SBNO1

Summary

SBNO1 (strawberry notch homolog 1, HGNC:22973) is a protein-coding gene on chromosome 12q24.31, encoding Protein strawberry notch homolog 1 (A3KN83). Plays a crucial role in the regulation of neural stem cells (NSCs) proliferation. It is a common-essential gene (DepMap: required in 99.6% of cancer cell lines).

Predicted to enable chromatin DNA binding activity and histone binding activity. Predicted to be involved in several processes, including negative regulation of neuroinflammatory response; positive regulation of neural precursor cell proliferation; and regulation of signal transduction. Predicted to be active in nucleus.

Source: NCBI Gene 55206 — RefSeq curated summary.

At a glance

• GWAS associations: 56
• Clinical variants (ClinVar): 171 total
• Cancer dependency (DepMap): dependent in 99.6% of screened cell lines (common-essential)
• MANE Select transcript: NM_001167856

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22973
Approved symbol	SBNO1
Name	strawberry notch homolog 1
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	MOP3, FLJ10701, FLJ10833, Sno
Ensembl gene	ENSG00000139697
Ensembl biotype	protein_coding
OMIM	614274
Entrez	55206

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000267176, ENST00000420886, ENST00000602398, ENST00000934414, ENST00000934415, ENST00000934416, ENST00000934417, ENST00000934418, ENST00000934419, ENST00000934420, ENST00000949125

RefSeq mRNA: 2 — MANE Select: NM_001167856 NM_001167856, NM_018183

CCDS: CCDS53844, CCDS9246

Canonical transcript exons

ENST00000602398 — 32 exons

Exon	Start	End
ENSE00001187851	123321535	123321732
ENSE00001290648	123327892	123328027
ENSE00001294207	123327426	123327579
ENSE00001298669	123336395	123336491
ENSE00001301248	123323680	123323831
ENSE00001307239	123330419	123330509
ENSE00001308196	123334053	123334213
ENSE00001309994	123327707	123327812
ENSE00001313802	123326152	123326334
ENSE00001316012	123348029	123348133
ENSE00001319948	123340988	123341088
ENSE00001321225	123325502	123325599
ENSE00001322352	123328734	123328895
ENSE00001328977	123331242	123331375
ENSE00001617943	123289109	123296050
ENSE00001758407	123345258	123345570
ENSE00002217919	123319900	123320031
ENSE00002222966	123304582	123304719
ENSE00002224861	123320432	123320607
ENSE00002236002	123302824	123302900
ENSE00002236594	123315548	123315660
ENSE00002252889	123320699	123320866
ENSE00002265332	123309710	123309856
ENSE00002265504	123309489	123309583
ENSE00002266447	123311055	123311129
ENSE00002280865	123309310	123309402
ENSE00002283375	123313620	123313719
ENSE00002283985	123297978	123298171
ENSE00002293824	123315373	123315444
ENSE00002308313	123317221	123317356
ENSE00003384830	123364701	123364847
ENSE00003755670	123350310	123350441

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 94.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.1630 / max 134.9962, expressed in 1782 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133940	13.1630	1782
133936	2.2647	899
133941	1.6760	841
133938	0.5162	233
133937	0.2159	61
133939	0.1242	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.22	gold quality
postcentral gyrus	UBERON:0002581	94.15	gold quality
parietal lobe	UBERON:0001872	93.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.09	gold quality
cardia of stomach	UBERON:0001162	93.08	gold quality
nipple	UBERON:0002030	92.73	gold quality
vena cava	UBERON:0004087	92.44	silver quality
middle temporal gyrus	UBERON:0002771	91.80	gold quality
inferior vagus X ganglion	UBERON:0005363	91.78	gold quality
entorhinal cortex	UBERON:0002728	91.58	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.49	gold quality
ventral tegmental area	UBERON:0002691	91.48	gold quality
trabecular bone tissue	UBERON:0002483	91.39	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.37	gold quality
pons	UBERON:0000988	91.13	gold quality
superior vestibular nucleus	UBERON:0007227	90.90	gold quality
subthalamic nucleus	UBERON:0001906	90.82	gold quality
body of tongue	UBERON:0011876	90.82	gold quality
substantia nigra pars compacta	UBERON:0001965	90.72	gold quality
lateral globus pallidus	UBERON:0002476	90.66	gold quality
superior frontal gyrus	UBERON:0002661	90.38	gold quality
pylorus	UBERON:0001166	90.12	gold quality
saphenous vein	UBERON:0007318	90.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.88	gold quality
superior surface of tongue	UBERON:0007371	89.87	gold quality
globus pallidus	UBERON:0001875	89.70	gold quality
superficial temporal artery	UBERON:0001614	89.61	gold quality
renal medulla	UBERON:0000362	89.40	gold quality
dorsal root ganglion	UBERON:0000044	89.39	gold quality
medial globus pallidus	UBERON:0002477	89.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	1209.56
E-GEOD-134144	yes	31.25
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

242 targeting SBNO1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4789-5P	99.98	70.76	2721

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.6% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• Enhanced expression of Cdx2 by stimulation with bile acids may induce intestinal differentiation of esophageal columnar cells by interaction with the Notch signaling pathway. (PMID:22449796)
• Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma. (PMID:36695974)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sbno1	ENSDARG00000099080
mus_musculus	Sbno1	ENSMUSG00000038095
rattus_norvegicus	Sbno1	ENSRNOG00000001064

Paralogs (1): SBNO2 (ENSG00000064932)

Protein

Protein identifiers

Protein strawberry notch homolog 1 — A3KN83 (reviewed: A3KN83)

Alternative names: Monocyte protein 3

All UniProt accessions (1): A3KN83

UniProt curated annotations — full annotation on UniProt →

Function. Plays a crucial role in the regulation of neural stem cells (NSCs) proliferation. Enhances the phosphorylation of GSK3B through the PI3K-Akt signaling pathway, thereby upregulating the Wnt/beta-catenin signaling pathway and promoting the proliferation of NSCs. Improves ischemic stroke recovery while inhibiting neuroinflammation through small extracellular vesicles (sEVs)-mediated mechanism. Enhances the secretion of sEVs from NSCs, which in turn inhibit both the MAPK and NF-kappaB pathways in microglia. This inhibition suppresses the pro-inflammatory M1 polarization of microglia, promoting a shift towards the M2 anti-inflammatory phenotype, which is beneficial for reducing neuroinflammation.

Subcellular location. Nucleus.

Similarity. Belongs to the SBNO family.

Isoforms (4)

UniProt ID	Names	Canonical?
A3KN83-1	1	yes
A3KN83-2	2
A3KN83-3	3
A3KN83-4	4

RefSeq proteins (2): NP_001161328, NP_060653 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026741	SNO	Family
IPR026937	SBNO_Helicase_C_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR039187	SNO_AAA	Domain
IPR057332	SBNO_a/b_dom	Domain

Pfam: PF13871, PF13872, PF25373

UniProt features (37 total): modified residue 15, sequence variant 5, compositionally biased region 5, splice variant 4, sequence conflict 4, region of interest 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A3KN83-F1	68.08	0.19

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 (15): 149, 162, 214, 413, 692, 693, 697, 754, 755, 768, 794, 815, 1222, 1386, 148

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 226 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, MODULE_97, GOBP_INFLAMMATORY_RESPONSE, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, MODULE_182, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_205, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_POSITIVE_REGULATION_OF_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_DEFENSE_RESPONSE

GO Biological Process (9): regulation of DNA-templated transcription (GO:0006355), inflammatory response (GO:0006954), Wnt signaling pathway (GO:0016055), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), negative regulation of MAPK cascade (GO:0043409), positive regulation of canonical Wnt signaling pathway (GO:0090263), negative regulation of neuroinflammatory response (GO:0150079), positive regulation of neural precursor cell proliferation (GO:2000179), positive regulation of signal transduction (GO:0009967)

GO Molecular Function (2): chromatin DNA binding (GO:0031490), histone binding (GO:0042393)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of intracellular signal transduction	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
defense response	1
cell surface receptor signaling pathway	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
negative regulation of inflammatory response	1
neuroinflammatory response	1
regulation of neuroinflammatory response	1
positive regulation of cell population proliferation	1
neural precursor cell proliferation	1
regulation of neural precursor cell proliferation	1
signal transduction	1
regulation of signal transduction	1
positive regulation of cell communication	1
positive regulation of signaling	1
positive regulation of response to stimulus	1
DNA binding	1
chromatin binding	1
protein binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1360 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SBNO1	RASGEF1A	Q8N9B8	812
SBNO1	RIOX1	Q9H6W3	796
SBNO1	RIOK1	Q9BRS2	795
SBNO1	TGFBRAP1	Q8WUH2	789
SBNO1	PBDC1	Q9BVG4	531
SBNO1	TRRAP	Q9Y4A5	528
SBNO1	NUCLEOLIN	P19338	497
SBNO1	NPM1	P06748	428
SBNO1	OGFOD2	Q6N063	419
SBNO1	PITPNM2	Q9BZ72	392
SBNO1	MPHOSPH9	Q99550	391
SBNO1	SBNO2	Q9Y2G9	388
SBNO1	H4C7	Q99525	388
SBNO1	H4C16	P02304	386
SBNO1	MACO1	Q8N5G2	373

IntAct

57 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
rep	SBNO1	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
SBNO1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
GSK3A	SBNO1	psi-mi:“MI:0915”(physical association)	0.370
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
NTAQ1	SBNO1	psi-mi:“MI:0914”(association)	0.350
CEACAM16	SBNO1	psi-mi:“MI:0914”(association)	0.350
SBNO1	HSPA2	psi-mi:“MI:0914”(association)	0.350
BBS1	SHTN1	psi-mi:“MI:0914”(association)	0.350
ANKRD49	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
PRKAR1A	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
HSPA8	SBNO1	psi-mi:“MI:0914”(association)	0.350
ACRBP	SBNO1	psi-mi:“MI:0914”(association)	0.350
ACTR3B	SBNO1	psi-mi:“MI:0914”(association)	0.350
MILR1	SBNO1	psi-mi:“MI:0914”(association)	0.350
SMAD4	SBNO1	psi-mi:“MI:0914”(association)	0.350
ZNF444	SBNO1	psi-mi:“MI:0914”(association)	0.350
TLK2	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
BUD13	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HNRNPC	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
ILF3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
LARP7	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
LIN28B	MEX3A	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (87): RBM25 (Co-fractionation), RTN4 (Co-fractionation), SBNO1 (Co-fractionation), SBNO1 (Co-fractionation), SBNO1 (Co-fractionation), SBNO1 (Co-fractionation), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), SBNO1 (Affinity Capture-MS), IVNS1ABP (Affinity Capture-MS)

ESM2 similar proteins: A0A0L0P4F8, A3KN83, A8XEA2, A9Q1D5, A9UL78, B2GUV7, G5EDG2, O17966, O36966, O95251, P04786, P07799, P0CL88, P0CL89, P11387, P30181, P30189, P41511, P41512, P93119, Q00313, Q04750, Q05D44, Q06698, Q07050, Q09475, Q23243, Q23541, Q27746, Q4IEV4, Q4P3S3, Q54RC3, Q54UU6, Q5BJL5, Q5F1R6, Q5F371, Q5SVQ0, Q5UQH6, Q61T02, Q689Z5

Diamond homologs: A0JND4, A3KN83, A8JUV0, F4IF36, O01737, Q5BJL5, Q5F371, Q689Z5, Q7TNB8, Q9Y2G9, A1YVX4, A6H619, A8DZJ1, P41229, P41230, P47156, P58268, P58269, P58270, Q30DN6, Q38JA7, Q5F3R2, Q5XUN4, Q63625, Q6IQX0, Q80Y84, Q92782, Q92784, Q9BY66, Q9FNE9, Q9P1Y6, Q9QX66, Q9UGL1, Q9VMJ7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
mRNA Splicing - Major Pathway	8	11.8×	9e-05
Processing of Capped Intron-Containing Pre-mRNA	5	11.1×	4e-03
Dengue Virus-Host Interactions	8	9.9×	2e-04
Metabolism of RNA	6	6.8×	5e-03
Viral Infection Pathways	7	5.8×	5e-03
Infectious disease	8	5.4×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
RNA splicing	8	13.1×	7e-05
mRNA splicing, via spliceosome	7	11.9×	4e-04
mRNA processing	7	10.2×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	118
Likely benign	7
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

4350 predictions. Top by Δscore:

Variant	Effect	Δscore
12:123295837:C:A	donor_gain	1.0000
12:123297973:CTCA:C	donor_loss	1.0000
12:123297974:TCA:T	donor_loss	1.0000
12:123297975:CAC:C	donor_loss	1.0000
12:123297976:A:AC	donor_gain	1.0000
12:123297976:ACC:A	donor_loss	1.0000
12:123297977:C:CC	donor_gain	1.0000
12:123297977:CCTA:C	donor_gain	1.0000
12:123302898:GACC:G	acceptor_loss	1.0000
12:123302901:CTGT:C	acceptor_loss	1.0000
12:123302902:T:A	acceptor_loss	1.0000
12:123304632:T:TA	donor_gain	1.0000
12:123304633:C:A	donor_gain	1.0000
12:123309308:A:AC	donor_gain	1.0000
12:123309309:C:CC	donor_gain	1.0000
12:123309398:CTAAT:C	acceptor_gain	1.0000
12:123309483:ACTT:A	donor_loss	1.0000
12:123309485:TTA:T	donor_loss	1.0000
12:123309486:TAC:T	donor_loss	1.0000
12:123309487:A:AC	donor_gain	1.0000
12:123309487:ACT:A	donor_loss	1.0000
12:123309488:C:CT	donor_gain	1.0000
12:123309488:CT:C	donor_gain	1.0000
12:123309488:CTG:C	donor_gain	1.0000
12:123309488:CTGT:C	donor_gain	1.0000
12:123309581:GAT:G	acceptor_gain	1.0000
12:123309582:ATC:A	acceptor_loss	1.0000
12:123309584:C:CC	acceptor_gain	1.0000
12:123309584:CTTGA:C	acceptor_loss	1.0000
12:123309585:T:C	acceptor_gain	1.0000

AlphaMissense

9152 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:123296050:C:T	G1347D	1.000
12:123297978:C:G	G1347R	1.000
12:123298007:A:G	L1337P	1.000
12:123298074:A:G	W1315R	1.000
12:123298074:A:T	W1315R	1.000
12:123298119:G:T	R1300S	1.000
12:123298124:C:T	G1298D	1.000
12:123298125:C:G	G1298R	1.000
12:123298132:A:C	C1295W	1.000
12:123298133:C:A	C1295F	1.000
12:123298133:C:G	C1295S	1.000
12:123298133:C:T	C1295Y	1.000
12:123298134:A:G	C1295R	1.000
12:123298134:A:T	C1295S	1.000
12:123298159:G:C	C1286W	1.000
12:123298160:C:A	C1286F	1.000
12:123298160:C:G	C1286S	1.000
12:123298160:C:T	C1286Y	1.000
12:123298161:A:G	C1286R	1.000
12:123298161:A:T	C1286S	1.000
12:123302832:A:C	H1279Q	1.000
12:123302832:A:T	H1279Q	1.000
12:123302838:A:C	C1277W	1.000
12:123302839:C:A	C1277F	1.000
12:123302839:C:G	C1277S	1.000
12:123302839:C:T	C1277Y	1.000
12:123302840:A:G	C1277R	1.000
12:123302840:A:T	C1277S	1.000
12:123302873:A:G	W1266R	1.000
12:123302873:A:T	W1266R	1.000

dbSNP variants (sampled 300 via entrez): RS1000032716 (12:123298038 C>T), RS1000081021 (12:123339110 T>TA), RS1000081091 (12:123340769 C>T), RS1000090606 (12:123303276 G>T), RS1000129872 (12:123338947 G>A,T), RS1000183535 (12:123302982 G>A), RS1000199695 (12:123360844 G>A), RS1000228289 (12:123322835 G>A), RS1000247856 (12:123308738 C>G), RS1000251977 (12:123346315 C>T), RS1000257020 (12:123316805 C>G), RS1000283205 (12:123346044 G>A), RS1000288048 (12:123316561 C>G), RS1000349688 (12:123344423 T>C,G), RS1000387224 (12:123355241 G>A,C,T)

Disease associations

OMIM: gene MIM:614274 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

56 associations (top):

Study	Trait	p-value
GCST000755_12	HDL cholesterol	8.000000e-09
GCST000817_78	Height	4.000000e-15
GCST001484_3	Head circumference (infant)	8.000000e-09
GCST002149_20	Schizophrenia	2.000000e-08
GCST002223_50	HDL cholesterol	3.000000e-08
GCST002539_19	Schizophrenia	2.000000e-14
GCST002598_15	Educational attainment	7.000000e-08
GCST002647_149	Height	1.000000e-26
GCST003990_9	Allergy	1.000000e-11
GCST004232_25	HDL cholesterol levels	5.000000e-17
GCST004232_44	HDL cholesterol levels	6.000000e-06
GCST004234_12	HDL cholesterol levels	6.000000e-10
GCST004521_72	Autism spectrum disorder or schizophrenia	8.000000e-12
GCST004633_28	Neutrophil percentage of white cells	3.000000e-09
GCST006020_33	Diastolic blood pressure	3.000000e-08
GCST006611_125	HDL cholesterol	2.000000e-24
GCST006803_10	Schizophrenia	6.000000e-16
GCST006925_3	Knee osteoarthritis	2.000000e-08
GCST007094_121	Diastolic blood pressure	2.000000e-11
GCST007277_17	Tourette syndrome	2.000000e-06
GCST008070_122	HDL cholesterol levels	3.000000e-14
GCST008070_57	HDL cholesterol levels	3.000000e-17
GCST008075_160	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-29
GCST008075_213	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-13
GCST008075_45	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-14
GCST008084_10	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-15
GCST008084_211	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-31
GCST008084_73	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-15
GCST008085_152	HDL cholesterol levels in current drinkers	2.000000e-10
GCST008085_53	HDL cholesterol levels in current drinkers	9.000000e-24

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004784	self reported educational attainment
EFO:0007990	neutrophil percentage of leukocytes
EFO:0006336	diastolic blood pressure
EFO:0004329	alcohol drinking
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004587	lymphocyte count
EFO:0004833	neutrophil count
EFO:0007985	platelet crit
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
trichostatin A	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	decreases expression	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
zinc chloride	increases expression	1
sodium arsenite	increases expression	1
zinc chromate	increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
cupric oxide	increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Calcitriol	decreases expression	1
Cisplatin	decreases expression	1
Diethylstilbestrol	decreases expression	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer