OR5B3

Summary

OR5B3 (olfactory receptor family 5 subfamily B member 3, HGNC:8324) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5B3 (Q8NH48). 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 441608 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001005469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8324
Approved symbol	OR5B3
Name	olfactory receptor family 5 subfamily B member 3
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	OST129
Ensembl gene	ENSG00000172769
Ensembl biotype	protein_coding
Entrez	441608

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641865

RefSeq mRNA: 1 — MANE Select: NM_001005469 NM_001005469

CCDS: CCDS31549

Canonical transcript exons

ENST00000641865 — 2 exons

Exon	Start	End
ENSE00003811758	58406801	58406874
ENSE00003814058	58402464	58403435

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 40.57.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	40.57	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
mucosa of stomach	UBERON:0001199	33.94	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.41	gold quality
urinary bladder	UBERON:0001255	29.07	gold quality
liver	UBERON:0002107	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.66	silver quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.50	gold quality
tonsil	UBERON:0002372	27.05	gold quality
monocyte	CL:0000576	26.72	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
uterine cervix	UBERON:0000002	26.45	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	25.98	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.87	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

Cross-species orthologs

28 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5b107	ENSMUSG00000045883
mus_musculus	Or5b113	ENSMUSG00000049015
mus_musculus	Or5b106	ENSMUSG00000057503
mus_musculus	Or5b96	ENSMUSG00000057817
mus_musculus	Or5b97	ENSMUSG00000060303
mus_musculus	Or5b104	ENSMUSG00000061637
mus_musculus	Or5b111	ENSMUSG00000062199
mus_musculus	Or5b105	ENSMUSG00000062844
mus_musculus	Or5b3	ENSMUSG00000063777
mus_musculus	Or5b108	ENSMUSG00000094721
mus_musculus	Or5b101	ENSMUSG00000094755
mus_musculus	Or5b102	ENSMUSG00000094986
mus_musculus	Or5b109	ENSMUSG00000096365
mus_musculus	Or5b112	ENSMUSG00000096485
mus_musculus	Or5b110	ENSMUSG00000109100
mus_musculus	Or5b100	ENSMUSG00000109148
rattus_norvegicus	Or5b104	ENSRNOG00000057094
rattus_norvegicus	Or5b96	ENSRNOG00000069344
rattus_norvegicus	Or5b114	ENSRNOG00000070448
rattus_norvegicus	Or5b100	ENSRNOG00000074590
rattus_norvegicus	Or5b107	ENSRNOG00000075926
rattus_norvegicus	Or5b106	ENSRNOG00000076443
rattus_norvegicus	Or5b105	ENSRNOG00000077716
rattus_norvegicus	Or5b109	ENSRNOG00000077996
rattus_norvegicus		ENSRNOG00000078941
rattus_norvegicus	Or5b102	ENSRNOG00000086611
rattus_norvegicus	Or5b3	ENSRNOG00000086755
rattus_norvegicus	Or5b113	ENSRNOG00000088170

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5B3 — Q8NH48 (reviewed: Q8NH48)

Alternative names: Olfactory receptor 5B13, Olfactory receptor OR11-239

All UniProt accessions (2): Q8NH48, A0A126GVH3

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_001005469* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (28 total): topological domain 8, sequence variant 8, transmembrane region 7, glycosylation site 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH48-F1	86.39	0.53

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 (3): 3, 17, 153

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 23 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, ZWANG_DOWN_BY_2ND_EGF_PULSE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, BPTF_TARGET_GENES

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), 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), odorant binding (GO:0005549)

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
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to 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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5B3	TINAG	Q9UJW2	432
OR5B3	HTR4	Q13639	432
OR5B3	RCBTB1	Q8NDN9	419
OR5B3	JHY	Q6NUN7	305
OR5B3	SCN3B	Q9NY72	270
OR5B3	IL4I1	Q96RQ9	269
OR5B3	CREB5	Q02930	258
OR5B3	ITGA11	Q9UKX5	254
OR5B3	PTAFR	P25105	229
OR5B3	BRDT	Q58F21	223
OR5B3	ADORA1	P30542	215
OR5B3	DDO	Q99489	203
OR5B3	ANAPC16	Q96DE5	203
OR5B3	KCNA1	Q09470	201
OR5B3	BACH2	Q9BYV9	195

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR5B3	SMC1A	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): OR5B3 (Proximity Label-MS)

ESM2 similar proteins: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NM76, P37067, P37069, P37070, P37071, P58181, Q13606, Q60884, Q60886, Q60895, Q8N127, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG4, Q8NGL1, Q8NGL3, Q8NGS4, Q8NGS5, Q8NGS9, Q8NGT0, Q8NH48, Q8NH51, Q8NH92, Q8NH93, Q8VEW5, Q8VEW6, Q8VF12, Q8VF66, Q8VFD0, Q8VFD1, Q8VFD3, Q8VFK2

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

167 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58402674:C:CC	acceptor_gain	0.7400
11:58402909:A:AC	donor_gain	0.7300
11:58402910:C:CC	donor_gain	0.7300
11:58402671:CGA:C	acceptor_gain	0.7100
11:58403390:A:AC	donor_gain	0.7000
11:58403391:C:CC	donor_gain	0.7000
11:58403391:CTT:C	donor_gain	0.7000
11:58402670:CCGA:C	acceptor_gain	0.6600
11:58402671:CGAC:C	acceptor_gain	0.6600
11:58403393:T:TA	donor_gain	0.6300
11:58402669:GCCGA:G	acceptor_gain	0.6200
11:58402670:CCGAC:C	acceptor_gain	0.6200
11:58402672:GA:G	acceptor_gain	0.5700
11:58403143:G:T	donor_gain	0.5600
11:58403141:A:AC	donor_gain	0.5400
11:58402672:GACT:G	acceptor_loss	0.5300
11:58402674:C:CA	acceptor_loss	0.5300
11:58402675:T:A	acceptor_loss	0.5300
11:58402676:G:C	acceptor_loss	0.5000
11:58402876:A:AC	donor_gain	0.5000
11:58402910:CA:C	donor_gain	0.4900
11:58403366:AGT:A	donor_gain	0.4900
11:58402677:CAA:C	acceptor_gain	0.4800
11:58402679:A:AC	acceptor_gain	0.4800
11:58402904:GACTT:G	donor_loss	0.4800
11:58402905:ACTT:A	donor_loss	0.4800
11:58402906:CTTAC:C	donor_loss	0.4800
11:58402907:TTA:T	donor_loss	0.4800
11:58402908:TAC:T	donor_loss	0.4800
11:58402909:A:AG	donor_loss	0.4800

AlphaMissense

2079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58403380:G:C	F10L	0.862
11:58403380:G:T	F10L	0.862
11:58403382:A:G	F10L	0.862
11:58402912:G:C	F166L	0.826
11:58402912:G:T	F166L	0.826
11:58402914:A:G	F166L	0.826
11:58402924:A:C	F162L	0.821
11:58402924:A:T	F162L	0.821
11:58402926:A:G	F162L	0.821
11:58402885:A:C	F175L	0.792
11:58402885:A:T	F175L	0.792
11:58402887:A:G	F175L	0.792
11:58402882:G:C	F176L	0.756
11:58402882:G:T	F176L	0.756
11:58402884:A:G	F176L	0.756
11:58402804:G:C	S202R	0.722
11:58402804:G:T	S202R	0.722
11:58402806:T:G	S202R	0.722
11:58403116:T:A	Q98H	0.639
11:58403116:T:G	Q98H	0.639
11:58403104:A:C	F102L	0.636
11:58403104:A:T	F102L	0.636
11:58403106:A:G	F102L	0.636
11:58403381:A:G	F10S	0.636
11:58402585:G:C	F275L	0.634
11:58402585:G:T	F275L	0.634
11:58402587:A:G	F275L	0.634
11:58403323:G:C	F29L	0.621
11:58403323:G:T	F29L	0.621
11:58403325:A:G	F29L	0.621

dbSNP variants (sampled 300 via entrez): RS1000714478 (11:58402353 C>G), RS1000836763 (11:58407577 C>G,T), RS1001282710 (11:58404223 C>T), RS1002049278 (11:58407151 A>C,G), RS1002163535 (11:58404937 C>A,G,T), RS1002591502 (11:58407785 T>C), RS1003725336 (11:58406031 G>A), RS1003822430 (11:58402184 C>A,G), RS1004036043 (11:58406763 A>G), RS1004066196 (11:58406472 T>G), RS1005165693 (11:58407472 G>A), RS1005445957 (11:58406259 T>A,G), RS1005705864 (11:58405785 T>C), RS1006714773 (11:58405267 T>C), RS1006825643 (11:58405391 T>A,C)

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

4 associations (top):

Study	Trait	p-value
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09
GCST008362_124	Birth weight	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0004344	birth weight

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
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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