:C	donor_loss	1.0000
2:197805340:GTAA:G	donor_loss	1.0000
2:197819977:A:AG	acceptor_gain	1.0000
2:198083756:A:AC	acceptor_loss	1.0000
2:198083756:A:AG	acceptor_gain	1.0000
2:198083756:AG:A	acceptor_gain	1.0000
2:198083757:G:GT	acceptor_gain	1.0000
2:198083757:GG:G	acceptor_gain	1.0000
2:198083757:GGAT:G	acceptor_gain	1.0000
2:198083757:GGATC:G	acceptor_gain	1.0000
2:198101274:T:G	acceptor_gain	1.0000
2:198101277:T:TA	acceptor_gain	1.0000
2:198101280:A:AG	acceptor_gain	1.0000
2:198101281:A:G	acceptor_gain	1.0000
2:198101281:ACAGA:A	acceptor_loss	1.0000
2:198101282:CAGA:C	acceptor_loss	1.0000
2:198101283:A:AG	acceptor_gain	1.0000
2:198101283:A:AT	acceptor_loss	1.0000
2:198101284:G:GG	acceptor_gain	1.0000
2:198101284:GAT:G	acceptor_gain	1.0000
2:198101357:GCAG:G	donor_gain	1.0000
2:198101358:CAGG:C	donor_loss	1.0000
2:198101359:AGGT:A	donor_loss	1.0000
2:198101361:G:GG	donor_gain	1.0000
2:198101362:T:G	donor_loss	1.0000
2:198103821:TCAAA:T	acceptor_loss	1.0000
2:198103822:CAAAG:C	acceptor_loss	1.0000
2:198103823:AAAG:A	acceptor_gain	1.0000
2:198103823:AAAGG:A	acceptor_gain	1.0000
2:198103824:AAGGG:A	acceptor_loss	1.0000

AlphaMissense

7306 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:198083803:T:C	F96L	1.000
2:198083805:C:A	F96L	1.000
2:198083805:C:G	F96L	1.000
2:198083914:C:A	R133S	1.000
2:198083915:G:C	R133P	1.000
2:198083953:T:A	W146R	1.000
2:198083953:T:C	W146R	1.000
2:198083954:G:C	W146S	1.000
2:198083955:G:C	W146C	1.000
2:198083955:G:T	W146C	1.000
2:198084125:T:C	L203P	1.000
2:198084157:T:A	W214R	1.000
2:198084157:T:C	W214R	1.000
2:198083798:T:A	V94E	0.999
2:198083870:G:A	G118D	0.999
2:198083884:A:C	K123Q	0.999
2:198083884:A:G	K123E	0.999
2:198083886:A:C	K123N	0.999
2:198083886:A:T	K123N	0.999
2:198083914:C:G	R133G	0.999
2:198083921:T:C	F135S	0.999
2:198084088:T:C	S191P	0.999
2:198084119:T:C	L201P	0.999
2:198084166:G:T	G217W	0.999
2:198084167:G:A	G217E	0.999
2:198084425:T:C	F303S	0.999
2:198084521:T:C	L335P	0.999
2:198085476:C:A	N653K	0.999
2:198085476:C:G	N653K	0.999
2:198085706:G:A	G730D	0.999

dbSNP variants (sampled 300 via entrez): RS1000002221 (2:198073976 A>T), RS1000011285 (2:197935907 G>A,T), RS1000018593 (2:198087109 A>G), RS1000028944 (2:198001655 A>G), RS1000035154 (2:198150292 C>A), RS1000042014 (2:198112035 A>G), RS1000044101 (2:197862975 C>T), RS1000072642 (2:197839838 TA>T), RS1000086705 (2:198036046 A>G), RS1000091649 (2:198023057 A>G), RS1000098251 (2:197856055 G>A), RS1000109399 (2:197833488 C>A), RS1000115918 (2:198058362 C>G,T), RS1000117694 (2:197869201 A>G), RS1000118629 (2:197810155 G>A)

Disease associations

OMIM: gene MIM:600597 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

63 associations (top):

Study	Trait	p-value
GCST000229_1	Hip bone size	2.000000e-06
GCST000262_1	Intracranial aneurysm	4.000000e-08
GCST000636_2	Brain cytoarchitecture	2.000000e-06
GCST000879_58	Crohn’s disease	4.000000e-09
GCST000880_39	Menarche (age at onset)	6.000000e-13
GCST001059_4	Neutrophil count	6.000000e-06
GCST001728_23	Ulcerative colitis	3.000000e-08
GCST002045_4	Educational attainment	2.000000e-07
GCST002065_12	Alcohol consumption	4.000000e-06
GCST002083_13	Self-reported allergy	6.000000e-10
GCST002151_1	Dermatomyositis	6.000000e-06
GCST002539_41	Schizophrenia	2.000000e-11
GCST003391_2	Low high density lipoprotein cholesterol levels	5.000000e-09
GCST003429_40	Morning vs. evening chronotype	1.000000e-10
GCST003470_1	Coronary artery disease	2.000000e-10
GCST003989_12	Chin dimples	7.000000e-20
GCST003990_16	Allergy	2.000000e-10
GCST003993_39	Menarche (age at onset)	1.000000e-09
GCST004132_35	Crohn’s disease	7.000000e-08
GCST004521_180	Autism spectrum disorder or schizophrenia	3.000000e-11
GCST004521_275	Autism spectrum disorder or schizophrenia	7.000000e-09
GCST005038_23	Allergic disease (asthma, hay fever or eczema)	5.000000e-12
GCST005348_162	Total body bone mineral density	3.000000e-08
GCST005752_175	Systemic lupus erythematosus	2.000000e-07
GCST006409_44	Allergic rhinitis	4.000000e-14
GCST006803_21	Schizophrenia	4.000000e-13
GCST007201_227	Schizophrenia	6.000000e-09
GCST007293_117	Body fat distribution (arm fat ratio)	1.000000e-06
GCST007293_18	Body fat distribution (arm fat ratio)	2.000000e-07
GCST007293_44	Body fat distribution (arm fat ratio)	8.000000e-11

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0006913	prefrontal cortex cytoarchtiectural measurement
EFO:0004703	age at menarche
EFO:0004833	neutrophil count
EFO:0004784	self reported educational attainment
EFO:0004329	alcohol drinking
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004341	body fat distribution
EFO:0008328	chronotype measurement
EFO:0008475	mood instability measurement
EFO:0009282	sodium measurement
EFO:0010554	retinal vasculature measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004327	electrocardiography
EFO:0010729	sun exposure measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass
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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Aflatoxin B1	affects expression, decreases expression	2
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
clothianidin	decreases expression	1
bisphenol S	increases methylation	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Hexachlorocyclohexane	increases expression	1
Fluoxetine	increases expression	1
Folic Acid	decreases expression	1
Prednisolone	increases expression	1
Smoke	increases expression	1
Thiram	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	decreases expression	1
Asbestos, Amphibole	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Sirolimus	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder