OR51B6

Summary

OR51B6 (olfactory receptor family 51 subfamily B member 6, HGNC:19600) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51B6 (Q9H340). 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 390058 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001004750

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19600
Approved symbol	OR51B6
Name	olfactory receptor family 51 subfamily B member 6
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176239
Ensembl biotype	protein_coding
Entrez	390058

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380219

RefSeq mRNA: 1 — MANE Select: NM_001004750 NM_001004750

CCDS: CCDS31379

Canonical transcript exons

ENST00000380219 — 1 exons

Exon	Start	End
ENSE00001484131	5351508	5352446

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 76.95.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	76.95	silver quality
ileal mucosa	UBERON:0000331	70.53	silver quality
deltoid	UBERON:0001476	60.90	gold quality
epithelial cell of pancreas	CL:0000083	56.71	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
upper leg skin	UBERON:0004262	50.79	silver quality
myocardium	UBERON:0002349	50.25	gold quality
sural nerve	UBERON:0015488	49.70	silver quality
skin of hip	UBERON:0001554	49.27	silver quality
quadriceps femoris	UBERON:0001377	48.17	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
lower lobe of lung	UBERON:0008949	46.46	silver quality
vastus lateralis	UBERON:0001379	45.40	gold quality
stromal cell of endometrium	CL:0002255	44.12	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
skeletal muscle tissue	UBERON:0001134	42.86	gold quality
muscle tissue	UBERON:0002385	42.63	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
cartilage tissue	UBERON:0002418	40.77	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51b6b	ENSMUSG00000099687
mus_musculus	Or51b6	ENSMUSG00000110259
rattus_norvegicus	Or51b6b	ENSRNOG00000033350
rattus_norvegicus	Or51b6	ENSRNOG00000072932

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), 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 51B6 — Q9H340 (reviewed: Q9H340)

Alternative names: Odorant receptor HOR5’beta6

All UniProt accessions (1): Q9H340

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 (1): NP_001004750* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (32 total): sequence variant 13, topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H340-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

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: 27 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, 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, GSE11924_TFH_VS_TH2_CD4_TCELL_DN

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-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
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

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51B6	HBB	P02023	573
OR51B6	HBD	P02042	556
OR51B6	MIPEP	Q99797	454
OR51B6	HBG1	P02096	450
OR51B6	A0A0J9YYA3	A0A0J9YYA3	447
OR51B6	KRTAP1-4	P0C5Y4	442
OR51B6	TAAR5	O14804	400
OR51B6	HBE1	P02100	383
OR51B6	OTOL1	A6NHN0	370
OR51B6	BCL11A	Q9H165	370
OR51B6	SYNE1	Q8NF91	353
OR51B6	HBS1L	Q9Y450	349
OR51B6	RASL10B	Q96S79	346
OR51B6	DIRAS1	O95057	331
OR51B6	TAS2R31	P59538	325
OR51B6	PCDHGA1	Q9Y5H4	325

IntAct

0 interactions, top by confidence:

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

332 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5352156:ATTTT:A	acceptor_gain	0.8100
11:5351652:A:T	donor_gain	0.8000
11:5352157:T:G	acceptor_gain	0.7900
11:5352169:A:G	acceptor_gain	0.7800
11:5351651:G:GT	donor_gain	0.7600
11:5352156:A:AG	acceptor_gain	0.7600
11:5352160:T:A	acceptor_gain	0.7400
11:5352155:C:G	acceptor_gain	0.7200
11:5351624:C:T	donor_gain	0.6800
11:5352044:C:G	acceptor_gain	0.6800
11:5351569:C:T	donor_gain	0.6300
11:5351579:GA:G	donor_gain	0.6200
11:5351580:A:G	donor_gain	0.6200
11:5351745:C:G	donor_gain	0.6200
11:5351518:A:AG	donor_gain	0.6100
11:5352043:A:AG	acceptor_gain	0.6100
11:5351802:GCC:G	donor_gain	0.6000
11:5352168:A:AG	acceptor_gain	0.6000
11:5351564:G:GT	donor_gain	0.5900
11:5351979:GTT:G	acceptor_gain	0.5800
11:5352154:A:AG	acceptor_gain	0.5700
11:5352170:G:GG	acceptor_gain	0.5700
11:5352438:A:AG	acceptor_gain	0.5700
11:5352439:G:GG	acceptor_gain	0.5700
11:5351692:C:G	donor_gain	0.5600
11:5351917:CCCAG:C	donor_loss	0.5600
11:5351918:CCAGG:C	donor_loss	0.5600
11:5351919:CAGG:C	donor_loss	0.5600
11:5351920:AG:A	donor_loss	0.5600
11:5351921:GGTAA:G	donor_loss	0.5600

AlphaMissense

2062 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5352033:T:C	F176L	0.850
11:5352035:C:A	F176L	0.850
11:5352035:C:G	F176L	0.850
11:5351535:T:C	F10L	0.762
11:5351537:C:A	F10L	0.762
11:5351537:C:G	F10L	0.762
11:5352252:T:C	F249L	0.708
11:5352254:C:A	F249L	0.708
11:5352254:C:G	F249L	0.708
11:5351550:T:C	F15L	0.705
11:5351552:C:A	F15L	0.705
11:5351552:C:G	F15L	0.705
11:5352291:T:C	F262L	0.681
11:5352293:T:A	F262L	0.681
11:5352293:T:G	F262L	0.681
11:5351793:T:C	F96L	0.674
11:5351795:C:A	F96L	0.674
11:5351795:C:G	F96L	0.674
11:5351997:T:C	F164L	0.656
11:5351999:T:A	F164L	0.656
11:5351999:T:G	F164L	0.656
11:5351868:T:C	F121L	0.638
11:5351870:C:A	F121L	0.638
11:5351870:C:G	F121L	0.638
11:5352081:T:C	F192L	0.616
11:5352083:C:A	F192L	0.616
11:5352083:C:G	F192L	0.616

dbSNP variants (sampled 300 via entrez): RS1000957365 (11:5350775 G>C), RS1001630819 (11:5352759 CACACATACATAT>C), RS1001631269 (11:5351031 G>A), RS1002683126 (11:5350427 A>G), RS1004183604 (11:5350008 G>C), RS1005859956 (11:5350228 C>A,T), RS1006528737 (11:5352240 T>G), RS1008480857 (11:5350710 A>T), RS1010453569 (11:5350672 T>C,G), RS1011039302 (11:5349652 A>T), RS1011838414 (11:5352580 A>G), RS1013920372 (11:5352741 CACAT>C,CACATACAT), RS1014286645 (11:5351055 C>G), RS1014753822 (11:5350031 T>A), RS1017875741 (11:5352767 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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