PLB1

Summary

PLB1 (phospholipase B1, HGNC:30041) is a protein-coding gene on chromosome 2p23.2, encoding Phospholipase B1, membrane-associated (Q6P1J6). Calcium-independent membrane-associated phospholipase that catalyzes complete diacylation of phospholipids by hydrolyzing both sn-1 and sn-2 fatty acyl chains attached to the glycerol backbone (phospholipase B activity).

This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene.

Source: NCBI Gene 151056 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 312 total
• MANE Select transcript: NM_153021

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30041
Approved symbol	PLB1
Name	phospholipase B1
Location	2p23.2
Locus type	gene with protein product
Status	Approved
Aliases	PLB, FLJ30866
Ensembl gene	ENSG00000163803
Ensembl biotype	protein_coding
OMIM	610179
Entrez	151056

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000327757, ENST00000404858, ENST00000411743, ENST00000416713, ENST00000422425, ENST00000436544, ENST00000436775, ENST00000444257, ENST00000473272, ENST00000479065, ENST00000481449, ENST00000485642

RefSeq mRNA: 2 — MANE Select: NM_153021 NM_001170585, NM_153021

CCDS: CCDS33168, CCDS54340

Canonical transcript exons

ENST00000327757 — 58 exons

Exon	Start	End
ENSE00001078385	28582405	28582505
ENSE00001078386	28579627	28579707
ENSE00001078387	28591700	28591760
ENSE00001078388	28585761	28585842
ENSE00001078392	28591133	28591171
ENSE00001078393	28582068	28582133
ENSE00001302188	28552928	28552991
ENSE00001322493	28642858	28644142
ENSE00001324940	28550010	28550084
ENSE00001333088	28601899	28601964
ENSE00001403153	28578107	28578158
ENSE00001403804	28593681	28593754
ENSE00001412324	28563041	28563099
ENSE00001418167	28565280	28565353
ENSE00001418740	28566796	28566839
ENSE00001427014	28592661	28592719
ENSE00001481762	28605853	28605948
ENSE00001481763	28604655	28604759
ENSE00001481764	28603966	28604047
ENSE00001481766	28601252	28601332
ENSE00001481768	28600809	28600860
ENSE00001481769	28598652	28598760
ENSE00001481772	28598005	28598048
ENSE00001592223	28529728	28529779
ENSE00001600866	28519705	28519763
ENSE00001617092	28525905	28525945
ENSE00001629231	28543212	28543268
ENSE00001637901	28532108	28532194
ENSE00001653808	28538319	28538381
ENSE00001703867	28525267	28525307
ENSE00001747292	28540366	28540441
ENSE00001763752	28539099	28539178
ENSE00001788072	28529317	28529407
ENSE00001794847	28548860	28548931
ENSE00001802581	28541707	28541811
ENSE00003467002	28625057	28625108
ENSE00003480710	28628563	28628628
ENSE00003494109	28620265	28620332
ENSE00003497779	28518466	28518532
ENSE00003509530	28589675	28589770
ENSE00003516890	28620600	28620643
ENSE00003522966	28632036	28632140
ENSE00003525088	28589450	28589554
ENSE00003544139	28573197	28573305
ENSE00003560333	28620879	28620978
ENSE00003573546	28626428	28626508
ENSE00003598447	28617727	28617787
ENSE00003599607	28629094	28629185
ENSE00003611457	28606496	28606567
ENSE00003621474	28614031	28614096
ENSE00003624512	28632944	28633039
ENSE00003636039	28640927	28641001
ENSE00003659966	28602821	28602921
ENSE00003661646	28618341	28618399
ENSE00003679223	28516808	28516869
ENSE00003687713	28630586	28630664
ENSE00003692166	28590005	28590076
ENSE00003850674	28496060	28496169

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 91.15.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0631 / max 140.7282, expressed in 359 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19469	1.8369	321
19473	0.0594	23
19460	0.0550	5
19468	0.0398	16
19470	0.0374	14
19472	0.0344	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	91.15	gold quality
monocyte	CL:0000576	88.17	gold quality
leukocyte	CL:0000738	87.83	gold quality
ileal mucosa	UBERON:0000331	87.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.26	gold quality
blood	UBERON:0000178	86.21	gold quality
small intestine	UBERON:0002108	83.20	gold quality
granulocyte	CL:0000094	82.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.71	gold quality
upper arm skin	UBERON:0004263	82.60	gold quality
descending thoracic aorta	UBERON:0002345	81.51	gold quality
spleen	UBERON:0002106	81.40	gold quality
right coronary artery	UBERON:0001625	80.93	gold quality
vermiform appendix	UBERON:0001154	80.83	gold quality
smooth muscle tissue	UBERON:0001135	80.60	gold quality
right adrenal gland cortex	UBERON:0035827	80.56	gold quality
bone marrow cell	CL:0002092	80.36	gold quality
right adrenal gland	UBERON:0001233	79.90	gold quality
bone marrow	UBERON:0002371	79.56	gold quality
thoracic aorta	UBERON:0001515	79.16	gold quality
ascending aorta	UBERON:0001496	79.09	gold quality
right lung	UBERON:0002167	78.21	gold quality
adrenal gland	UBERON:0002369	77.77	gold quality
left uterine tube	UBERON:0001303	77.58	gold quality
left adrenal gland cortex	UBERON:0035825	77.54	gold quality
left coronary artery	UBERON:0001626	77.47	gold quality
left adrenal gland	UBERON:0001234	77.41	gold quality
adrenal cortex	UBERON:0001235	77.15	gold quality
caecum	UBERON:0001153	77.09	gold quality
coronary artery	UBERON:0001621	77.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.28

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIRA

miRNA regulators (miRDB)

24 targeting PLB1, 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-4482-3P	99.98	72.50	3147
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-487A-5P	98.85	69.37	993
HSA-MIR-487B-5P	98.85	69.48	987
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-4529-3P	96.40	66.46	582
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-4740-5P	96.25	67.96	726
HSA-MIR-3162-5P	95.67	67.53	794
HSA-MIR-1256	95.44	66.33	784
HSA-MIR-5009-5P	94.82	63.89	775
HSA-MIR-8058	94.76	63.41	632
HSA-MIR-135A-3P	94.19	66.09	495
HSA-MIR-1269A	92.75	64.61	542
HSA-MIR-1269B	92.75	64.73	538

Literature-anchored findings (GeneRIF, showing 3)

• identification of epidermis as a site of expression (PMID:12150957)
• PLB1 is a candidate risk gene for rheumatoid arthritis. (PMID:24520335)
• rs117512489 in gene phospholipase B1 gene is associated with Non-Small Cell Lung Cancer. (PMID:28104536)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	plb1	ENSDARG00000096445
mus_musculus	Plb1	ENSMUSG00000029134
rattus_norvegicus	Plb1	ENSRNOG00000026037
drosophila_melanogaster	CG11029	FBGN0031735
drosophila_melanogaster	CG7365	FBGN0036939
caenorhabditis_elegans		WBGENE00008621
caenorhabditis_elegans	F36A2.9	WBGENE00009456
caenorhabditis_elegans		WBGENE00011092
caenorhabditis_elegans		WBGENE00011093
caenorhabditis_elegans		WBGENE00012201
caenorhabditis_elegans		WBGENE00017443
caenorhabditis_elegans		WBGENE00020575
caenorhabditis_elegans		WBGENE00021493
caenorhabditis_elegans	Y65B4BR.1	WBGENE00022040
caenorhabditis_elegans		WBGENE00022256

Protein

Protein identifiers

Phospholipase B1, membrane-associated — Q6P1J6 (reviewed: Q6P1J6)

Alternative names: Lysophospholipase, Phospholipase A2, Phospholipase B/lipase, Triacylglycerol lipase

All UniProt accessions (7): C9JYQ2, H7BYX7, H7BZW4, H7C012, H7C1D3, H7C2A5, Q6P1J6

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-independent membrane-associated phospholipase that catalyzes complete diacylation of phospholipids by hydrolyzing both sn-1 and sn-2 fatty acyl chains attached to the glycerol backbone (phospholipase B activity). Has dual phospholipase and lysophospholipase activities toward diacylphospholipids. Preferentially cleaves sn-2 ester bonds over sn-1 bonds. Acts as a lipase toward glycerolipid substrates. Hydrolyzes fatty acyl chains of diacylglycerols with preference for the sn-2 position and of triacylglycerols with not positional selectivity. May also hydrolyze long chain retinyl esters such as retinyl palmitate. May contribute to digestion of dietary phospholipids, glycerolipids and retinoids, facilitating lipid absorption at the brush border.

Subcellular location. Apical cell membrane.

Tissue specificity. Expressed in the epidermis (at protein level).

Post-translational modifications. Undergoes proteolytic cleavage in the ileum.

Domain organisation. Repeat 2 contains the catalytic domain.

Similarity. Belongs to the ‘GDSL’ lipolytic enzyme family. Phospholipase B1 subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6P1J6-1	1	yes
Q6P1J6-2	2
Q6P1J6-3	3
Q6P1J6-4	4
Q6P1J6-5	5

RefSeq proteins (2): NP_001164056, NP_694566* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001087	GDSL	Family
IPR008265	Lipase_GDSL_AS	Active_site
IPR035547	Phospholipase_B	Domain
IPR036514	SGNH_hydro_sf	Homologous_superfamily
IPR038885	PLB1	Family

Pfam: PF00657

Catalyzed reactions (Rhea), 12 shown:

• a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+) (RHEA:12044)
• a 1-acyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + a fatty acid + H(+) (RHEA:15177)
• a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
• a 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:36231)
• 1-(9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:38487)
• 2-(9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:38491)
• 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = di-(9Z)-octadecenoylglycerol + (9Z)-octadecenoate + H(+) (RHEA:38575)
• 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphocholine + (9Z)-octadecenoate + H(+) (RHEA:38779)
• 1,3-di-(9Z-octadecenoyl)-glycerol + H2O = 1-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoate + H(+) (RHEA:39939)
• 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
• 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = (9Z,12Z)-octadecadienoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:40811)
• 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:40911)

UniProt features (43 total): glycosylation site 13, splice variant 8, sequence variant 6, repeat 4, active site 3, region of interest 2, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P1J6-F1	82.18	0.48

Functional residue map

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

Catalytic / active sites (3): 400; 514; 655

Glycosylation sites (13): 173, 240, 493, 529, 590, 690, 783, 797, 809, 1055, 1113, 1275, 1378

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1482788	Acyl chain remodelling of PC
R-HSA-975634	Retinoid metabolism and transport

MSigDB gene sets: 120 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_RETINOL_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_CATABOLIC_PROCESS, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, LASTOWSKA_COAMPLIFIED_WITH_MYCN, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS

GO Biological Process (11): retinoid metabolic process (GO:0001523), phospholipid metabolic process (GO:0006644), triglyceride catabolic process (GO:0019433), phosphatidylglycerol catabolic process (GO:0034478), phosphatidylcholine catabolic process (GO:0034638), phosphatidylcholine acyl-chain remodeling (GO:0036151), phosphatidylethanolamine catabolic process (GO:0046338), diacylglycerol catabolic process (GO:0046340), positive regulation of acrosome reaction (GO:2000344), lipid metabolic process (GO:0006629), retinol metabolic process (GO:0042572)

GO Molecular Function (9): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), A2-type glycerophospholipase activity (GO:0004623), triacylglycerol lipase activity (GO:0004806), obsolete calcium-independent phospholipase A2 activity (GO:0047499), retinyl-palmitate esterase activity (GO:0050253), glycerophospholipase activity (GO:0004620), lipase activity (GO:0016298), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788)

GO Cellular Component (4): plasma membrane (GO:0005886), brush border membrane (GO:0031526), membrane (GO:0016020), apical plasma membrane (GO:0016324)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Visual phototransduction	1
Metabolism of fat-soluble vitamins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycerophospholipid catabolic process	3
carboxylic ester hydrolase activity	3
acylglycerol catabolic process	2
phosphatidylcholine metabolic process	2
diterpenoid metabolic process	1
lipid metabolic process	1
organophosphate metabolic process	1
triglyceride metabolic process	1
phosphatidylglycerol metabolic process	1
phosphatidylethanolamine metabolic process	1
diacylglycerol metabolic process	1
acrosome reaction	1
regulation of acrosome reaction	1
positive regulation of reproductive process	1
primary metabolic process	1
retinoid metabolic process	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
lysophospholipase A1 activity	1
glycerophospholipase activity	1
lipase activity	1
retinol metabolic process	1
phospholipase activity	1
hydrolase activity, acting on ester bonds	1
catalytic activity	1
hydrolase activity	1
membrane	1
cell periphery	1
brush border	1
apical plasma membrane	1
cell projection membrane	1
cellular anatomical structure	1
apical part of cell	1
plasma membrane region	1

Protein interactions and networks

STRING

816 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLB1	GPD1	P21695	749
PLB1	CRISP1	P54107	674
PLB1	APP	P05067	672
PLB1	TLR2	O60603	671
PLB1	CUBN	O60494	669
PLB1	IL4I1	Q96RQ9	662
PLB1	CRISP2	P16562	655
PLB1	EGFR	P00533	641
PLB1	CRISP3	P54108	619
PLB1	CD4	P01730	617
PLB1	POU2F3	Q9UKI9	575
PLB1	PLA2G2A	P14555	567
PLB1	SOD1	P00441	560
PLB1	QPCT	Q16769	540
PLB1	PNPLA6	Q8IY17	526

IntAct

3 interactions, top by confidence:

A	B	Type	Score
M		psi-mi:“MI:0914”(association)	0.350
PLB1	WDR47	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): PLB1 (Two-hybrid), PLB1 (Two-hybrid), PLB1 (Two-hybrid), PLB1 (Two-hybrid), CSGALNACT2 (Affinity Capture-MS), MPO (Affinity Capture-MS), IGHA2 (Affinity Capture-MS), WDR47 (Affinity Capture-MS), DEFA1B (Affinity Capture-MS), IFI30 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), PLB1 (Affinity Capture-Western), PLB1 (Two-hybrid), PLB1 (Two-hybrid)

ESM2 similar proteins: A0A0D3QS97, O02668, O18733, O54728, O70320, O88923, O94910, O95490, O97817, O97827, O97831, P03957, P09848, P0C6R3, P10959, P23613, P23953, P38568, P41245, P48794, P50282, P50757, Q02401, Q05017, Q06HQ7, Q3TTY0, Q3UV74, Q58DX5, Q5EA41, Q5GRG2, Q61627, Q62640, Q62803, Q63880, Q6AW46, Q6NT32, Q6P1J6, Q6Q4G3, Q7SZI7, Q8C129

Diamond homologs: O54728, O70320, Q05017, Q06HQ7, Q3TTY0, Q6P1J6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	223
Likely benign	31
Benign	21

Top pathogenic / likely-pathogenic (0)

SpliceAI

9890 predictions. Top by Δscore:

Variant	Effect	Δscore
2:28516806:A:AG	acceptor_gain	1.0000
2:28516807:G:GG	acceptor_gain	1.0000
2:28529406:GA:G	donor_gain	1.0000
2:28529408:G:GG	donor_gain	1.0000
2:28550083:AGG:A	donor_loss	1.0000
2:28550085:G:GA	donor_loss	1.0000
2:28550086:T:A	donor_loss	1.0000
2:28553048:G:GG	donor_gain	1.0000
2:28563037:TTAGT:T	acceptor_loss	1.0000
2:28563039:AGTTC:A	acceptor_loss	1.0000
2:28563098:CGGTA:C	donor_loss	1.0000
2:28563099:GGTA:G	donor_loss	1.0000
2:28563100:G:GA	donor_loss	1.0000
2:28563101:T:A	donor_loss	1.0000
2:28565974:G:GT	donor_gain	1.0000
2:28566780:T:A	acceptor_gain	1.0000
2:28566781:G:A	acceptor_gain	1.0000
2:28566788:C:G	acceptor_gain	1.0000
2:28566836:GCGA:G	donor_gain	1.0000
2:28566838:GA:G	donor_gain	1.0000
2:28566840:G:GG	donor_gain	1.0000
2:28573301:GCTGA:G	donor_gain	1.0000
2:28573302:C:G	donor_gain	1.0000
2:28573306:G:GG	donor_gain	1.0000
2:28579625:A:AG	acceptor_gain	1.0000
2:28579625:AGAG:A	acceptor_gain	1.0000
2:28579626:G:GG	acceptor_gain	1.0000
2:28579626:GA:G	acceptor_gain	1.0000
2:28579626:GAGG:G	acceptor_gain	1.0000
2:28582400:CTCA:C	acceptor_loss	1.0000

AlphaMissense

9623 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:28565349:T:A	W426R	0.996
2:28565349:T:C	W426R	0.996
2:28589759:T:A	W669R	0.994
2:28589759:T:C	W669R	0.994
2:28633028:T:A	W1363R	0.994
2:28633028:T:C	W1363R	0.994
2:28589717:C:G	H655D	0.993
2:28579688:G:A	C516Y	0.992
2:28579687:T:A	C516S	0.991
2:28579688:G:C	C516S	0.991
2:28585768:T:C	C581R	0.991
2:28585768:T:A	C581S	0.990
2:28585769:G:C	C581S	0.990
2:28605937:T:A	W1016R	0.990
2:28605937:T:C	W1016R	0.990
2:28626449:T:A	W1201R	0.990
2:28626449:T:C	W1201R	0.990
2:28543257:T:A	W309R	0.989
2:28543257:T:C	W309R	0.989
2:28543259:G:C	W309C	0.989
2:28543259:G:T	W309C	0.989
2:28579648:T:A	W503R	0.989
2:28579648:T:C	W503R	0.989
2:28620331:A:C	S1128R	0.989
2:28620600:C:A	S1128R	0.989
2:28620600:C:G	S1128R	0.989
2:28626451:G:C	W1201C	0.989
2:28626451:G:T	W1201C	0.989
2:28565351:G:C	W426C	0.988
2:28565351:G:T	W426C	0.988

dbSNP variants (sampled 300 via entrez): RS1000002857 (2:28586524 C>G), RS1000008645 (2:28643154 A>G), RS1000024147 (2:28588134 A>G), RS1000049857 (2:28572668 A>G), RS1000065831 (2:28592281 C>T), RS1000067486 (2:28601304 G>A), RS1000080335 (2:28643350 C>G,T), RS1000084804 (2:28576036 G>A), RS1000099009 (2:28536616 G>A), RS1000116631 (2:28519160 A>G), RS1000121195 (2:28561820 C>A,T), RS1000189380 (2:28617657 T>C), RS1000193909 (2:28525406 C>A,G), RS1000194019 (2:28607949 C>T), RS1000224022 (2:28500601 C>A)

Disease associations

OMIM: gene MIM:610179 | 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

23 associations (top):

Study	Trait	p-value
GCST004600_70	Eosinophil percentage of white cells	6.000000e-11
GCST004606_54	Eosinophil count	2.000000e-10
GCST004617_63	Eosinophil percentage of granulocytes	6.000000e-11
GCST004623_156	Neutrophil percentage of granulocytes	3.000000e-10
GCST004624_61	Sum eosinophil basophil counts	7.000000e-09
GCST005576_18	Intracranial aneurysm	2.000000e-06
GCST006090_2	Excessive sweating	8.000000e-06
GCST006979_915	Heel bone mineral density	1.000000e-12
GCST007656_7	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	9.000000e-12
GCST008074_115	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-13
GCST008074_86	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	3.000000e-06
GCST008083_1	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	6.000000e-13
GCST008083_130	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-06
GCST008087_132	Triglyceride levels in current drinkers	3.000000e-09
GCST010916_5	Proportion of activated microglia (inferior temporal cortex)	3.000000e-06
GCST010984_7	Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)	3.000000e-13
GCST010985_12	Allergic disease (asthma, hay fever and/or eczema) (age of onset)	3.000000e-13
GCST012013_7	Cataracts	5.000000e-10
GCST012490_43	Femur bone mineral density x serum urate levels interaction	1.000000e-11
GCST012490_573	Femur bone mineral density x serum urate levels interaction	4.000000e-11
GCST90002381_24	Eosinophil count	2.000000e-24
GCST90002382_35	Eosinophil percentage of white cells	7.000000e-24
GCST90014268_8	Cataracts	1.000000e-19

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0009270	heel bone mineral density
EFO:0004530	triglyceride measurement
EFO:0004329	alcohol drinking
EFO:0004847	age at onset
EFO:0004531	urate measurement

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

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
mipafox	decreases activity	1
triphenyl phosphate	affects expression	1
potassium perchlorate	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	increases methylation	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	increases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	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