OR51B2

Summary

OR51B2 (olfactory receptor family 51 subfamily B member 2, HGNC:14703) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51B2 (Q9Y5P1). Odorant 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 79345 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_033180

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14703
Approved symbol	OR51B2
Name	olfactory receptor family 51 subfamily B member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279012
Ensembl biotype	protein_coding
OMIM	621187
Entrez	79345

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624187

RefSeq mRNA: 1 — MANE Select: NM_033180 NM_033180

Canonical transcript exons

ENST00000624187 — 1 exons

Exon	Start	End
ENSE00003756581	5323359	5324297

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 80.80.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	80.80	silver quality
pancreatic ductal cell	CL:0002079	79.08	silver quality
ileal mucosa	UBERON:0000331	77.34	gold quality
mucosa of paranasal sinus	UBERON:0005030	66.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	65.29	gold quality
upper arm skin	UBERON:0004263	63.90	gold quality
deltoid	UBERON:0001476	63.68	silver quality
left ventricle myocardium	UBERON:0006566	62.89	gold quality
secondary oocyte	CL:0000655	62.48	gold quality
nasal cavity epithelium	UBERON:0005384	57.19	gold quality
upper leg skin	UBERON:0004262	57.02	gold quality
parietal pleura	UBERON:0002400	56.31	gold quality
myocardium	UBERON:0002349	55.84	gold quality
visceral pleura	UBERON:0002401	55.73	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
skin of hip	UBERON:0001554	52.94	silver quality
quadriceps femoris	UBERON:0001377	52.22	gold quality
endothelial cell	CL:0000115	51.25	gold quality
vastus lateralis	UBERON:0001379	49.23	gold quality
tibia	UBERON:0000979	49.00	gold quality
layer of synovial tissue	UBERON:0007616	45.36	gold quality
lateral globus pallidus	UBERON:0002476	44.84	gold quality
oocyte	CL:0000023	44.22	gold quality
substantia nigra pars reticulata	UBERON:0001966	43.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
gingival epithelium	UBERON:0001949	42.59	gold quality
subthalamic nucleus	UBERON:0001906	41.72	gold quality
germinal epithelium of ovary	UBERON:0001304	41.68	gold quality
ventral tegmental area	UBERON:0002691	41.43	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• From musk to body odor: Decoding olfaction through genetic variation. (PMID:35113854)

Cross-species orthologs

0 orthologs

Paralogs (51): OR51E2 (ENSG00000167332), 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)

Protein

Protein identifiers

Olfactory receptor 51B2 — Q9Y5P1 (reviewed: Q9Y5P1)

Alternative names: Odorant receptor HOR5’beta3, Olfactory receptor 51B1

All UniProt accessions (2): Q9Y5P1, A0A126GWB2

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Post-translational modifications. Ubiquitinated by the CRL2(FEM1A) and CRL2(FEM1C) complexes, which recognize the -Lys-Xaa-Xaa-Arg C-degron at the C-terminus, leading to its degradation.

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

RefSeq proteins (1): NP_149420* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6LBG	X-RAY DIFFRACTION	2.51

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5P1-F1	89.03	0.59

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): 95–187

Glycosylation sites (1): 4

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 43 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, ZFHX3_TARGET_GENES, GSE10273_LOW_IL7_VS_HIGH_IL7_AND_IRF4_IN_IRF4_8_NULL_PRE_BCELL_UP

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
response to lipid	1
cellular response to chemical stimulus	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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	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
cellular anatomical structure	1

Protein interactions and networks

STRING

270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51B2	ACCSL	Q4AC99	418
OR51B2	RHO	P08100	409
OR51B2	TAAR5	O14804	356
OR51B2	TMCC2	O75069	353
OR51B2	TRIM68	Q6AZZ1	305
OR51B2	MRGPRX3	Q96LB0	294
OR51B2	SYNE1	Q8NF91	279
OR51B2	DCLK3	Q9C098	275
OR51B2	LRRN3	Q9H3W5	270
OR51B2	HBE1	P02100	266
OR51B2	ANGPTL7	O43827	247
OR51B2	SFMBT1	Q9UHJ3	244
OR51B2	OR7D4	Q8NG98	237
OR51B2	BCL11A	Q9H165	236
OR51B2	TRIM34	Q9BYJ4	229

IntAct

0 interactions, top by confidence:

BioGRID (2): OR51B2 (Reconstituted Complex), OR51B2 (Co-crystal Structure)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

220 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5324059:A:AC	donor_gain	0.8500
11:5323802:A:C	acceptor_gain	0.7900
11:5323798:CAATA:C	acceptor_gain	0.7700
11:5323541:C:CC	acceptor_gain	0.7500
11:5324041:T:C	donor_gain	0.7500
11:5324079:CAATG:C	donor_gain	0.7100
11:5324083:G:GC	donor_gain	0.7100
11:5323795:T:C	acceptor_gain	0.7000
11:5323536:CATCA:C	acceptor_gain	0.6900
11:5323540:A:AC	acceptor_gain	0.6900
11:5324100:G:A	donor_gain	0.6800
11:5324104:G:A	donor_gain	0.6700
11:5324123:A:AC	donor_gain	0.6500
11:5324033:C:CA	donor_gain	0.6400
11:5323795:T:TC	acceptor_gain	0.6300
11:5324000:AAG:A	donor_gain	0.6300
11:5324029:ATCTC:A	donor_gain	0.6300
11:5324062:A:AC	donor_gain	0.6300
11:5324063:C:CC	donor_gain	0.6300
11:5324064:A:C	donor_gain	0.6300
11:5323539:CA:C	acceptor_gain	0.6200
11:5323445:T:TC	acceptor_gain	0.6100
11:5324021:CA:C	donor_gain	0.6100
11:5324056:CCCA:C	donor_gain	0.5900
11:5323517:T:TC	acceptor_gain	0.5800
11:5324239:G:GA	donor_gain	0.5800
11:5324292:C:CT	donor_gain	0.5700
11:5323443:C:CT	acceptor_gain	0.5600
11:5323516:C:CT	acceptor_gain	0.5600
11:5323802:A:AC	acceptor_gain	0.5600

AlphaMissense

2060 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5323770:G:C	F176L	0.884
11:5323770:G:T	F176L	0.884
11:5323772:A:G	F176L	0.884
11:5324268:A:C	F10L	0.790
11:5324268:A:T	F10L	0.790
11:5324270:A:G	F10L	0.790
11:5323512:A:C	F262L	0.753
11:5323512:A:T	F262L	0.753
11:5323514:A:G	F262L	0.753
11:5324253:A:C	F15L	0.747
11:5324253:A:T	F15L	0.747
11:5324255:A:G	F15L	0.747
11:5323806:A:C	F164L	0.735
11:5323806:A:T	F164L	0.735
11:5323808:A:G	F164L	0.735
11:5323551:G:C	F249L	0.722
11:5323551:G:T	F249L	0.722
11:5323553:A:G	F249L	0.722
11:5323935:G:C	F121L	0.716
11:5323935:G:T	F121L	0.716
11:5323937:A:G	F121L	0.716
11:5324010:G:C	F96L	0.695
11:5324010:G:T	F96L	0.695
11:5324012:A:G	F96L	0.695
11:5323722:G:C	F192L	0.650
11:5323722:G:T	F192L	0.650
11:5323724:A:G	F192L	0.650
11:5324048:A:G	W84R	0.650
11:5324048:A:T	W84R	0.650
11:5324118:G:C	F60L	0.592

dbSNP variants (sampled 300 via entrez): RS1000534761 (11:5323073 T>C), RS1001980163 (11:5324380 G>A,T), RS1002411111 (11:5326243 C>T), RS1002765399 (11:5325942 G>A,C), RS1003826216 (11:5324952 G>A,T), RS1003867583 (11:5325639 T>C), RS1003878615 (11:5325272 T>C), RS1003914972 (11:5324995 G>A), RS1003918374 (11:5325845 A>C,G,T), RS1003944691 (11:5325232 G>C), RS1004876480 (11:5324383 G>A), RS1005860744 (11:5322968 G>A), RS1005931048 (11:5323319 C>T), RS1007988164 (11:5324480 C>T), RS1010682204 (11:5325326 C>T)

Disease associations

OMIM: gene MIM:621187 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST007006_9	Logical memory (delayed recall) in normal cognition	1.000000e-07
GCST007060_4	Response to SSRI (symptom remission)	4.000000e-07
GCST007061_10	Response to antidepressants (symptom remission)	2.000000e-07
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0005658	response to selective serotonin reuptake inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Zoledronic Acid	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Diethylhexyl Phthalate	decreases expression	1
Hydrogen Peroxide	decreases expression	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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