RPH3AL

Summary

RPH3AL (rabphilin 3A like (without C2 domains), HGNC:10296) is a protein-coding gene on chromosome 17p13.3, encoding Rab effector Noc2 (Q9UNE2). Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells.

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 9501 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_006987

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10296
Approved symbol	RPH3AL
Name	rabphilin 3A like (without C2 domains)
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Noc2
Ensembl gene	ENSG00000181031
Ensembl biotype	protein_coding
OMIM	604881
Entrez	9501

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 45 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000323434, ENST00000331302, ENST00000536489, ENST00000570638, ENST00000570893, ENST00000570954, ENST00000572075, ENST00000572866, ENST00000572965, ENST00000573448, ENST00000573588, ENST00000573780, ENST00000574011, ENST00000574722, ENST00000574953, ENST00000575130, ENST00000575634, ENST00000575736, ENST00000576001, ENST00000576420, ENST00000577079, ENST00000618002, ENST00000907489, ENST00000907490, ENST00000907491, ENST00000907492, ENST00000907493, ENST00000907494, ENST00000907495, ENST00000907496, ENST00000907497, ENST00000907498, ENST00000907499, ENST00000907500, ENST00000907501, ENST00000907502, ENST00000907503, ENST00000913661, ENST00000953551, ENST00000953552, ENST00000953553, ENST00000953554, ENST00000953555, ENST00000953556, ENST00000953557, ENST00000953558, ENST00000953559, ENST00000953560, ENST00000953561, ENST00000953562, ENST00000953563, ENST00000953564

RefSeq mRNA: 4 — MANE Select: NM_006987 NM_001190411, NM_001190412, NM_001190413, NM_006987

CCDS: CCDS10994, CCDS54059

Canonical transcript exons

ENST00000331302 — 10 exons

Exon	Start	End
ENSE00001225981	319420	319549
ENSE00001298844	321272	321415
ENSE00001306411	333759	333934
ENSE00001391777	327467	327579
ENSE00002305507	352712	352807
ENSE00003480845	219623	219736
ENSE00003499694	215654	215802
ENSE00003648706	247111	247285
ENSE00003664730	281768	281854
ENSE00003747991	212389	213923

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 94.03.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7666 / max 177.9095, expressed in 540 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163601	1.3572	471
163598	0.1680	21
163596	0.1272	53
163599	0.0796	4
163600	0.0347	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	94.03	gold quality
adenohypophysis	UBERON:0002196	91.63	gold quality
pancreas	UBERON:0001264	91.48	gold quality
islet of Langerhans	UBERON:0000006	89.98	gold quality
pituitary gland	UBERON:0000007	89.44	gold quality
right adrenal gland	UBERON:0001233	88.33	gold quality
left adrenal gland cortex	UBERON:0035825	87.12	gold quality
sural nerve	UBERON:0015488	87.03	gold quality
left adrenal gland	UBERON:0001234	86.77	gold quality
right adrenal gland cortex	UBERON:0035827	86.67	gold quality
right lobe of liver	UBERON:0001114	86.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.08	gold quality
adrenal gland	UBERON:0002369	84.19	gold quality
metanephros cortex	UBERON:0010533	83.93	gold quality
adrenal cortex	UBERON:0001235	83.79	gold quality
right lobe of thyroid gland	UBERON:0001119	83.78	gold quality
left lobe of thyroid gland	UBERON:0001120	83.53	gold quality
upper lobe of left lung	UBERON:0008952	83.24	gold quality
spleen	UBERON:0002106	83.21	gold quality
apex of heart	UBERON:0002098	82.52	gold quality
body of stomach	UBERON:0001161	82.08	gold quality
thyroid gland	UBERON:0002046	81.96	gold quality
omental fat pad	UBERON:0010414	81.83	gold quality
peritoneum	UBERON:0002358	81.72	gold quality
upper lobe of lung	UBERON:0008948	81.53	gold quality
left ovary	UBERON:0002119	81.31	gold quality
muscle of leg	UBERON:0001383	81.17	gold quality
gastrocnemius	UBERON:0001388	81.14	gold quality
gall bladder	UBERON:0002110	80.17	gold quality
mucosa of transverse colon	UBERON:0004991	80.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

64 targeting RPH3AL, 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-4455	100.00	65.48	1587
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-30B-3P	99.70	65.76	2325

Literature-anchored findings (GeneRIF, showing 3)

• Mutations of rabphillin-3A-like gene is associated with colorectal cancers (PMID:12375017)
• Noc2 may function as a Rab3B effector protein in epithelial cells. (PMID:15003533)
• genetic alterations in RPH3AL are associated with aggressive behavior of breast cancers and with short survival of patients. (PMID:26070152)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rph3al	ENSMUSG00000020847
rattus_norvegicus	Rph3al	ENSRNOG00000061429
drosophila_melanogaster	Rph	FBGN0030230

Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT14 (ENSG00000143469), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), C2CD4C (ENSG00000183186), C2CD4A (ENSG00000198535), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)

Protein

Protein identifiers

Rab effector Noc2 — Q9UNE2 (reviewed: Q9UNE2)

Alternative names: No C2 domains protein, Rabphilin-3A-like protein

All UniProt accessions (12): Q9UNE2, I3L181, I3L1Q0, I3L2G8, I3L2I9, I3L2N0, I3L2W0, I3L2X0, I3L308, I3L349, I3L3M9, I3NI49

UniProt curated annotations — full annotation on UniProt →

Function. Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells. Acts as a potential RAB3B effector protein in epithelial cells.

Subunit / interactions. Recruited to dense-core vesicles through specific interaction with RAB27A in endocrine cells. Interacts with RAB3A, RAB3B, RAB3C and RAB3D. Interacts with ZYX.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Secretory vesicle membrane.

Tissue specificity. Moderate to high levels of expression in thyroid, ovary, stomach, heart, pancreas, skeletal muscle, kidney and liver. Also detected in epithelial cells.

Domain organisation. The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UNE2-1	1	yes
Q9UNE2-2	2

RefSeq proteins (4): NP_001177340, NP_001177341, NP_001177342, NP_008918* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010911	Rab_BD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR041282	FYVE_2	Domain
IPR041857	Noc2_FYVE	Domain
IPR043566	Rabphilin/DOC2/Noc2	Family

Pfam: PF02318

UniProt features (18 total): binding site 8, compositionally biased region 4, chain 1, domain 1, splice variant 1, sequence conflict 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UNE2-F1	68.57	0.35

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 112; 115; 120; 123; 138; 141; 95; 98

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 158 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_REGULATION_OF_VESICLE_FUSION, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_INSULIN_SECRETION, GOBP_MEMBRANE_FUSION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION

GO Biological Process (9): intracellular protein transport (GO:0006886), exocytosis (GO:0006887), G protein-coupled receptor signaling pathway (GO:0007186), positive regulation of insulin secretion (GO:0032024), glucose homeostasis (GO:0042593), negative regulation of G protein-coupled receptor signaling pathway (GO:0045744), positive regulation of calcium ion-dependent exocytosis (GO:0045956), calcium-dependent activation of synaptic vesicle fusion (GO:0099502), regulation of calcium ion-dependent exocytosis (GO:0017158)

GO Molecular Function (5): cytoskeletal protein binding (GO:0008092), zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): cytoplasm (GO:0005737), transport vesicle membrane (GO:0030658), synapse (GO:0045202), presynapse (GO:0098793), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
calcium-ion regulated exocytosis	2
intracellular protein localization	1
protein transport	1
intracellular transport	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
G protein-coupled receptor activity	1
signal transduction	1
insulin secretion	1
positive regulation of protein secretion	1
regulation of insulin secretion	1
positive regulation of peptide hormone secretion	1
carbohydrate homeostasis	1
G protein-coupled receptor signaling pathway	1
regulation of G protein-coupled receptor signaling pathway	1
negative regulation of signal transduction	1
regulation of calcium ion-dependent exocytosis	1
positive regulation of regulated secretory pathway	1
synaptic vesicle exocytosis	1
positive regulation of synaptic vesicle fusion to presynaptic active zone membrane	1
regulation of regulated secretory pathway	1
protein binding	1
transition metal ion binding	1
GTPase binding	1
binding	1
cation binding	1
intracellular anatomical structure	1
transport vesicle	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
cell junction	1
synapse	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPH3AL	RAB3A	P20336	895
RPH3AL	WTIP	A6NIX2	837
RPH3AL	RAB27A	P51159	787
RPH3AL	LIMD1	Q9UGP4	783
RPH3AL	RAB8A	P24407	747
RPH3AL	AJUBA	Q96IF1	737
RPH3AL	CEBPZ	Q03701	655
RPH3AL	PDCD11	Q14690	604
RPH3AL	ZYX	Q15942	556
RPH3AL	SYTL1	Q8IYJ3	536
RPH3AL	SYTL2	Q9HCH5	532
RPH3AL	GEMIN4	P57678	518
RPH3AL	CCDC83	Q8IWF9	510
RPH3AL	VPS53	Q5VIR6	509
RPH3AL	RAB3D	O95716	477

IntAct

46 interactions, top by confidence:

A	B	Type	Score
RPH3AL	MID2	psi-mi:“MI:0915”(physical association)	0.560
MID2	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
PSME3	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS3	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
PNMA3	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
HNRNPK	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
SCNM1	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
AIRIM	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
RAB27B	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
RPH3AL	ANKRD11	psi-mi:“MI:0915”(physical association)	0.560
RSPH14	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
ATPAF2	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	RPH3AL	psi-mi:“MI:0915”(physical association)	0.560
RPH3AL	TCEA3	psi-mi:“MI:0915”(physical association)	0.370
RAB27A	GTPBP1	psi-mi:“MI:0914”(association)	0.350
RPH3AL	PSME3	psi-mi:“MI:0915”(physical association)	0.000
RPH3AL	KHDRBS3	psi-mi:“MI:0915”(physical association)	0.000
RPH3AL	PNMA3	psi-mi:“MI:0915”(physical association)	0.000
RPH3AL	HNRNPK	psi-mi:“MI:0915”(physical association)	0.000
	RPH3AL	psi-mi:“MI:0915”(physical association)	0.000
SCNM1	RPH3AL	psi-mi:“MI:0915”(physical association)	0.000
RPH3AL	AIRIM	psi-mi:“MI:0915”(physical association)	0.000
RPH3AL	RAB27B	psi-mi:“MI:0915”(physical association)	0.000
ANKRD11	RPH3AL	psi-mi:“MI:0915”(physical association)	0.000
RSPH14	RPH3AL	psi-mi:“MI:0915”(physical association)	0.000
PRKAB2	RPH3AL	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): MID2 (Two-hybrid), RPH3AL (Affinity Capture-RNA), RPH3AL (Reconstituted Complex), RPH3AL (Reconstituted Complex), UNC13B (Reconstituted Complex), RPH3AL (Affinity Capture-MS), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid), RPH3AL (Two-hybrid)

ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A4QP16, A6NP61, B2RVL6, C0SPG1, C3VD30, K7SGN7, O54880, P56163, Q1XFL1, Q29RJ0, Q2KI52, Q32L09, Q3V0J4, Q4R2Y2, Q4R739, Q58D79, Q5RAK6, Q5TKR9, Q5VWQ0, Q6PDK8, Q768S4, Q7T3T8, Q7T3T9, Q80T69, Q86US8, Q86Y01, Q8AW93, Q8BMD7, Q8BRB7, Q8BZ21, Q8CAK3, Q8CDN1, Q8HXK7, Q8K3Y6, Q8N2G6, Q8N9V6, Q8TE76

Diamond homologs: O54880, P41885, P47708, P47709, Q06846, Q4VX76, Q58D79, Q768S4, Q86UR5, Q8VHQ7, Q96C24, Q99NE5, Q9EQZ7, Q9JIR4, Q9R0Q1, Q9UNE2, Q9UQ26, Q9Y2J0, A0A075F932, A0FGR9, B2RUP2, D4ABL6, E9PV86, K8FE10, O00443, O00445, O00750, O08625, O35681, O43581, P04409, P05126, P05128, P05129, P05130, P05696, P05771, P05772, P10102, P10829

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3606 predictions. Top by Δscore:

Variant	Effect	Δscore
17:247106:CTTA:C	donor_loss	1.0000
17:247107:TTA:T	donor_loss	1.0000
17:247108:TA:T	donor_loss	1.0000
17:247109:A:C	donor_loss	1.0000
17:319414:TCTTA:T	donor_loss	1.0000
17:319415:CTTA:C	donor_loss	1.0000
17:319416:TTA:T	donor_loss	1.0000
17:319417:TACCT:T	donor_loss	1.0000
17:319418:ACCTT:A	donor_gain	1.0000
17:319419:C:G	donor_loss	1.0000
17:319419:CCTTC:C	donor_gain	1.0000
17:319422:T:A	donor_gain	1.0000
17:319545:GCCGC:G	acceptor_gain	1.0000
17:319546:CCGC:C	acceptor_gain	1.0000
17:319546:CCGCC:C	acceptor_gain	1.0000
17:319547:CGC:C	acceptor_gain	1.0000
17:319547:CGCC:C	acceptor_gain	1.0000
17:319548:GCCT:G	acceptor_loss	1.0000
17:319550:C:A	acceptor_loss	1.0000
17:319550:C:CC	acceptor_gain	1.0000
17:319551:T:A	acceptor_loss	1.0000
17:327458:GGTAC:G	donor_loss	1.0000
17:327459:GTACT:G	donor_loss	1.0000
17:327460:TAC:T	donor_loss	1.0000
17:327461:ACT:A	donor_loss	1.0000
17:327462:CTC:C	donor_loss	1.0000
17:327463:TCACT:T	donor_loss	1.0000
17:327464:CACT:C	donor_loss	1.0000
17:327465:A:AC	donor_gain	1.0000
17:327465:ACT:A	donor_loss	1.0000

AlphaMissense

2028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:281794:A:G	C138R	0.999
17:319488:A:G	C95R	0.999
17:247259:G:C	F155L	0.998
17:247259:G:T	F155L	0.998
17:247260:A:G	F155S	0.998
17:247261:A:G	F155L	0.998
17:247264:A:G	W154R	0.998
17:247264:A:T	W154R	0.998
17:281783:G:C	C141W	0.998
17:281784:C:T	C141Y	0.998
17:281785:A:G	C141R	0.998
17:281793:C:G	C138S	0.998
17:281793:C:T	C138Y	0.998
17:281794:A:T	C138S	0.998
17:281838:C:G	C123S	0.998
17:281839:A:G	C123R	0.998
17:281839:A:T	C123S	0.998
17:281848:A:G	C120R	0.998
17:319436:C:T	C112Y	0.998
17:319437:A:G	C112R	0.998
17:319486:A:C	C95W	0.998
17:319487:C:G	C95S	0.998
17:319488:A:T	C95S	0.998
17:321402:A:G	W31R	0.998
17:321402:A:T	W31R	0.998
17:247262:C:A	W154C	0.997
17:247262:C:G	W154C	0.997
17:281792:A:C	C138W	0.997
17:281846:G:C	C120W	0.997
17:281847:C:T	C120Y	0.997

dbSNP variants (sampled 300 via entrez): RS1000005873 (17:270403 C>T), RS1000009932 (17:305181 G>C), RS1000031365 (17:248205 C>T), RS1000041213 (17:342770 T>C), RS1000041530 (17:336951 C>G), RS1000053547 (17:325133 T>C), RS1000083440 (17:310144 ACT>A), RS1000098882 (17:270225 G>A), RS1000154055 (17:291790 TA>T,TAA), RS1000188235 (17:250991 C>T), RS1000218796 (17:298343 T>C), RS1000255359 (17:290818 G>A), RS1000264166 (17:323070 T>C), RS1000298478 (17:222186 A>G,T), RS1000307558 (17:290955 T>C)

Disease associations

OMIM: gene MIM:604881 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001060_5	AIDS progression	4.000000e-06
GCST005688_14	Idiopathic intracranial hypertension	1.000000e-06
GCST005760_6	Dimensional psychopathology (Cognitive)	5.000000e-07
GCST009642_6	Impaired insulin sensitivity in response to n-3 PUFA supplementation	2.000000e-07
GCST009642_7	Impaired insulin sensitivity in response to n-3 PUFA supplementation	5.000000e-06
GCST90093092_4	DHEAS levels	9.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009098	cognitive domain measurement
EFO:0004471	insulin sensitivity measurement
EFO:0009131	response to polyunsaturated fatty acid supplementation
EFO:0007001	dehydroepiandrosterone sulphate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
Cyclosporine	decreases expression, increases expression	3
entinostat	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Estradiol	affects expression, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation, increases methylation	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
cobaltous chloride	decreases expression	1
nickel acetate	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
belinostat	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Chlordecone	affects response to substance	1
Lead	decreases expression	1
Methotrexate	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	decreases methylation, increases methylation	1
Cadmium Chloride	affects expression	1

Clinical trials (associated diseases)

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