OR51B5

Summary

OR51B5 (olfactory receptor family 51 subfamily B member 5, HGNC:19599) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51B5 (Q9H339). 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.

Source: NCBI Gene 282763 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 389 total
• MANE Select transcript: NM_001395252

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19599
Approved symbol	OR51B5
Name	olfactory receptor family 51 subfamily B member 5
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167355
Ensembl biotype	protein_coding
Entrez	282763

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 1 protein_coding, 1 non_stop_decay

ENST00000300773, ENST00000415970, ENST00000418729, ENST00000420465, ENST00000420726

RefSeq mRNA: 2 — MANE Select: NM_001395252 NM_001005567, NM_001395252

CCDS: CCDS31378

Canonical transcript exons

ENST00000300773 — 1 exons

Exon	Start	End
ENSE00001112240	5342586	5343524

Expression profiles

Bgee: expression breadth ubiquitous, 112 present calls, max score 86.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.6619 / max 142.3234, expressed in 105 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118372	2.6619	105

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.68	gold quality
secondary oocyte	CL:0000655	72.14	silver quality
mucosa of paranasal sinus	UBERON:0005030	60.76	gold quality
skin of hip	UBERON:0001554	54.90	silver quality
right ovary	UBERON:0002118	53.89	gold quality
right uterine tube	UBERON:0001302	53.76	gold quality
epithelium of nasopharynx	UBERON:0001951	53.16	gold quality
colonic epithelium	UBERON:0000397	52.90	gold quality
calcaneal tendon	UBERON:0003701	52.75	silver quality
left ovary	UBERON:0002119	51.36	gold quality
stromal cell of endometrium	CL:0002255	51.05	silver quality
bone marrow cell	CL:0002092	50.14	gold quality
ovary	UBERON:0000992	49.54	gold quality
tendon	UBERON:0000043	48.54	silver quality
uterine cervix	UBERON:0000002	47.87	silver quality
right adrenal gland cortex	UBERON:0035827	47.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	46.62	gold quality
right lobe of liver	UBERON:0001114	46.23	gold quality
cardia of stomach	UBERON:0001162	46.11	gold quality
superficial temporal artery	UBERON:0001614	46.05	gold quality
tibial nerve	UBERON:0001323	45.99	gold quality
body of uterus	UBERON:0009853	45.45	gold quality
ectocervix	UBERON:0012249	45.36	gold quality
right adrenal gland	UBERON:0001233	45.24	gold quality
endocervix	UBERON:0000458	45.02	gold quality
liver	UBERON:0002107	44.13	silver quality
female reproductive system	UBERON:0000474	43.87	gold quality
right lobe of thyroid gland	UBERON:0001119	43.68	gold quality
nasal cavity mucosa	UBERON:0001826	43.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.74

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• OR51B5 and ISO play important roles in HaCaT and keratinocyte migration, thereby influencing wound healing. (PMID:27315375)
• Dermal Olfactory Receptor OR51B5 Is Essential for Survival and Collagen Synthesis in Human Dermal Fibroblast (Hs68 Cells). (PMID:34502185)
• Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development of Scirrhous-type Gastric Cancer. (PMID:36288877)

Cross-species orthologs

0 orthologs

Paralogs (51): OR51E2 (ENSG00000167332), 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 51B5 — Q9H339 (reviewed: Q9H339)

Alternative names: Odorant receptor HOR5’beta5, Olfactory receptor OR11-37

All UniProt accessions (2): A0A2R8Y7B5, Q9H339

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

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

RefSeq proteins (2): NP_001005567, NP_001382181* (*=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 (24 total): topological domain 8, transmembrane region 7, sequence variant 7, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H339-F1	89.75	0.68

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

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: 0 (showing top):

GO Biological Process (6): sensory perception of smell (GO:0007608), cellular response to lipid (GO:0071396), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), 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-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
sensory perception of chemical stimulus	1
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 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

362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51B5	HBG1	P02096	532
OR51B5	MIPEP	Q99797	486
OR51B5	A0A0J9YYA3	A0A0J9YYA3	478
OR51B5	HBS1L	Q9Y450	430
OR51B5	BCL11A	Q9H165	419
OR51B5	HBE1	P02100	381
OR51B5	GARIN2	Q8N9W8	377
OR51B5	HBB	P02023	362
OR51B5	ZNF525	Q8N782	348
OR51B5	WDR38	Q5JTN6	339
OR51B5	HAO2	Q9NYQ3	338
OR51B5	CT45A3	P0DMU6	334
OR51B5	MRGPRG	Q86SM5	314
OR51B5	CT45A10	P0DMU9	307
OR51B5	CT45A5	P0DMU8	299

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR51B5	DUSP29	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): DUPD1 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	360
Likely benign	25
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4117 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5304304:A:AC	donor_gain	0.9800
11:5304305:C:CC	donor_gain	0.9800
11:5304305:CTGTT:C	donor_gain	0.9800
11:5304533:T:TA	donor_gain	0.9800
11:5341243:A:AC	donor_gain	0.9800
11:5341244:C:CC	donor_gain	0.9800
11:5341260:G:C	donor_gain	0.9800
11:5341300:C:CT	donor_gain	0.9800
11:5341301:T:TT	donor_gain	0.9800
11:5343466:T:TA	donor_gain	0.9800
11:5428269:T:TC	acceptor_gain	0.9800
11:5491204:A:AC	donor_gain	0.9800
11:5491229:A:AC	donor_gain	0.9800
11:5304315:G:A	donor_gain	0.9700
11:5341298:TGC:T	donor_gain	0.9700
11:5431445:T:TA	donor_gain	0.9700
11:5505567:A:AC	donor_gain	0.9700
11:5505568:C:CC	donor_gain	0.9700
11:5325332:A:T	acceptor_gain	0.9400
11:5304329:G:A	donor_gain	0.9300
11:5325339:G:C	acceptor_gain	0.9300
11:5434649:A:C	acceptor_gain	0.9300
11:5443033:ACTTC:A	acceptor_gain	0.9300
11:5489996:G:GC	acceptor_gain	0.9300
11:5505568:CAGTT:C	donor_gain	0.9300
11:5343260:C:CA	donor_gain	0.9200
11:5443032:AACTT:A	acceptor_gain	0.9200
11:5491233:CA:C	donor_gain	0.9200
11:5330943:C:CT	donor_gain	0.9100
11:5441023:C:CT	acceptor_gain	0.9100

AlphaMissense

2041 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5342997:G:C	F176L	0.896
11:5342997:G:T	F176L	0.896
11:5342999:A:G	F176L	0.896
11:5343495:G:C	F10L	0.817
11:5343495:G:T	F10L	0.817
11:5343497:A:G	F10L	0.817
11:5343162:A:C	F121L	0.789
11:5343162:A:T	F121L	0.789
11:5343164:A:G	F121L	0.789
11:5342778:A:C	F249L	0.786
11:5342778:A:T	F249L	0.786
11:5342780:A:G	F249L	0.786
11:5343237:A:C	F96L	0.785
11:5343237:A:T	F96L	0.785
11:5343239:A:G	F96L	0.785
11:5343480:A:C	F15L	0.785
11:5343480:A:T	F15L	0.785
11:5343482:A:G	F15L	0.785
11:5342949:G:C	F192L	0.713
11:5342949:G:T	F192L	0.713
11:5342951:A:G	F192L	0.713
11:5342739:A:C	F262L	0.710
11:5342739:A:T	F262L	0.710
11:5342741:A:G	F262L	0.710
11:5343345:A:C	F60L	0.665
11:5343345:A:T	F60L	0.665
11:5343347:A:G	F60L	0.665
11:5343177:C:A	M116I	0.653
11:5343177:C:G	M116I	0.653
11:5343177:C:T	M116I	0.653

dbSNP variants (sampled 300 via entrez): RS1000010015 (11:5365163 T>C), RS1000021362 (11:5359759 G>A), RS1000026548 (11:5359901 C>G), RS1000034489 (11:5434892 C>A), RS1000047262 (11:5382549 A>G), RS1000062382 (11:5450727 T>C), RS1000066384 (11:5416671 T>C), RS1000097340 (11:5478071 C>A,T), RS1000098238 (11:5484530 A>G,T), RS1000098583 (11:5416917 GA>G,GAA), RS1000125786 (11:5424279 C>G,T), RS1000134876 (11:5440654 G>A), RS1000177155 (11:5368992 T>C), RS1000188910 (11:5404582 T>G), RS1000207165 (11:5401949 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary amenorrhea (MONDO:1060208)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000545_2	Fetal hemoglobin levels	3.000000e-08
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 (3, from GWAS)

EFO ID	Trait name
EFO:0004576	fetal hemoglobin measurement
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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
phenethyl isothiocyanate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Diethylhexyl Phthalate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07164248	Not specified	COMPLETED	Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice