PRPSAP2

Summary

PRPSAP2 (phosphoribosyl pyrophosphate synthetase associated protein 2, HGNC:9467) is a protein-coding gene on chromosome 17p11.2, encoding Phosphoribosyl pyrophosphate synthase-associated protein 2 (O60256). Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 5636 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 38 total
• Druggable target: yes
• MANE Select transcript: NM_002767

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9467
Approved symbol	PRPSAP2
Name	phosphoribosyl pyrophosphate synthetase associated protein 2
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	PAP41
Ensembl gene	ENSG00000141127
Ensembl biotype	protein_coding
OMIM	603762
Entrez	5636

Gene structure

Transcript identifiers

Ensembl transcripts: 76 — 66 protein_coding, 6 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000268835, ENST00000395656, ENST00000412418, ENST00000414602, ENST00000419071, ENST00000419284, ENST00000422237, ENST00000432893, ENST00000441887, ENST00000455992, ENST00000460724, ENST00000466106, ENST00000478622, ENST00000487101, ENST00000492129, ENST00000536323, ENST00000542013, ENST00000570450, ENST00000571907, ENST00000573253, ENST00000573432, ENST00000574451, ENST00000574522, ENST00000575102, ENST00000575228, ENST00000575337, ENST00000576355, ENST00000610773, ENST00000628609, ENST00000869446, ENST00000869447, ENST00000869448, ENST00000869449, ENST00000869450, ENST00000869451, ENST00000869452, ENST00000869453, ENST00000869454, ENST00000869455, ENST00000869456, ENST00000869457, ENST00000869458, ENST00000869459, ENST00000869460, ENST00000869461, ENST00000869462, ENST00000869463, ENST00000869464, ENST00000869465, ENST00000869466, ENST00000939030, ENST00000939031, ENST00000939032, ENST00000939033, ENST00000939034, ENST00000939035, ENST00000939036, ENST00000939037, ENST00000939038, ENST00000939039, ENST00000939040, ENST00000939041, ENST00000939042, ENST00000939043, ENST00000939044, ENST00000939045, ENST00000939046, ENST00000954994, ENST00000954995, ENST00000954996, ENST00000954997, ENST00000954998, ENST00000954999, ENST00000955000, ENST00000955001, ENST00000955002

RefSeq mRNA: 17 — MANE Select: NM_002767 NM_001243936, NM_001243940, NM_001243941, NM_001243942, NM_001353096, NM_001353097, NM_001353098, NM_001353099, NM_001353100, NM_001353101, NM_001353102, NM_001353103, NM_001353104, NM_001353105, NM_001353106, NM_001353107, NM_002767

CCDS: CCDS11200, CCDS58525, CCDS58526, CCDS58527

Canonical transcript exons

ENST00000268835 — 12 exons

Exon	Start	End
ENSE00001240575	18865469	18865564
ENSE00002646523	18858131	18858261
ENSE00003458398	18867282	18867334
ENSE00003517361	18877698	18877870
ENSE00003541315	18928811	18928957
ENSE00003609536	18865802	18865952
ENSE00003654455	18930540	18931287
ENSE00003687556	18872583	18872649
ENSE00003784294	18923914	18923984
ENSE00003785161	18882568	18882683
ENSE00003785343	18889822	18889877
ENSE00003786264	18911103	18911251

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.8641 / max 434.1932, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159823	30.7289	1814
159821	2.9927	1407
159822	0.1425	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.10	gold quality
ganglionic eminence	UBERON:0004023	96.91	gold quality
embryo	UBERON:0000922	95.62	gold quality
ventricular zone	UBERON:0003053	95.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.39	gold quality
cerebellar hemisphere	UBERON:0002245	94.09	gold quality
cerebellar cortex	UBERON:0002129	94.07	gold quality
spinal cord	UBERON:0002240	93.91	gold quality
cerebellum	UBERON:0002037	93.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.50	gold quality
pons	UBERON:0000988	93.10	gold quality
lymph node	UBERON:0000029	92.82	gold quality
inferior vagus X ganglion	UBERON:0005363	92.58	gold quality
corpus callosum	UBERON:0002336	92.50	gold quality
tonsil	UBERON:0002372	92.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.94	gold quality
pituitary gland	UBERON:0000007	91.87	gold quality
islet of Langerhans	UBERON:0000006	91.79	gold quality
subthalamic nucleus	UBERON:0001906	91.66	gold quality
adenohypophysis	UBERON:0002196	91.63	gold quality
cerebellar vermis	UBERON:0004720	91.41	gold quality
adrenal tissue	UBERON:0018303	91.30	gold quality
monocyte	CL:0000576	91.19	gold quality
mononuclear cell	CL:0000842	91.04	gold quality
leukocyte	CL:0000738	91.00	gold quality
rectum	UBERON:0001052	90.63	gold quality
hypothalamus	UBERON:0001898	90.33	gold quality
superior vestibular nucleus	UBERON:0007227	90.32	gold quality
nucleus accumbens	UBERON:0001882	90.25	gold quality
epithelium of nasopharynx	UBERON:0001951	90.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting PRPSAP2, 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-513A-5P	100.00	69.77	2465
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	prpsap2	ENSDARG00000019326
mus_musculus	Prpsap2	ENSMUSG00000020528
rattus_norvegicus	Prpsap2	ENSRNOG00000002724
drosophila_melanogaster	CG2246	FBGN0039790
caenorhabditis_elegans		WBGENE00012258

Paralogs (4): PRPS2 (ENSG00000101911), PRPS1 (ENSG00000147224), PRPSAP1 (ENSG00000161542), PRPS1L1 (ENSG00000229937)

Protein

Protein identifiers

Phosphoribosyl pyrophosphate synthase-associated protein 2 — O60256 (reviewed: O60256)

Alternative names: 41 kDa phosphoribosypyrophosphate synthetase-associated protein

All UniProt accessions (15): C9JDH0, C9JDU5, C9JJS3, C9K0K7, E7EPA1, O60256, E7EW35, I3L0S1, I3L164, I3L1T1, I3L275, I3L2J4, I3L331, I3L3B8, I3L4G9

UniProt curated annotations — full annotation on UniProt →

Function. Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.

Subunit / interactions. Binds to PRPS1 and PRPS2.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the ribose-phosphate pyrophosphokinase family.

Isoforms (4)

UniProt ID	Names	Canonical?
O60256-1	1	yes
O60256-2	2
O60256-3	3
O60256-4	4

RefSeq proteins (17): NP_001230865, NP_001230869, NP_001230870, NP_001230871, NP_001340025, NP_001340026, NP_001340027, NP_001340028, NP_001340029, NP_001340030, NP_001340031, NP_001340032, NP_001340033, NP_001340034, NP_001340035, NP_001340036, NP_002758* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000836	PRTase_dom	Domain
IPR005946	Rib-P_diPkinase	Family
IPR029057	PRTase-like	Homologous_superfamily
IPR029099	Pribosyltran_N	Domain

Pfam: PF13793, PF14572

UniProt features (39 total): strand 16, helix 13, modified residue 5, splice variant 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2JI4	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60256-F1	87.52	0.73

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 (5): 1, 5, 219, 227, 233

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 114 (showing top): BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_BONE_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, SCHLOSSER_SERUM_RESPONSE_DN, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, MODULE_207

GO Biological Process (5): 5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015), nucleobase-containing compound metabolic process (GO:0006139), purine nucleotide biosynthetic process (GO:0006164), bone development (GO:0060348), nucleotide biosynthetic process (GO:0009165)

GO Molecular Function (5): magnesium ion binding (GO:0000287), enzyme inhibitor activity (GO:0004857), enzyme regulator activity (GO:0030234), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	2
ribose phosphate biosynthetic process	1
5-phosphoribose 1-diphosphate metabolic process	1
primary metabolic process	1
purine nucleotide metabolic process	1
nucleotide biosynthetic process	1
purine-containing compound biosynthetic process	1
skeletal system development	1
animal organ development	1
nucleotide metabolic process	1
nucleoside phosphate biosynthetic process	1
metal ion binding	1
enzyme regulator activity	1
molecular function inhibitor activity	1
molecular function regulator activity	1
protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRPSAP2	MSMB	P08118	649
PRPSAP2	PRPS2	P11908	447
PRPSAP2	SLC38A10	Q9HBR0	446
PRPSAP2	PRPS1	P09329	442
PRPSAP2	MIGA2	Q7L4E1	435
PRPSAP2	GID4	Q8IVV7	417
PRPSAP2	RWDD2A	Q9UIY3	390
PRPSAP2	TM7SF3	Q9NS93	383
PRPSAP2	C14orf119	Q9NWQ9	382
PRPSAP2	MEAK7	Q6P9B6	373
PRPSAP2	BBX	Q8WY36	373
PRPSAP2	TMEM109	Q9BVC6	371
PRPSAP2	LNPK	Q9C0E8	366
PRPSAP2	DRC8	Q5VUJ9	363
PRPSAP2	C22orf39	Q6P5X5	360
PRPSAP2	IFTAP	Q86VG3	360

IntAct

99 interactions, top by confidence:

A	B	Type	Score
PRPS1	PRPSAP2	psi-mi:“MI:0914”(association)	0.840
PRPSAP2	PRPS1	psi-mi:“MI:0915”(physical association)	0.840
PRPSAP2	PRPSAP1	psi-mi:“MI:0915”(physical association)	0.740
PRPSAP1	PRPSAP2	psi-mi:“MI:0914”(association)	0.740
NCK1	NCK2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PRPS2	PRPSAP2	psi-mi:“MI:0914”(association)	0.670
PRPSAP2	PRPS2	psi-mi:“MI:0915”(physical association)	0.670
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
PRPSAP1	PRPSAP2	psi-mi:“MI:0914”(association)	0.610
PRPSAP2	PRPSAP1	psi-mi:“MI:0915”(physical association)	0.610
PRPSAP2	TEX11	psi-mi:“MI:0915”(physical association)	0.560
PRPSAP2	PRPSAP2	psi-mi:“MI:0915”(physical association)	0.560
PRPSAP2	CCNB1	psi-mi:“MI:0914”(association)	0.530
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
PRPSAP2	PRPS2	psi-mi:“MI:0914”(association)	0.530
PRPSAP1	PRPSAP2	psi-mi:“MI:0915”(physical association)	0.480
PRPSAP2	HIST2H2BF	psi-mi:“MI:0915”(physical association)	0.400
MAST3	PRPSAP2	psi-mi:“MI:0914”(association)	0.350
NFKB1	NFKB1	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (133): PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Co-fractionation), PRPSAP2 (Co-fractionation), PRPSAP2 (Co-fractionation), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), PRPSAP2 (Affinity Capture-MS), IVNS1ABP (Affinity Capture-MS)

ESM2 similar proteins: A1UQU4, A2VDS0, A6ZME2, B3LLX6, C7GL41, C8ZET8, F4I1A6, O08618, O14081, O14145, O60256, O65583, O74427, P0CF18, P0DC00, P0DC01, P27515, P32895, P41831, P60314, P87171, Q06GM8, Q08DW2, Q14558, Q28DH0, Q54QU9, Q5RBA8, Q5XC85, Q5XH12, Q5ZL26, Q63468, Q6G1B4, Q75JN8, Q7L7V1, Q8DU94, Q8DZK4, Q8E568, Q8P137, Q8R574, Q8VYB2

Diamond homologs: A2VDS0, A6W1C7, O08618, O33924, O60256, O67556, O94413, P09330, P0A1V6, P0A1V7, P0A717, P0A718, P0A719, P11908, P14193, P21108, P32895, P38063, P38620, P38689, P41831, P42816, P44328, P46585, P56184, P57266, P60891, P60892, P65234, P65235, P65236, P65237, P65238, P65239, P65240, P87171, Q08DW2, Q14558, Q1LTH2, Q28DH0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
EPHB-mediated forward signaling	7	26.9×	1e-06
Signaling by SCF-KIT	7	25.2×	1e-06
FCERI mediated MAPK activation	5	25.1×	7e-05
Parasite infection	5	25.1×	7e-05
Leishmania phagocytosis	5	25.1×	7e-05
FCGR3A-mediated phagocytosis	9	24.4×	3e-08
Fcgamma receptor (FCGR) dependent phagocytosis	6	24.2×	1e-05
RHO GTPases Activate WASPs and WAVEs	5	23.0×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
Fc-gamma receptor signaling pathway involved in phagocytosis	5	41.8×	9e-05
positive regulation of actin filament polymerization	6	23.6×	9e-05
ephrin receptor signaling pathway	5	20.5×	8e-04
regulation of actin cytoskeleton organization	6	11.2×	2e-03
MAPK cascade	5	9.1×	9e-03
endocytosis	7	7.9×	3e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	7	6.5×	6e-03
intracellular signal transduction	13	5.9×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2187 predictions. Top by Δscore:

Variant	Effect	Δscore
17:18858223:C:G	donor_gain	1.0000
17:18865796:TTCTA:T	acceptor_loss	1.0000
17:18865797:TCTAG:T	acceptor_loss	1.0000
17:18865799:TAGG:T	acceptor_loss	1.0000
17:18865800:A:AG	acceptor_gain	1.0000
17:18865801:G:GA	acceptor_loss	1.0000
17:18865801:G:GG	acceptor_gain	1.0000
17:18865948:GCAGA:G	donor_gain	1.0000
17:18865949:CAGA:C	donor_gain	1.0000
17:18865950:AGA:A	donor_gain	1.0000
17:18865950:AGAGT:A	donor_loss	1.0000
17:18865951:GA:G	donor_gain	1.0000
17:18865951:GAG:G	donor_gain	1.0000
17:18865952:AG:A	donor_loss	1.0000
17:18865953:G:GG	donor_gain	1.0000
17:18865954:T:G	donor_loss	1.0000
17:18865955:GAG:G	donor_loss	1.0000
17:18865956:AGT:A	donor_loss	1.0000
17:18865957:G:C	donor_loss	1.0000
17:18872577:T:A	acceptor_gain	1.0000
17:18872645:TCGAA:T	donor_gain	1.0000
17:18872647:GAA:G	donor_gain	1.0000
17:18872648:AA:A	donor_gain	1.0000
17:18872648:AAG:A	donor_loss	1.0000
17:18872649:AG:A	donor_loss	1.0000
17:18872650:G:GG	donor_gain	1.0000
17:18872651:TG:T	donor_loss	1.0000
17:18872652:G:GT	donor_loss	1.0000
17:18872653:AG:A	donor_loss	1.0000
17:18877693:TACA:T	acceptor_loss	1.0000

AlphaMissense

2430 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:18882615:G:C	G154R	1.000
17:18889850:T:A	V186E	1.000
17:18889853:C:A	A187D	1.000
17:18911116:G:C	A200P	1.000
17:18911117:C:A	A200D	1.000
17:18911141:C:A	A208E	1.000
17:18923959:T:A	V260D	1.000
17:18923974:C:A	A265D	1.000
17:18928860:T:C	L285P	1.000
17:18930547:T:A	V320D	1.000
17:18930630:G:C	A348P	1.000
17:18930637:G:C	R350P	1.000
17:18930640:G:C	R351P	1.000
17:18930672:T:C	F362L	1.000
17:18930674:C:A	F362L	1.000
17:18930674:C:G	F362L	1.000
17:18872613:G:T	R68M	0.999
17:18877744:T:C	C96R	0.999
17:18877760:C:A	A101D	0.999
17:18877775:G:A	G106D	0.999
17:18877784:C:A	P109H	0.999
17:18877784:C:G	P109R	0.999
17:18877824:A:C	R122S	0.999
17:18877824:A:T	R122S	0.999
17:18877850:C:A	A131D	0.999
17:18882591:G:C	D146H	0.999
17:18882592:A:C	D146A	0.999
17:18882592:A:T	D146V	0.999
17:18882616:G:A	G154D	0.999
17:18882618:T:C	F155L	0.999

dbSNP variants (sampled 300 via entrez): RS1000061135 (17:18923355 C>T), RS1000072113 (17:18930853 G>A), RS1000117383 (17:18863691 C>A), RS1000127493 (17:18897449 AGTG>A), RS1000173733 (17:18859505 C>T), RS1000211627 (17:18865270 G>A,T), RS1000228313 (17:18858963 C>T), RS1000259779 (17:18891082 G>A,T), RS1000264175 (17:18909315 C>A), RS1000386002 (17:18922478 G>A), RS1000408724 (17:18930482 C>A,G), RS1000418005 (17:18871350 C>T), RS1000508898 (17:18877250 A>G), RS1000549556 (17:18883932 A>G), RS1000575212 (17:18889349 AT>A)

Disease associations

OMIM: gene MIM:603762 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000745_8	Pancreatic cancer	8.000000e-06
GCST90002397_734	Mean spheric corpuscular volume	4.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2646 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Particulate Matter	decreases expression, increases abundance	2
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	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, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
LDN 193189	increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Vehicle Emissions	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Indomethacin	affects cotreatment, decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL763637	Binding	Inhibitory activity against PRPP synthetase	Design, synthesis, and biological evaluation of novel nucleoside and nucleotide analogues as agents against DNA viruses and/or retroviruses. — J Med Chem

Clinical trials (associated diseases)

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