PSMG2

Summary

PSMG2 (proteasome assembly chaperone 2, HGNC:24929) is a protein-coding gene on chromosome 18p11.21, encoding Proteasome assembly chaperone 2 (Q969U7). Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. It is a selective cancer dependency (DepMap: 70.4% of cell lines).

Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in nucleus. Part of protein folding chaperone complex. Implicated in proteosome-associated autoinflammatory syndrome 4.

Source: NCBI Gene 56984 — RefSeq curated summary.

At a glance

• Gene–disease (curated): proteasome-associated autoinflammatory syndrome 4 (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 257 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 18
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 70.4% of screened cell lines
• MANE Select transcript: NM_020232

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24929
Approved symbol	PSMG2
Name	proteasome assembly chaperone 2
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2
Ensembl gene	ENSG00000128789
Ensembl biotype	protein_coding
OMIM	609702
Entrez	56984

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 11 protein_coding, 6 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 5 retained_intron

ENST00000317615, ENST00000400512, ENST00000400514, ENST00000585331, ENST00000585853, ENST00000586445, ENST00000586587, ENST00000588824, ENST00000589405, ENST00000590217, ENST00000699163, ENST00000699164, ENST00000699165, ENST00000699166, ENST00000699167, ENST00000699168, ENST00000699169, ENST00000699170, ENST00000699171, ENST00000699172, ENST00000699173, ENST00000699174, ENST00000699175, ENST00000858798, ENST00000913932, ENST00000946682, ENST00000946683

RefSeq mRNA: 2 — MANE Select: NM_020232 NM_020232, NM_147163

CCDS: CCDS11862, CCDS67440

Canonical transcript exons

ENST00000317615 — 7 exons

Exon	Start	End
ENSE00001336481	12703042	12703164
ENSE00003703498	12718517	12718635
ENSE00003704429	12720510	12720683
ENSE00003706233	12712702	12712760
ENSE00003708168	12725439	12725740
ENSE00003710738	12724499	12724619
ENSE00003975810	12706550	12706721

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.4479 / max 354.5567, expressed in 1822 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169500	52.8342	1820
169499	4.2930	1677
169501	1.9960	1215
169496	0.9648	590
208500	0.7473	458
169495	0.6125	359

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.08	gold quality
adult organism	UBERON:0007023	98.42	gold quality
gingival epithelium	UBERON:0001949	98.30	gold quality
gingiva	UBERON:0001828	98.29	gold quality
sperm	CL:0000019	98.16	gold quality
skin of hip	UBERON:0001554	98.16	gold quality
male germ cell	CL:0000015	98.12	gold quality
parotid gland	UBERON:0001831	98.09	gold quality
oral cavity	UBERON:0000167	98.07	gold quality
palpebral conjunctiva	UBERON:0001812	97.88	gold quality
tongue squamous epithelium	UBERON:0006919	97.81	gold quality
colonic mucosa	UBERON:0000317	97.72	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.67	gold quality
mammalian vulva	UBERON:0000997	97.66	gold quality
seminal vesicle	UBERON:0000998	97.65	gold quality
esophagus squamous epithelium	UBERON:0006920	97.61	gold quality
epithelium of esophagus	UBERON:0001976	97.56	gold quality
tibia	UBERON:0000979	97.53	gold quality
upper leg skin	UBERON:0004262	97.52	gold quality
squamous epithelium	UBERON:0006914	97.52	gold quality
thymus	UBERON:0002370	97.46	gold quality
cartilage tissue	UBERON:0002418	97.45	gold quality
jejunal mucosa	UBERON:0000399	97.38	gold quality
trabecular bone tissue	UBERON:0002483	97.35	gold quality
oocyte	CL:0000023	97.34	gold quality
pharyngeal mucosa	UBERON:0000355	97.29	gold quality
superficial temporal artery	UBERON:0001614	97.28	gold quality
right testis	UBERON:0004534	97.28	gold quality
left testis	UBERON:0004533	97.20	gold quality
penis	UBERON:0000989	97.19	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	26.99
E-CURD-88	no	3.78
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting PSMG2, 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-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-374C-3P	98.47	67.93	451
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-503-3P	92.89	66.09	537

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 70.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• A novel full-length cDNA was cloned and differentiated, which was highly expressed in liver cancer tissues. (HCCA3) (PMID:11854909)
• two chaperones, designated proteasome assembling chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in the maturation of mammalian 20S proteasomes (PMID:16251969)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	psmg2	ENSDARG00000035987
mus_musculus	Psmg2	ENSMUSG00000024537
drosophila_melanogaster	CG12321	FBGN0038577

Protein

Protein identifiers

Proteasome assembly chaperone 2 — Q969U7 (reviewed: Q969U7)

Alternative names: Hepatocellular carcinoma-susceptibility protein 3, Tumor necrosis factor superfamily member 5-induced protein 1

All UniProt accessions (10): Q969U7, A0A8V8TMT6, A0A8V8TMU0, A0A8V8TMU6, A0A8V8TMV1, A0A8V8TNA9, A0A8V8TP80, A0A8V8TPK9, K7ENR6, K7ER45

UniProt curated annotations — full annotation on UniProt →

Function. Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.

Subunit / interactions. Forms a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer interacts directly with the PSMA5 and PSMA7 proteasome alpha subunits.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed with highest levels in lung, brain and colon. Moderately expressed in muscle, stomach, spleen and heart. Weakly expressed in small intestine, pancreas and liver. Highly expressed in hepatocellular carcinomas with low levels in surrounding liver tissue.

Post-translational modifications. Degraded by the proteasome upon completion of 20S proteasome maturation.

Disease relevance. Proteasome-associated autoinflammatory syndrome 4 (PRAAS4) [MIM:619183] An autosomal recessive, autoinflammatory disorder characterized by panniculitis and erythematous skin lesions apparent in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, fever, generalized lipodystrophy, myositis, joint contractures, and mild motor and speech delay. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the PSMG2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q969U7-1	1	yes
Q969U7-2	2

RefSeq proteins (2): NP_064617, NP_671692 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016562	Proteasome_assmbl_chp_2_euk	Family
IPR019151	Proteasome_assmbl_chaperone_2	Family
IPR038389	PSMG2_sf	Homologous_superfamily

Pfam: PF09754

UniProt features (37 total): strand 17, helix 11, turn 3, sequence conflict 2, chain 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
8QYL	ELECTRON MICROSCOPY	2.67
8QYJ	ELECTRON MICROSCOPY	2.73
8QYM	ELECTRON MICROSCOPY	2.73
8TM6	ELECTRON MICROSCOPY	2.8
8QYN	ELECTRON MICROSCOPY	2.88
8YIX	ELECTRON MICROSCOPY	2.91
8QZ9	ELECTRON MICROSCOPY	2.95
8TM3	ELECTRON MICROSCOPY	3
8TM4	ELECTRON MICROSCOPY	3
8TM5	ELECTRON MICROSCOPY	3
8YIY	ELECTRON MICROSCOPY	3.41
8YIZ	ELECTRON MICROSCOPY	3.79
8QYS	ELECTRON MICROSCOPY	3.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969U7-F1	92.71	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): 137

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9907900	Proteasome assembly

MSigDB gene sets: 210 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_NUCLEAR_DIVISION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_PROTEASOME_ASSEMBLY, GOBP_CHROMOSOME_SEPARATION, GOBP_CHAPERONE_MEDIATED_PROTEIN_COMPLEX_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CHROMOSOME_SEGREGATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, GOBP_MITOTIC_NUCLEAR_DIVISION

GO Biological Process (5): mitotic spindle assembly checkpoint signaling (GO:0007094), negative regulation of apoptotic process (GO:0043066), proteasome assembly (GO:0043248), chaperone-mediated protein complex assembly (GO:0051131), regulation of cell cycle (GO:0051726)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), protein folding chaperone complex (GO:0101031)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-containing complex assembly	2
binding	2
mitotic cell cycle	1
negative regulation of mitotic metaphase/anaphase transition	1
spindle assembly checkpoint signaling	1
mitotic spindle checkpoint signaling	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
cell cycle	1
regulation of cellular process	1
molecular_function	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1
intracellular protein-containing complex	1

Protein interactions and networks

STRING

1082 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSMG2	PSMG1	O95456	976
PSMG2	PSMG3	Q9BT73	789
PSMG2	PSMA5	P28066	747
PSMG2	POMP	Q9Y244	717
PSMG2	PSMC3	P17980	716
PSMG2	PSMG4	Q5JS54	661
PSMG2	PSMC6	P49719	645
PSMG2	PSMA3	P25788	623
PSMG2	PSMB4	P28070	623
PSMG2	PAAF1	Q9BRP4	597
PSMG2	PSME4	Q14997	561
PSMG2	PSMD12	O00232	550
PSMG2	PSMA7	O14818	544
PSMG2	PSMB8	P28062	517
PSMG2	PSMB9	P28065	498

IntAct

100 interactions, top by confidence:

A	B	Type	Score
PSMA1	PSMA7	psi-mi:“MI:0914”(association)	0.950
PSMA1	PSMA7	psi-mi:“MI:2364”(proximity)	0.950
PSMG1	PSMG2	psi-mi:“MI:0915”(physical association)	0.850
PSMA2	PSMA7	psi-mi:“MI:0914”(association)	0.850
PSMG2	PSMG1	psi-mi:“MI:0914”(association)	0.850
PSMA5	PSMA7	psi-mi:“MI:0914”(association)	0.800
PSMB7	PSMA7	psi-mi:“MI:0914”(association)	0.790
PSMB3	PSMA7	psi-mi:“MI:0914”(association)	0.770
PSMB2	PSMD11	psi-mi:“MI:0914”(association)	0.730
PSMB4	PSMA7	psi-mi:“MI:0914”(association)	0.730
PSMG2	KRT31	psi-mi:“MI:0915”(physical association)	0.720
KRT31	PSMG2	psi-mi:“MI:0915”(physical association)	0.720
POMP	PSMA7	psi-mi:“MI:0915”(physical association)	0.720
PSMB3	PSMD11	psi-mi:“MI:0914”(association)	0.640
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
PSMB1	PSMA7	psi-mi:“MI:0914”(association)	0.640
PSMG2	TCF4	psi-mi:“MI:0915”(physical association)	0.560
PSMG2	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (162): PSMG2 (Two-hybrid), PSMG2 (Two-hybrid), NOTCH2NL (Two-hybrid), PSMG2 (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), FBXO7 (Affinity Capture-MS), PSMB7 (Affinity Capture-MS), POMP (Affinity Capture-MS), PSMA5 (Affinity Capture-MS), PSMG4 (Affinity Capture-MS), PSMG1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMG3 (Affinity Capture-MS), PSMB9 (Affinity Capture-MS), PSMG2 (Affinity Capture-MS)

ESM2 similar proteins: A0AVT1, A0JMS7, A2BP19, A6H630, B0C2K7, B3EK39, B3MF31, B4MNL1, B4P925, B4S3A5, P17812, P46446, P50547, P59830, P70698, P72208, Q10VR3, Q1LXS2, Q1RMS2, Q28C61, Q2NL24, Q3MC79, Q58EM4, Q5BJ91, Q5F3Z1, Q5M876, Q5RBT2, Q5XGC5, Q6AXB1, Q6AYT5, Q6DHI0, Q6DHQ3, Q6DJA3, Q7SYV1, Q7TS68, Q8C7R4, Q8R3P0, Q8YQC1, Q91XE4, Q969U7

Diamond homologs: A7SGU6, Q1LXS2, Q2NL24, Q5XGC5, Q7SYV1, Q869S8, Q969U7, Q9EST4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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
Antigen processing: Ub, ATP-independent proteasomal degradation	12	145.8×	7e-23
Proteasome assembly	20	86.8×	4e-33
Cross-presentation of soluble exogenous antigens (endosomes)	16	86.4×	4e-26
Regulation of activated PAK-2p34 by proteasome mediated degradation	14	83.0×	1e-22
Regulation of ornithine decarboxylase (ODC)	14	81.0×	2e-22
Vpu mediated degradation of CD4	14	79.1×	2e-22
Autodegradation of the E3 ubiquitin ligase COP1	14	79.1×	2e-22
Ubiquitin-dependent degradation of Cyclin D	14	79.1×	2e-22

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	18	15.2×	2e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	155
Likely benign	76
Benign	10

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
997018	NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs)	Pathogenic
4075826	NM_024899.4(CEP76):c.83_84insG (p.Ile28fs)	Likely pathogenic

SpliceAI

3303 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12673499:GAGAT:G	acceptor_gain	1.0000
18:12673501:GAT:G	acceptor_gain	1.0000
18:12673502:ATCT:A	acceptor_loss	1.0000
18:12673503:TC:T	acceptor_loss	1.0000
18:12673504:C:CC	acceptor_gain	1.0000
18:12673506:A:C	acceptor_gain	1.0000
18:12673508:T:C	acceptor_gain	1.0000
18:12673508:T:TC	acceptor_gain	1.0000
18:12674530:CCTTA:C	donor_loss	1.0000
18:12674531:CTTAC:C	donor_loss	1.0000
18:12674532:TTAC:T	donor_loss	1.0000
18:12674534:A:AC	donor_gain	1.0000
18:12674534:A:C	donor_loss	1.0000
18:12674535:C:CC	donor_gain	1.0000
18:12674535:CCGAA:C	donor_loss	1.0000
18:12674749:AGATC:A	acceptor_gain	1.0000
18:12674750:GATC:G	acceptor_gain	1.0000
18:12674751:ATC:A	acceptor_gain	1.0000
18:12674752:TC:T	acceptor_gain	1.0000
18:12674752:TCC:T	acceptor_loss	1.0000
18:12674753:CC:C	acceptor_gain	1.0000
18:12674754:C:CA	acceptor_loss	1.0000
18:12674754:C:CC	acceptor_gain	1.0000
18:12674754:C:T	acceptor_gain	1.0000
18:12674755:T:G	acceptor_loss	1.0000
18:12674756:A:C	acceptor_gain	1.0000
18:12674761:C:CT	acceptor_gain	1.0000
18:12674762:A:T	acceptor_gain	1.0000
18:12674765:C:CT	acceptor_gain	1.0000
18:12674766:A:T	acceptor_gain	1.0000

AlphaMissense

1721 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12718595:A:C	S123R	0.998
18:12718597:C:A	S123R	0.998
18:12718597:C:G	S123R	0.998
18:12706593:T:C	L34P	0.996
18:12725487:T:A	W251R	0.996
18:12725487:T:C	W251R	0.996
18:12712744:G:C	R91T	0.995
18:12706570:T:A	N26K	0.994
18:12706570:T:G	N26K	0.994
18:12725499:T:C	F255L	0.994
18:12725501:T:A	F255L	0.994
18:12725501:T:G	F255L	0.994
18:12712745:A:C	R91S	0.993
18:12712745:A:T	R91S	0.993
18:12720521:G:C	R140P	0.993
18:12712744:G:T	R91I	0.992
18:12718596:G:T	S123I	0.992
18:12724536:T:C	F207L	0.992
18:12724538:T:A	F207L	0.992
18:12724538:T:G	F207L	0.992
18:12724556:C:A	N213K	0.992
18:12724556:C:G	N213K	0.992
18:12724566:G:C	A217P	0.992
18:12724588:T:C	L224P	0.992
18:12725489:G:C	W251C	0.992
18:12725489:G:T	W251C	0.992
18:12706589:G:C	D33H	0.991
18:12706590:A:C	D33A	0.991
18:12706566:G:A	G25E	0.990
18:12706566:G:T	G25V	0.990

dbSNP variants (sampled 300 via entrez): RS1000018450 (18:12659565 G>A,T), RS1000060389 (18:12717794 T>C), RS1000071999 (18:12700636 A>G,T), RS1000113143 (18:12663052 A>G), RS1000146234 (18:12720992 A>G), RS1000146920 (18:12712287 T>C), RS1000163509 (18:12686812 T>C,G), RS1000207842 (18:12694231 G>T), RS1000381134 (18:12710102 C>A), RS1000427961 (18:12670272 G>A,C), RS1000482057 (18:12688849 T>C), RS1000500918 (18:12659358 G>A), RS1000503794 (18:12664969 C>T), RS1000518696 (18:12705291 T>C), RS1000567972 (18:12666424 C>A)

Disease associations

OMIM: gene MIM:609702 | disease phenotypes: MIM:619183, MIM:209900

GenCC curated gene-disease

Disease	Classification	Inheritance
proteasome-associated autoinflammatory syndrome 4	Limited	Unknown

Mondo (2): proteasome-associated autoinflammatory syndrome 4 (MONDO:0030931), Bardet-Biedl syndrome 1 (MONDO:0008854)

Orphanet (0):

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000750	Delayed speech and language development
HP:0000969	Edema
HP:0001270	Motor delay
HP:0001371	Flexion contracture
HP:0001744	Splenomegaly
HP:0001890	Autoimmune hemolytic anemia
HP:0001954	Recurrent fever
HP:0002135	Basal ganglia calcification
HP:0002240	Hepatomegaly
HP:0002716	Lymphadenopathy
HP:0003202	Skeletal muscle atrophy
HP:0003593	Infantile onset
HP:0009064	Generalized lipodystrophy
HP:0010783	Erythema
HP:0012490	Panniculitis
HP:0033331	Acute phase response
HP:0100614	Myositis

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004866_16	Alopecia areata	6.000000e-07
GCST006629_14	Pulse pressure	4.000000e-11
GCST007269_167	Pulse pressure	8.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537909	Bardet-Biedl syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3885624 (PROTEIN COMPLEX)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.22	IC50	6000	nM	CHEMBL1097925

PubChem BioAssay actives

1 with measured affinity, of 49 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S)-2-[[(2S,4E)-4-[[(1R,2R,4aS,8aR)-2-methyl-1,2,4a,5,6,7,8,8a-octahydronaphthalen-1-yl]-hydroxymethylidene]-1-methyl-3,5-dioxopyrrolidin-2-yl]methyl]-2-hydroxy-3-methylbutanoic acid	477402: Inhibition of PAC1/PAC2 interaction by protein fragment complementation assay	ic50	6.0000	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression, decreases expression	3
Air Pollutants	affects expression, increases abundance, decreases expression	2
potassium perchlorate	decreases expression	1
beta-lapachone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Acetaminophen	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Isoniazid	increases expression	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	increases expression	1
Cadmium Chloride	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1111853	Binding	Inhibition of PAC1/PAC2 interaction by protein fragment complementation assay	JBIR-22, an inhibitor for protein-protein interaction of the homodimer of proteasome assembly factor 3. — J Nat Prod

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration