PRR5L

Summary

PRR5L (proline rich 5 like, HGNC:25878) is a protein-coding gene on chromosome 11p13-p12, encoding Proline-rich protein 5-like (Q6MZQ0). Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton.

Enables ubiquitin protein ligase binding activity. Involved in several processes, including TORC2 signaling; regulation of fibroblast migration; and regulation of primary metabolic process. Part of TORC2 complex.

Source: NCBI Gene 79899 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 78 total
• MANE Select transcript: NM_001160167

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25878
Approved symbol	PRR5L
Name	proline rich 5 like
Location	11p13-p12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14213, PROTOR-2
Ensembl gene	ENSG00000135362
Ensembl biotype	protein_coding
OMIM	611728
Entrez	79899

Gene structure

Transcript identifiers

Ensembl transcripts: 78 — 69 protein_coding, 9 protein_coding_CDS_not_defined

ENST00000378867, ENST00000389693, ENST00000524380, ENST00000525672, ENST00000526679, ENST00000526682, ENST00000526728, ENST00000527172, ENST00000527487, ENST00000527751, ENST00000529020, ENST00000529034, ENST00000530050, ENST00000530252, ENST00000530627, ENST00000530639, ENST00000531269, ENST00000532121, ENST00000532578, ENST00000532843, ENST00000869181, ENST00000869182, ENST00000869183, ENST00000869184, ENST00000869185, ENST00000869186, ENST00000869187, ENST00000869188, ENST00000869189, ENST00000869190, ENST00000869191, ENST00000869192, ENST00000869193, ENST00000869194, ENST00000869195, ENST00000869196, ENST00000869197, ENST00000869198, ENST00000869199, ENST00000869200, ENST00000869201, ENST00000869202, ENST00000869203, ENST00000869204, ENST00000869205, ENST00000869206, ENST00000869207, ENST00000869208, ENST00000869209, ENST00000869210, ENST00000869211, ENST00000869212, ENST00000869213, ENST00000869214, ENST00000869215, ENST00000869216, ENST00000869217, ENST00000869218, ENST00000869219, ENST00000869220, ENST00000869221, ENST00000869222, ENST00000869223, ENST00000869224, ENST00000869225, ENST00000869226, ENST00000869227, ENST00000869229, ENST00000869230, ENST00000869232, ENST00000869234, ENST00000869236, ENST00000869239, ENST00000869241, ENST00000869243, ENST00000925369, ENST00000942127, ENST00000942128

RefSeq mRNA: 4 — MANE Select: NM_001160167 NM_001160167, NM_001160168, NM_001160169, NM_024841

CCDS: CCDS31463, CCDS53617

Canonical transcript exons

ENST00000530639 — 9 exons

Exon	Start	End
ENSE00001479111	36446300	36446440
ENSE00002180775	36462342	36465204
ENSE00002188887	36296288	36296438
ENSE00003474679	36419255	36419303
ENSE00003520828	36431853	36431910
ENSE00003535422	36400997	36401285
ENSE00003553342	36403298	36403378
ENSE00003653321	36437385	36437476
ENSE00003679820	36451209	36451335

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 96.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5846 / max 172.0901, expressed in 1048 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113896	2.4091	855
113897	0.9959	404
113891	0.6424	67
113894	0.1687	76
113902	0.1262	45
113898	0.0857	39
113890	0.0660	43
113892	0.0548	32
113895	0.0358	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.59	gold quality
granulocyte	CL:0000094	96.07	gold quality
rectum	UBERON:0001052	95.00	gold quality
spleen	UBERON:0002106	92.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.72	gold quality
spinal cord	UBERON:0002240	89.94	gold quality
secondary oocyte	CL:0000655	89.55	gold quality
transverse colon	UBERON:0001157	89.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.20	gold quality
leukocyte	CL:0000738	87.46	gold quality
colonic mucosa	UBERON:0000317	87.32	gold quality
corpus callosum	UBERON:0002336	87.22	gold quality
monocyte	CL:0000576	86.93	gold quality
mononuclear cell	CL:0000842	86.73	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.35	gold quality
colonic epithelium	UBERON:0000397	85.89	gold quality
left ovary	UBERON:0002119	84.85	gold quality
oocyte	CL:0000023	84.61	gold quality
blood	UBERON:0000178	83.94	gold quality
right ovary	UBERON:0002118	83.35	gold quality
upper lobe of left lung	UBERON:0008952	82.95	gold quality
metanephros cortex	UBERON:0010533	82.65	gold quality
gall bladder	UBERON:0002110	82.26	gold quality
stromal cell of endometrium	CL:0002255	81.94	gold quality
vermiform appendix	UBERON:0001154	81.93	gold quality
upper lobe of lung	UBERON:0008948	81.76	gold quality
small intestine Peyer’s patch	UBERON:0003454	81.42	gold quality
ovary	UBERON:0000992	80.40	gold quality
large intestine	UBERON:0000059	80.28	gold quality
right lung	UBERON:0002167	80.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	751.94
E-ANND-3	yes	4.77

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RUNX1

miRNA regulators (miRDB)

87 targeting PRR5L, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4306	99.72	70.50	3630

Literature-anchored findings (GeneRIF, showing 2)

• It was demonstrated that immunoprecipitation of Protor-1 or Protor-2 results in the co-immunoprecipitation of other mTORC2 subunits, but not Raptor, a specific component of mTORC1. (PMID:17461779)
• Protor-2 associates with tristetraprolin (TTP) to accelerate TTP-mediated mRNA turnover and functionally links the control of TTP-regulated mRNA stability to mTORC2 activity (PMID:21964062)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	prr5l	ENSDARG00000029431
danio_rerio	si:dkey-56p7.10	ENSDARG00000105788
mus_musculus	Prr5l	ENSMUSG00000032841
rattus_norvegicus	Prr5l	ENSRNOG00000004666

Paralogs (1): PRR5 (ENSG00000186654)

Protein

Protein identifiers

Proline-rich protein 5-like — Q6MZQ0 (reviewed: Q6MZQ0)

Alternative names: Protein observed with Rictor-2

All UniProt accessions (8): E9PIU0, E9PJV4, E9PL62, E9PLJ6, E9PP25, E9PP62, Q6MZQ0, E9PS02

UniProt curated annotations — full annotation on UniProt →

Function. Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton. Regulates the activity of the mTORC2 complex in a substrate-specific manner preventing for instance the specific phosphorylation of PKCs and thereby controlling cell migration. Plays a role in the stimulation of ZFP36-mediated mRNA decay of several ZFP36-associated mRNAs, such as TNF and GM-CSF, in response to stress. Required for ZFP36 localization to cytoplasmic stress granule (SG) and P-body (PB) in response to stress.

Subunit / interactions. Interacts with the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Interacts with RFFL. Interacts (via C-terminus) with ZFP36 (via C-terminus); this interaction may accelerate ZFP36-mediated mRNA decay during stress. Interacts with RICTOR.

Post-translational modifications. Ubiquitinated. Ubiquitination by RFFL promotes proteasomal degradation of PRR5L thereby modifying the substrate-specific activity of the mTORC2 complex. Ubiquitination by RFFL is stimulated by LPA/lysophosphatidic acid.

Similarity. Belongs to the PROTOR family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6MZQ0-1	1	yes
Q6MZQ0-2	2
Q6MZQ0-3	3
Q6MZQ0-4	4

RefSeq proteins (4): NP_001153639, NP_001153640, NP_001153641, NP_079117 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013745	Bit61/PRR5	Family

Pfam: PF08539

UniProt features (15 total): splice variant 7, sequence variant 2, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6MZQ0-F1	68.40	0.34

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): 28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_FIBROBLAST_MIGRATION, RACCACAR_AML_Q6, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION

GO Biological Process (9): negative regulation of protein phosphorylation (GO:0001933), negative regulation of signal transduction (GO:0009968), regulation of fibroblast migration (GO:0010762), cellular response to oxidative stress (GO:0034599), TORC2 signaling (GO:0038203), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), positive regulation of mRNA catabolic process (GO:0061014), positive regulation of intracellular protein transport (GO:0090316)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (1): TORC2 complex (GO:0031932)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of protein phosphorylation	1
protein phosphorylation	1
negative regulation of protein modification process	1
negative regulation of phosphorylation	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
fibroblast migration	1
regulation of cell migration	1
response to oxidative stress	1
cellular response to chemical stress	1
TOR signaling	1
intracellular signaling cassette	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	1
mRNA catabolic process	1
positive regulation of catabolic process	1
regulation of mRNA catabolic process	1
positive regulation of mRNA metabolic process	1
intracellular protein transport	1
positive regulation of intracellular transport	1
regulation of intracellular protein transport	1
positive regulation of protein transport	1
ubiquitin-like protein ligase binding	1
binding	1
TOR complex	1

Protein interactions and networks

STRING

576 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR5L	RICTOR	Q6R327	998
PRR5L	MAPKAP1	Q9BPZ7	997
PRR5L	MLST8	Q9BVC4	989
PRR5L	DEPTOR	Q8TB45	963
PRR5L	PRR5	P85299	917
PRR5L	MTOR	P42345	902
PRR5L	ARHGAP8	P85298	550
PRR5L	RPTOR	Q8N122	428
PRR5L	AKT1S1	Q96B36	400
PRR5L	ACTL9	Q8TC94	370
PRR5L	SGK1	O00141	342
PRR5L	DQX1	Q8TE96	321
PRR5L	C11orf91	Q3C1V1	318
PRR5L	PHLPP2	Q6ZVD8	310
PRR5L	LONRF2	Q1L5Z9	307

IntAct

47 interactions, top by confidence:

A	B	Type	Score
MISP	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
MAD2L2	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	CCDC91	psi-mi:“MI:0915”(physical association)	0.560
FHL3	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	PHAF1	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
KANK2	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	MISP	psi-mi:“MI:0915”(physical association)	0.560
USP2	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	ZMYND12	psi-mi:“MI:0915”(physical association)	0.560
EFHC1	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
MLH1	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
FHL2	PRR5L	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	MORN3	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	MAD2L2	psi-mi:“MI:0915”(physical association)	0.560
PRR5L	MTOR	psi-mi:“MI:0914”(association)	0.350
PLEKHM1	STX7	psi-mi:“MI:0914”(association)	0.350
SUPV3L1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
PRR5L	CCDC91	psi-mi:“MI:0915”(physical association)	0.000
PRR5L	FHL3	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	PRR5L	psi-mi:“MI:0915”(physical association)	0.000
SCNM1	PRR5L	psi-mi:“MI:0915”(physical association)	0.000
KANK2	PRR5L	psi-mi:“MI:0915”(physical association)	0.000
USP2	PRR5L	psi-mi:“MI:0915”(physical association)	0.000
PRR5L	ZMYND12	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): PRR5L (Affinity Capture-Western), PRR5L (Affinity Capture-Western), MTOR (Affinity Capture-Western), RICTOR (Affinity Capture-Western), MAPKAP1 (Affinity Capture-Western), PRR5L (Biochemical Activity), PRR5L (Two-hybrid), PRR5L (Affinity Capture-Western), ZFP36 (Affinity Capture-Western), PRR5L (Affinity Capture-Western), PRR5L (Affinity Capture-MS), PRR5L (Affinity Capture-RNA), PRR5L (Two-hybrid), PRR5L (Two-hybrid), PRR5L (Two-hybrid)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A0JMA8, A1A535, A1A5P5, A1L1K1, A2AVJ5, A7YDW0, B3MJV4, B4MV81, O00443, O08576, O17237, Q0V9V7, Q12923, Q14D04, Q17QK1, Q1LYM3, Q2NKQ1, Q3UGY8, Q59EK9, Q5EB20, Q5JWR5, Q5PQS3, Q5R565, Q5RAY1, Q5TH69, Q5U245, Q5U3W3, Q5XHG1, Q61194, Q61QK6, Q64512, Q6ING4, Q6MZQ0, Q6ZUJ8, Q7Z3E5, Q803Q4, Q80U12, Q8BPQ7

Diamond homologs: A1L1K1, A2AVJ5, P85299, Q5E9R0, Q5FVG6, Q6MZQ0, Q812A5, Q8AVJ1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RFFL	“down-regulates quantity by destabilization”	PRR5L	polyubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2924 predictions. Top by Δscore:

Variant	Effect	Δscore
11:36394007:GAACT:G	donor_gain	1.0000
11:36403293:TGTA:T	acceptor_loss	1.0000
11:36403294:GTA:G	acceptor_loss	1.0000
11:36403295:TAG:T	acceptor_loss	1.0000
11:36403296:A:AG	acceptor_gain	1.0000
11:36403297:G:A	acceptor_loss	1.0000
11:36403297:G:GG	acceptor_gain	1.0000
11:36403297:GC:G	acceptor_gain	1.0000
11:36403379:G:A	donor_loss	1.0000
11:36403380:T:A	donor_loss	1.0000
11:36419301:CAGGT:C	donor_loss	1.0000
11:36419302:AGGT:A	donor_loss	1.0000
11:36419304:G:GA	donor_loss	1.0000
11:36419305:T:G	donor_loss	1.0000
11:36446296:CTA:C	acceptor_loss	1.0000
11:36446297:TA:T	acceptor_loss	1.0000
11:36446298:A:T	acceptor_loss	1.0000
11:36446298:AG:A	acceptor_gain	1.0000
11:36446299:GG:G	acceptor_gain	1.0000
11:36462340:A:AG	acceptor_gain	1.0000
11:36462341:G:GG	acceptor_gain	1.0000
11:36462341:GCC:G	acceptor_gain	1.0000
11:36462341:GCCA:G	acceptor_gain	1.0000
11:36296436:CAGGT:C	donor_loss	0.9900
11:36296437:AG:A	donor_loss	0.9900
11:36296438:GG:G	donor_loss	0.9900
11:36296440:T:G	donor_loss	0.9900
11:36297347:AAAT:A	acceptor_gain	0.9900
11:36329248:GTTCT:G	donor_gain	0.9900
11:36394012:G:GG	donor_gain	0.9900

AlphaMissense

2388 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:36437417:T:A	W129R	0.999
11:36437417:T:C	W129R	0.999
11:36437451:T:C	L140P	0.999
11:36403300:T:A	V56D	0.998
11:36437460:T:A	I143K	0.998
11:36446331:T:C	L159P	0.998
11:36446340:T:C	F162S	0.998
11:36403324:T:C	F64S	0.997
11:36437456:G:C	A142P	0.997
11:36446343:G:C	R163P	0.997
11:36446436:T:C	L194P	0.997
11:36401278:T:A	W53R	0.996
11:36401278:T:C	W53R	0.996
11:36419260:T:C	L84P	0.996
11:36437442:T:C	L137P	0.996
11:36437460:T:G	I143R	0.996
11:36403363:T:C	L77P	0.995
11:36403312:T:A	V60E	0.994
11:36431871:G:A	G105R	0.994
11:36431871:G:C	G105R	0.994
11:36446352:T:A	V166D	0.994
11:36403308:G:C	A59P	0.993
11:36403323:T:C	F64L	0.993
11:36403325:C:A	F64L	0.993
11:36403325:C:G	F64L	0.993
11:36403339:T:C	L69S	0.993
11:36437419:G:C	W129C	0.993
11:36437419:G:T	W129C	0.993
11:36437451:T:G	L140R	0.993
11:36446339:T:C	F162L	0.993

dbSNP variants (sampled 300 via entrez): RS1000024820 (11:36427670 C>T), RS1000026773 (11:36387930 G>C), RS1000033104 (11:36341600 A>G), RS1000047848 (11:36410881 G>C), RS1000065678 (11:36347372 C>A), RS1000076045 (11:36305746 G>T), RS1000107877 (11:36464098 C>T), RS1000133122 (11:36421606 C>T), RS1000141845 (11:36367650 C>G,T), RS1000153635 (11:36407164 C>T), RS1000176085 (11:36309990 C>T), RS1000198296 (11:36398362 C>T), RS1000227462 (11:36421879 A>G), RS1000240727 (11:36307482 G>A), RS1000242424 (11:36376363 G>A,T)

Disease associations

OMIM: gene MIM:611728 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST002740_34	Inflammatory skin disease	2.000000e-06
GCST003184_40	Atopic dermatitis	9.000000e-07
GCST003992_50	Photic sneeze reflex	2.000000e-11
GCST005528_29	Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)	2.000000e-08
GCST005531_75	Multiple sclerosis	7.000000e-06
GCST006051_7	Idiopathic inflammatory myopathy	9.000000e-06
GCST007732_18	Allergic disease (asthma, hay fever or eczema)	3.000000e-06
GCST007798_128	Asthma	6.000000e-12
GCST007800_103	Asthma (childhood onset)	3.000000e-13
GCST008916_80	Asthma	8.000000e-09
GCST009597_139	Multiple sclerosis	4.000000e-08
GCST009720_51	Asthma	2.000000e-09
GCST010042_54	Asthma	4.000000e-09
GCST010043_47	Asthma	3.000000e-08
GCST010090_7	Atopic dermatitis	8.000000e-13
GCST90002392_568	Mean corpuscular volume	4.000000e-09
GCST90002403_200	Red blood cell count	5.000000e-09
GCST90020024_377	A body shape index	4.000000e-08
GCST90020024_378	A body shape index	2.000000e-08
GCST90020025_931	Waist-to-hip ratio adjusted for BMI	1.000000e-15
GCST90020025_932	Waist-to-hip ratio adjusted for BMI	5.000000e-08
GCST90020025_933	Waist-to-hip ratio adjusted for BMI	6.000000e-14
GCST90020025_934	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST90020026_789	Hip index	4.000000e-09
GCST90020027_1456	Waist-hip index	7.000000e-16
GCST90020027_1457	Waist-hip index	2.000000e-08
GCST90020027_1458	Waist-hip index	3.000000e-14
GCST90020027_1459	Waist-hip index	3.000000e-08
GCST90020029_308	Waist circumference adjusted for body mass index	3.000000e-09
GCST90020029_309	Waist circumference adjusted for body mass index	5.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0004305	erythrocyte count
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Particulate Matter	affects cotreatment, decreases expression, decreases reaction, increases abundance	3
sodium arsenite	affects expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
Vorinostat	affects cotreatment, decreases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, increases oxidation, decreases expression	2
Arsenic	increases abundance, increases expression, affects methylation	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases methylation	2
Estradiol	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
sotorasib	affects cotreatment, decreases expression	1
TL8-506	affects cotreatment, increases expression	1
methyleugenol	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
bisphenol A	decreases methylation	1
deoxynivalenol	decreases expression	1
sodium arsenate	increases abundance, increases expression	1
trichostatin A	decreases expression	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
rutecarpine	decreases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases oxidation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
clothianidin	increases expression	1
abrine	decreases expression	1

Clinical trials (associated diseases)

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