TRAPPC3

Summary

TRAPPC3 (trafficking protein particle complex subunit 3, HGNC:19942) is a protein-coding gene on chromosome 1p34.3, encoding Trafficking protein particle complex subunit 3 (O43617). May play a role in vesicular transport from endoplasmic reticulum to Golgi. It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 27095 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 55 total — 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_014408

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19942
Approved symbol	TRAPPC3
Name	trafficking protein particle complex subunit 3
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	BET3
Ensembl gene	ENSG00000054116
Ensembl biotype	protein_coding
OMIM	610955
Entrez	27095

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000373159, ENST00000373162, ENST00000373163, ENST00000373166, ENST00000462715, ENST00000469757, ENST00000497251, ENST00000616074, ENST00000616395, ENST00000617904, ENST00000851013, ENST00000905432, ENST00000923687, ENST00000923688

RefSeq mRNA: 5 — MANE Select: NM_014408 NM_001270894, NM_001270895, NM_001270896, NM_001270897, NM_014408

CCDS: CCDS404, CCDS59194, CCDS72757, CCDS72758

Canonical transcript exons

ENST00000373166 — 5 exons

Exon	Start	End
ENSE00000766275	36137796	36137978
ENSE00001459692	36136572	36137322
ENSE00001889875	36149337	36149486
ENSE00003488388	36139720	36139819
ENSE00003673002	36140069	36140166

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 96.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.6290 / max 201.7606, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11708	43.1707	1825
11707	1.4583	1074

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland	UBERON:0001233	96.98	gold quality
right adrenal gland cortex	UBERON:0035827	96.94	gold quality
left adrenal gland	UBERON:0001234	96.77	gold quality
left adrenal gland cortex	UBERON:0035825	96.63	gold quality
adrenal cortex	UBERON:0001235	96.49	gold quality
right lobe of thyroid gland	UBERON:0001119	96.43	gold quality
islet of Langerhans	UBERON:0000006	96.40	gold quality
left lobe of thyroid gland	UBERON:0001120	96.22	gold quality
thyroid gland	UBERON:0002046	95.87	gold quality
lower esophagus	UBERON:0013473	95.81	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.81	gold quality
right coronary artery	UBERON:0001625	95.79	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.70	gold quality
adrenal gland	UBERON:0002369	95.67	gold quality
left testis	UBERON:0004533	95.56	gold quality
adenohypophysis	UBERON:0002196	95.55	gold quality
esophagus	UBERON:0001043	95.52	gold quality
right testis	UBERON:0004534	95.52	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.52	gold quality
granulocyte	CL:0000094	95.48	gold quality
esophagus mucosa	UBERON:0002469	95.38	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.34	gold quality
ascending aorta	UBERON:0001496	95.22	gold quality
thoracic aorta	UBERON:0001515	95.22	gold quality
skin of leg	UBERON:0001511	95.17	gold quality
pituitary gland	UBERON:0000007	95.15	gold quality
apex of heart	UBERON:0002098	95.15	gold quality
monocyte	CL:0000576	95.14	gold quality
aorta	UBERON:0000947	95.08	gold quality
skin of abdomen	UBERON:0001416	95.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting TRAPPC3, 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-3185	99.99	68.12	1959
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-4711-3P	98.97	66.87	1020

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• crystal structure (PMID:15692564)
• Bet3 functions as a cytosolic factor participating in transport from the ER to the Golgi apparatus (PMID:15728249)
• The crystal structure of human Bet3-Tpc6B heterodimer presented here represents a core sub-complex in the assembly of TRAPP. (PMID:16828797)
• mBet3p is required for the tethering and fusion of COPII vesicles to each other. (PMID:16880271)
• Bet3 has strong self-palmitoylating activity (PMID:16908848)
• TRAPPC3 expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels. (PMID:31682009)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	trappc3	ENSDARG00000045364
mus_musculus	Trappc3	ENSMUSG00000028847
rattus_norvegicus	Trappc3	ENSRNOG00000010550
drosophila_melanogaster	Bet3	FBGN0260859
caenorhabditis_elegans		WBGENE00014222

Paralogs (1): TRAPPC3L (ENSG00000173626)

Protein

Protein identifiers

Trafficking protein particle complex subunit 3 — O43617 (reviewed: O43617)

Alternative names: BET3 homolog

All UniProt accessions (4): A0A087WWM0, A0A087WYS5, A6NKE1, O43617

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Subunit / interactions. Homodimer. Component of the multisubunit transport protein particle (TRAPP) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Heterodimer with TRAPPC6A. The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Heterodimer with TRAPPC6b. The heterodimer TRAPPC6B-TRAPPC3 interacts with TRAPPC1 likely providing a core for TRAPP complex formation.

Subcellular location. Golgi apparatus. cis-Golgi network. Endoplasmic reticulum.

Similarity. Belongs to the TRAPP small subunits family. BET3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O43617-1	1	yes
O43617-2	2

RefSeq proteins (5): NP_001257823, NP_001257824, NP_001257825, NP_001257826, NP_055223* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007194	TRAPP_component	Family
IPR016721	Bet3	Family
IPR024096	NO_sig/Golgi_transp_ligand-bd	Homologous_superfamily

Pfam: PF04051

UniProt features (18 total): helix 7, strand 4, turn 2, mutagenesis site 2, chain 1, lipid moiety-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1SZ7	X-RAY DIFFRACTION	1.55
3KXC	X-RAY DIFFRACTION	2
2C0J	X-RAY DIFFRACTION	2.2
2CFH	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43617-F1	90.71	0.81

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): 68

Mutagenesis-validated functional residues (2):

Position	Phenotype
33–35	impairs interaction with trappc1.
68	loss of palmitoylation.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 208 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_ORGANIZATION, MORF_HDAC1, GOBP_VESICLE_TARGETING, AP4_Q6, MORF_HDAC2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, MORF_SKP1A, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN

GO Biological Process (7): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), intra-Golgi vesicle-mediated transport (GO:0006891), vesicle coat assembly (GO:0006901), COPII vesicle coat assembly (GO:0048208), obsolete vesicle tethering (GO:0099022), vesicle-mediated transport (GO:0016192), Golgi vesicle transport (GO:0048193)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), TRAPP complex (GO:0030008), cis-Golgi network membrane (GO:0033106), TRAPPII protein complex (GO:1990071), TRAPPIII protein complex (GO:1990072), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	1
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
Golgi apparatus	3
Golgi vesicle transport	2
bounding membrane of organelle	2
cellular anatomical structure	2
endomembrane system	2
intracellular membrane-bounded organelle	2
TRAPP complex	2
intercellular transport	1
intracellular transport	1
vesicle budding from membrane	1
vesicle organization	1
vesicle coat assembly	1
protein-containing complex assembly	1
COPII-coated vesicle budding	1
transport	1
cellular process	1
vesicle-mediated transport	1
binding	1
intracellular anatomical structure	1
vesicle tethering complex	1
intracellular protein-containing complex	1
cis-Golgi network	1
endosome	1

Protein interactions and networks

STRING

1074 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRAPPC3	TRAPPC1	Q9Y5R8	998
TRAPPC3	TRAPPC4	Q9Y296	998
TRAPPC3	TRAPPC2	P0DI81	997
TRAPPC3	TRAPPC5	Q8IUR0	997
TRAPPC3	TRAPPC6A	O75865	996
TRAPPC3	TRAPPC6B	Q86SZ2	963
TRAPPC3	TRAPPC8	Q9Y2L5	916
TRAPPC3	TRAPPC9	Q96Q05	898
TRAPPC3	TRAPPC10	P48553	887
TRAPPC3	SEC23B	Q15437	846
TRAPPC3	TRAPPC12	Q8WVT3	832
TRAPPC3	TRAPPC11	Q7Z392	808
TRAPPC3	TRAPPC13	A5PLN9	763
TRAPPC3	BET1	O15155	754
TRAPPC3	RAB1A	P11476	746

IntAct

144 interactions, top by confidence:

A	B	Type	Score
TRAPPC3	TRAPPC2L	psi-mi:“MI:0915”(physical association)	0.880
TRAPPC2L	TRAPPC3	psi-mi:“MI:0915”(physical association)	0.880
TRAPPC6A	TRAPPC3	psi-mi:“MI:0915”(physical association)	0.850
TRAPPC3	TRAPPC6A	psi-mi:“MI:0915”(physical association)	0.850
TRAPPC6A	TRAPPC3	psi-mi:“MI:0914”(association)	0.850
TRAPPC3	TRAPPC1	psi-mi:“MI:0915”(physical association)	0.840
RUFY4	NDC80	psi-mi:“MI:0914”(association)	0.830
TRAPPC3	TRAPPC5	psi-mi:“MI:0915”(physical association)	0.740
TRAPPC3	TRAPPC6A	psi-mi:“MI:0915”(physical association)	0.720
TRAPPC6A	TRAPPC3	psi-mi:“MI:0403”(colocalization)	0.720
RAB3IP	TRAPPC3	psi-mi:“MI:0914”(association)	0.700
RAB3IP	TRAPPC3	psi-mi:“MI:0915”(physical association)	0.700
TRAPPC3	TRAPPC6B	psi-mi:“MI:0915”(physical association)	0.640
KANK4	TRAPPC3	psi-mi:“MI:0914”(association)	0.640
TRAPPC6B	TRAPPC3	psi-mi:“MI:0915”(physical association)	0.640
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570

BioGRID (132): TRAPPC2L (Two-hybrid), TRAPPC6A (Two-hybrid), PLEKHF2 (Two-hybrid), TRAPPC3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC6A (Two-hybrid), TRAPPC2L (Two-hybrid), TRAPPC3 (Co-fractionation), TRAPPC3 (Co-fractionation), TRAPPC3 (Co-fractionation), TRAPPC3 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS)

ESM2 similar proteins: A7RWP6, B4GW22, B4NC41, F1QMV3, F4JWP9, O43617, O55013, P34605, P36149, P45437, Q02880, Q08DS5, Q29G21, Q29G82, Q2NL13, Q32L78, Q4KL14, Q5BLF0, Q5F359, Q5R7L4, Q5RC82, Q5T215, Q5U1Z2, Q5ZI57, Q61IU9, Q62991, Q6GNS3, Q6P2Z0, Q6P2Z6, Q803N9, Q86K94, Q86SZ2, Q8AVM7, Q8BRF7, Q8IUR0, Q8K224, Q8WVM8, Q96D46, Q98SP7, Q99MH9

Diamond homologs: O43617, O55013, P34605, P36149, Q4KL14, Q5T215, Q5U1Z2, Q5ZI57, Q61IU9, Q86K94, Q9P6P5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TRAPPC3	“form complex”	“TRAPP III complex, TRAPPC2 variant”	binding
TRAPPC3	“form complex”	“TRAPP III complex, TRAPPC2B variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RAB GEFs exchange GTP for GDP on RABs	15	38.0×	5e-18
COPII-mediated vesicle transport	10	33.3×	5e-11

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle tethering	13	211.3×	5e-27
COPII vesicle coat assembly	9	103.6×	8e-15
endoplasmic reticulum to Golgi vesicle-mediated transport	15	33.4×	3e-17
Golgi organization	5	11.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	34
Likely benign	10
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
266073	NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)	Likely pathogenic

SpliceAI

862 predictions. Top by Δscore:

Variant	Effect	Δscore
1:36137320:GACC:G	acceptor_loss	1.0000
1:36137322:CCTG:C	acceptor_loss	1.0000
1:36137323:C:CA	acceptor_loss	1.0000
1:36137324:T:C	acceptor_loss	1.0000
1:36140062:CACT:C	donor_loss	1.0000
1:36140063:A:AC	donor_gain	1.0000
1:36140064:C:CC	donor_gain	1.0000
1:36140064:CTCA:C	donor_gain	1.0000
1:36140066:C:CC	donor_loss	1.0000
1:36140067:A:AC	donor_gain	1.0000
1:36140068:C:CC	donor_gain	1.0000
1:36140068:C:CG	donor_loss	1.0000
1:36140068:CA:C	donor_gain	1.0000
1:36140165:CT:C	acceptor_gain	1.0000
1:36140167:C:CC	acceptor_gain	1.0000
1:36137323:C:CC	acceptor_gain	0.9900
1:36137331:C:CT	acceptor_gain	0.9900
1:36137332:A:T	acceptor_gain	0.9900
1:36137333:G:C	acceptor_gain	0.9900
1:36137333:G:GC	acceptor_gain	0.9900
1:36139678:G:C	donor_gain	0.9900
1:36140063:ACTC:A	donor_loss	0.9900
1:36140064:CT:C	donor_gain	0.9900
1:36140068:CAT:C	donor_gain	0.9900
1:36140068:CATT:C	donor_gain	0.9900
1:36140162:GAGCT:G	acceptor_gain	0.9900
1:36140166:TC:T	acceptor_loss	0.9900
1:36140167:CTAA:C	acceptor_loss	0.9900
1:36140168:T:C	acceptor_loss	0.9900
1:36137318:TGGAC:T	acceptor_gain	0.9800

AlphaMissense

1195 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:36137821:C:T	G133E	1.000
1:36137905:A:G	L105P	1.000
1:36139796:A:G	L55P	1.000
1:36139805:C:T	G52E	1.000
1:36139806:C:G	G52R	1.000
1:36139806:C:T	G52R	1.000
1:36139817:C:T	G48D	1.000
1:36139818:C:G	G48R	1.000
1:36140078:A:G	L44P	1.000
1:36140129:A:T	V27D	1.000
1:36140138:C:T	G24D	1.000
1:36140139:C:G	G24R	1.000
1:36137806:G:T	A138D	0.999
1:36137807:C:G	A138P	0.999
1:36137809:C:T	G137E	0.999
1:36137810:C:G	G137R	0.999
1:36137810:C:T	G137R	0.999
1:36137821:C:A	G133V	0.999
1:36137822:C:A	G133W	0.999
1:36137822:C:G	G133R	0.999
1:36137822:C:T	G133R	0.999
1:36137947:G:C	P91R	0.999
1:36137974:G:T	A82E	0.999
1:36139736:G:T	A75E	0.999
1:36139737:C:G	A75P	0.999
1:36139790:T:A	E57V	0.999
1:36139799:C:G	R54P	0.999
1:36139805:C:A	G52V	0.999
1:36139817:C:A	G48V	0.999
1:36139818:C:A	G48C	0.999

dbSNP variants (sampled 300 via entrez): RS1000030864 (1:36137631 T>A,C,G), RS1000075580 (1:36152912 A>G), RS1000234844 (1:36141473 A>G), RS1000417468 (1:36149783 T>C,G), RS1000520339 (1:36143797 T>A), RS1000625234 (1:36144201 T>C), RS1000671181 (1:36137677 C>T), RS1000836301 (1:36141155 CA>C,CAA), RS1000976122 (1:36144058 C>T), RS1001139200 (1:36152872 G>A), RS1001225164 (1:36157985 C>G), RS1001342974 (1:36140588 T>A,C), RS1001395359 (1:36140926 G>A), RS1001447547 (1:36157639 C>A), RS1001471466 (1:36154594 T>C)

Disease associations

OMIM: gene MIM:610955 | disease phenotypes: MIM:209900

GenCC curated gene-disease

Mondo (1): Bardet-Biedl syndrome (MONDO:0015229)

Orphanet (1): Bardet-Biedl syndrome (Orphanet:110)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006394_26	Intraocular pressure	8.000000e-10
GCST90011770_1	Glaucoma (primary open-angle)	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases expression, increases abundance, affects cotreatment, decreases reaction, increases expression	3
aristolochic acid I	increases expression	1
ginger extract	decreases reaction, increases abundance, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, decreases reaction, increases abundance	1
beta-lapachone	increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
pyrachlostrobin	increases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Vehicle Emissions	increases expression, decreases reaction	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Cisplatin	increases expression	1
Diazinon	increases methylation	1
Gasoline	increases abundance, affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Oils, Volatile	decreases reaction, increases abundance, increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Rotenone	increases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
NCT00213811	Not specified	COMPLETED	Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02329210	Not specified	RECRUITING	Clinical Registry Investigating Bardet-Biedl Syndrome
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT04461444	Not specified	RECRUITING	COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05183802	Not specified	APPROVED_FOR_MARKETING	An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
NCT05400278	Not specified	COMPLETED	Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
NCT06239064	Not specified	ACTIVE_NOT_RECRUITING	Early Genetic Identification of Obesity
NCT06615011	Not specified	NOT_YET_RECRUITING	Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
NCT07602803	Not specified	COMPLETED	The Effect of GLP1 Agonists on Weight Loss in BBS Cohort in the UK