OR51E2

Summary

OR51E2 (olfactory receptor family 51 subfamily E member 2, HGNC:15195) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51E2 (Q9H255). Olfactory receptor.

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome.

Source: NCBI Gene 81285 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 68 total
• Druggable target: yes — 5 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_030774

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15195
Approved symbol	OR51E2
Name	olfactory receptor family 51 subfamily E member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	PSGR
Ensembl gene	ENSG00000167332
Ensembl biotype	protein_coding
OMIM	611268
Entrez	81285

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000396950, ENST00000532598, ENST00000641638

RefSeq mRNA: 1 — MANE Select: NM_030774 NM_030774

CCDS: CCDS7751

Canonical transcript exons

ENST00000396950 — 2 exons

Exon	Start	End
ENSE00001112144	4697653	4697853
ENSE00001563120	4680171	4682761

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 90.63.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4340 / max 209.2636, expressed in 86 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118332	0.2043	64
118335	0.1965	25
118333	0.0332	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	90.63	gold quality
popliteal artery	UBERON:0002250	81.02	gold quality
tibial artery	UBERON:0007610	80.98	gold quality
prostate gland	UBERON:0002367	79.14	gold quality
muscle layer of sigmoid colon	UBERON:0035805	75.90	gold quality
right coronary artery	UBERON:0001625	69.30	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.15	gold quality
colon	UBERON:0001155	66.59	gold quality
smooth muscle tissue	UBERON:0001135	66.48	gold quality
transverse colon	UBERON:0001157	66.38	gold quality
large intestine	UBERON:0000059	66.29	gold quality
rectum	UBERON:0001052	66.06	gold quality
left coronary artery	UBERON:0001626	65.55	gold quality
coronary artery	UBERON:0001621	64.47	gold quality
colonic epithelium	UBERON:0000397	62.85	gold quality
placenta	UBERON:0001987	62.50	gold quality
intestine	UBERON:0000160	61.52	gold quality
body of uterus	UBERON:0009853	60.76	gold quality
aorta	UBERON:0000947	60.69	gold quality
myometrium	UBERON:0001296	60.68	gold quality
vermiform appendix	UBERON:0001154	60.15	gold quality
endothelial cell	CL:0000115	59.64	gold quality
vena cava	UBERON:0004087	59.18	gold quality
caecum	UBERON:0001153	57.36	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.94	gold quality
tibialis anterior	UBERON:0001385	56.89	silver quality
diaphragm	UBERON:0001103	56.87	gold quality
superficial temporal artery	UBERON:0001614	56.86	gold quality
myocardium	UBERON:0002349	56.38	gold quality
epithelial cell of pancreas	CL:0000083	56.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.25
E-MTAB-6379	no	1.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting OR51E2, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-7845-5P	99.88	64.88	771
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-579-3P	99.86	71.66	3628

Literature-anchored findings (GeneRIF, showing 16)

• Increased expression of prostate-specific G-protein-coupled receptor is associated with prostate intraepithelial neoplasia and prostate cancers (PMID:15499628)
• two functional promoters regulate the transcriptional expression of PSGR in human prostate tissues, and PSGR is a new target for IL-6 transcriptional regulation (PMID:16149059)
• PSGR overexpression is associated with higher percentage of pathologic stage, pT3, and a higher level of preoperative serum PSA in Prostate Cancer (PMID:16231015)
• expression of PSGR and PSGR2 relative to AMACR in prostate cancer; AMACR was the most overexpressed, but in some cases expression of AMACR was not significantly elevated while PSGR and/or PSGR2 were substantially elevated (PMID:16491480)
• We identified androstenone derivatives as ligands for the recombinant receptor PSGR (PMID:19389702)
• Pyk2-NDRG1 axis is possibly involved in conveying the anti-proliferative effect of beta-ionone in prostate cancer cells. (PMID:25219547)
• PSGR overexpression synergizes with loss of PTEN to accelerate prostate cancer development, and present a novel bigenic mouse model that mimics the human condition (PMID:26028029)
• Plasma membrane preparations showed that OR51E2 protein is present at the melanocyte cell surface. (PMID:27226631)
• Strikingly, OR51E2 was the most highly enriched OR transcript mapped to the human olfactome in lung-resident cells. In a heterologous expression system, OR51E2 trafficked readily to the cell surface and showed ligand selectivity and sensitivity to the short chain fatty acids (SCFAs) acetate and propionate. (PMID:27905542)
• OR51E2 is involved in the regulation of cell proliferation and migration in human primary melanoma and melanoma metastasis (PMID:28191688)
• Two genes, OR51E2 and SIM2, and two miRNAs, miR-200c and miR-200b, showed significant association with prostate cancer. (PMID:28910345)
• Olfactory receptor OR51E2, also known as a Prostate Specific G-Protein Receptor, is highly expressed in prostate cancer. We identified 24 agonists and 1 antagonist for this receptor. We detected that agonist 19-hydroxyandrostenedione, a product of the aromatase reaction, is endogenously produced upon receptor activation and contributes to neuroendocrine transdifferentiation of prostate cancer LNCaP cells. (PMID:29892571)
• Coexpression of peripheral olfactory receptors with SARSCoV2 infection mediators: Potential implications beyond loss of smell as a COVID19 symptom. (PMID:32705281)
• Exosome carrying PSGR promotes stemness and epithelial-mesenchymal transition of low aggressive prostate cancer cells. (PMID:33164833)
• Ectopically expressed olfactory receptors OR51E1 and OR51E2 suppress proliferation and promote cell death in a prostate cancer cell line. (PMID:33640452)
• Structural basis of odorant recognition by a human odorant receptor. (PMID:36922591)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51e2	ENSMUSG00000043366
rattus_norvegicus	Olr59	ENSRNOG00000018606

Paralogs (51): OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51E2 — Q9H255 (reviewed: Q9H255)

Alternative names: HPRAJ, Olfactory receptor OR11-16, Prostate-specific G-protein coupled receptor

All UniProt accessions (3): A0A126GVK0, E9PPJ8, Q9H255

UniProt curated annotations — full annotation on UniProt →

Function. Olfactory receptor. Activated by the odorant, beta-ionone, a synthetic terpenoid. The activity of this receptor is probably mediated by G-proteins leading to the elevation of intracellular Ca(2+), cAMP and activation of the protein kinases PKA and MAPK3/MAPK1. Stimulation of OR51E2 by beta-ionone affects melanocyte proliferation, differentiation, and melanogenesis. Activation of OR51E2 by beta-ionone increases proliferation and migration of primary retinal pigment epithelial (RPE) cells. Activated also by the short-chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure. May also be activated by steroid hormones and regulate cell proliferation. Activated by L-lactate in glomus cells.

Subcellular location. Cell membrane. Early endosome membrane.

Tissue specificity. Highly expressed in the prostate. Also expressed in spleen, liver, olfactory epithelium, retinal pigment epithelium and medulla oblongata. In the retinal pigment epithelium expression is restricted to the pigment cells and choroid (at protein level). Expressed in epidermal melanocytes (at protein level).

Induction. Up-regulated in prostate cancer.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_110401* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (35 total): helix 13, topological domain 8, transmembrane region 7, strand 3, chain 1, glycosylation site 1, disulfide bond 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8F76	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H255-F1	88.97	0.61

Antibody-complex structures (SAbDab): 1 — 8F76

Functional residue map

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

Disulfide bonds (1): 96–178

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 130 (showing top): GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_CELL_SIGNALING, GOBP_PIGMENTATION, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_REGULATION_OF_ENDOCRINE_PROCESS

GO Biological Process (15): adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), cell migration (GO:0016477), melanocyte differentiation (GO:0030318), steroid hormone receptor signaling pathway (GO:0043401), positive regulation of blood pressure (GO:0045777), cellular response to fatty acid (GO:0071398), melanocyte proliferation (GO:0097325), positive regulation of renin secretion into blood stream (GO:1900135), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), nuclear receptor-mediated steroid hormone signaling pathway (GO:0030518), detection of chemical stimulus involved in sensory perception of smell (GO:0050911), cellular response to lipid (GO:0071396)

GO Molecular Function (4): nuclear steroid receptor activity (GO:0003707), G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

GO Cellular Component (5): plasma membrane (GO:0005886), early endosome membrane (GO:0031901), intracellular organelle (GO:0043229), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
cell motility	1
pigment cell differentiation	1
hormone-mediated signaling pathway	1
cellular response to steroid hormone stimulus	1
regulation of blood pressure	1
response to fatty acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
epithelial cell proliferation	1
renin secretion into blood stream	1
positive regulation of protein secretion	1
regulation of renin secretion into blood stream	1
multicellular organismal process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
steroid hormone receptor signaling pathway	1
nuclear receptor-mediated signaling pathway	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
response to lipid	1
cellular response to chemical stimulus	1
nuclear receptor activity	1
nuclear receptor-mediated steroid hormone signaling pathway	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
molecular transducer activity	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

418 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51E2	AMACR	Q9UHK6	905
OR51E2	CNGA2	Q16280	560
OR51E2	ADCY3	O60266	560
OR51E2	GNAL	P38405	528
OR51E2	GPR137	Q96N19	399
OR51E2	RTP2	Q5QGT7	383
OR51E2	FFAR3	O14843	376
OR51E2	SLC45A3	Q96JT2	373
OR51E2	HCAR2	Q8TDS4	364
OR51E2	GPR160	Q9UJ42	361
OR51E2	KLK3	P07288	355
OR51E2	OGG1	P78554	353
OR51E2	RTP1	P59025	349
OR51E2	A0A140T9Z0	A0A140T9Z0	349
OR51E2	FOLH1	Q04609	348

IntAct

3 interactions, top by confidence:

A	B	Type	Score
OR51E2	DUSP14	psi-mi:“MI:0914”(association)	0.530

BioGRID (24): HEPHL1 (Affinity Capture-MS), CALML3 (Affinity Capture-MS), S100A3 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), VSIG8 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), PROCR (Affinity Capture-MS), VSIG8 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), S100A3 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), FAM26D (Affinity Capture-MS)

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

252 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4697651:A:AC	donor_gain	1.0000
11:4697652:C:CC	donor_gain	1.0000
11:4697652:CAGAG:C	donor_gain	1.0000
11:4697650:TACA:T	donor_loss	0.9900
11:4697651:ACAG:A	donor_loss	0.9900
11:4697652:C:CG	donor_loss	0.9900
11:4697652:CA:C	donor_gain	0.9900
11:4697652:CAG:C	donor_gain	0.9900
11:4697652:CAGA:C	donor_gain	0.9900
11:4682762:C:CC	acceptor_gain	0.9800
11:4697647:A:AC	donor_gain	0.9800
11:4697648:C:CC	donor_gain	0.9800
11:4682758:CAGT:C	acceptor_gain	0.9700
11:4697645:TTACT:T	donor_loss	0.9200
11:4697646:TACTT:T	donor_loss	0.9200
11:4682760:GT:G	acceptor_gain	0.9100
11:4682759:AGT:A	acceptor_gain	0.9000
11:4697640:CAGTT:C	donor_gain	0.9000
11:4697648:CTTA:C	donor_gain	0.9000
11:4682760:GTCTG:G	acceptor_loss	0.8900
11:4682761:TC:T	acceptor_loss	0.8900
11:4682762:CTGCA:C	acceptor_loss	0.8900
11:4682763:T:G	acceptor_loss	0.8900
11:4682764:G:C	acceptor_loss	0.8800
11:4682772:A:T	acceptor_loss	0.8800
11:4697757:ATT:A	donor_gain	0.8500
11:4682055:C:CT	acceptor_gain	0.8300
11:4697679:T:TA	donor_gain	0.8200
11:4683485:T:C	donor_gain	0.8000
11:4691453:G:C	donor_gain	0.8000

AlphaMissense

2084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4681962:G:C	F250L	0.971
11:4681962:G:T	F250L	0.971
11:4681964:A:G	F250L	0.971
11:4681819:A:G	I298T	0.959
11:4682350:C:G	R121P	0.954
11:4682409:G:C	F101L	0.952
11:4682409:G:T	F101L	0.952
11:4682411:A:G	F101L	0.952
11:4681858:A:T	V285D	0.949
11:4682086:T:A	D209V	0.949
11:4682087:C:G	D209H	0.945
11:4681851:A:C	N287K	0.944
11:4681851:A:T	N287K	0.944
11:4682086:T:G	D209A	0.944
11:4682338:A:T	I125N	0.940
11:4682053:A:T	I220K	0.939
11:4682679:A:C	F11L	0.939
11:4682679:A:T	F11L	0.939
11:4682681:A:G	F11L	0.939
11:4682361:C:A	M117I	0.937
11:4682361:C:G	M117I	0.937
11:4682361:C:T	M117I	0.937
11:4682589:G:C	N41K	0.936
11:4682589:G:T	N41K	0.936
11:4682211:G:C	F167L	0.930
11:4682211:G:T	F167L	0.930
11:4682213:A:G	F167L	0.930
11:4682272:G:T	A147D	0.930
11:4682338:A:C	I125S	0.930
11:4682506:T:G	D69A	0.929

dbSNP variants (sampled 300 via entrez): RS1000253529 (11:4694152 C>T), RS1000355227 (11:4688707 A>C,G), RS1000537923 (11:4690408 G>A), RS1000677770 (11:4693749 G>A), RS1000739172 (11:4687524 T>C), RS1000753420 (11:4681552 T>C), RS1000817834 (11:4699346 A>G), RS1000939360 (11:4694016 T>C), RS1000979056 (11:4682773 T>C), RS1001240428 (11:4688615 T>A,C), RS1001265516 (11:4695548 A>T), RS1001344073 (11:4689680 A>G), RS1001472976 (11:4698070 G>A), RS1001527543 (11:4683807 A>G), RS1001870696 (11:4684065 C>G)

Disease associations

OMIM: gene MIM:611268 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST90026416_9	Mild age-related type 2 diabetes	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523454 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

5 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 2,632,323 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL193482	ESTRIOL	4	21,295
CHEMBL547	ISOTRETINOIN	4	31,016
CHEMBL773	GLYCINE	4	1,220,071
CHEMBL985	UREA	4	1,354,157
CHEMBL406291	BRADYKININ	2	5,784

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

ChEMBL bioactivities

19 potent at pChembl≥5 of 23 total, top 19 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.46	EC50	0.035	nM	HISTIDINOL
9.82	EC50	0.15	nM	CHEMBL4517318
9.64	EC50	0.23	nM	ACETYLGLUTAMIC ACID
9.38	EC50	0.42	nM	PELARGONIDIN CHLORIDE
9.16	EC50	0.69	nM	EPITESTOSTERONE
9.10	EC50	0.79	nM	CHEMBL1230438
8.89	EC50	1.3	nM	BRADYKININ
8.72	EC50	1.9	nM	CHEMBL4556656
8.72	EC50	1.9	nM	2-PYRROLIDONE
8.26	EC50	5.5	nM	ALPHA-KETOGLUTARIC ACID
8.19	EC50	6.4	nM	CHEMBL4566376
8.01	EC50	9.8	nM	PALMITIC ACID
7.64	EC50	23	nM	UREA
7.58	EC50	26	nM	CHEMBL4574750
7.24	EC50	58	nM	GLYCINE
6.80	IC50	160	nM	ISOTRETINOIN
6.38	EC50	420	nM	CHEMBL1230192
6.24	EC50	570	nM	TETRAHYDROCURCUMIN
6.00	EC50	1000	nM	CHEMBL4590792

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-ionone	affects binding, increases activity	1
alpha-ionone	decreases activity	1
butyraldehyde	decreases expression	1
CGP 52608	increases reaction, affects binding	1
clothianidin	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Taurine	decreases expression	1
Asbestos, Crocidolite	affects expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

98 unique, capped per target: 94 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4482521	Functional	Agonist activity at PSGR/OR51E2 (unknown origin) expressed in human Hana3A cells co-transfected with CRE-Luc by luciferase reporter gene assay	Modulators of Prostate-Specific G-Protein Receptor (PSGR/OR51E2) and Methods of Using Same
CHEMBL4482525	Binding	Agonist activity at PSGR/OR51E2 in human LNCaP cells assessed as induction of neuroendocrine trans-differentiation related gene expression by measuring increase in OR51E2 mRNA expression incubated for 12 days by RT-PCR analysis	Modulators of Prostate-Specific G-Protein Receptor (PSGR/OR51E2) and Methods of Using Same

Clinical trials (associated diseases)

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