OR2B3

Summary

OR2B3 (olfactory receptor family 2 subfamily B member 3, HGNC:8238) is a protein-coding gene on chromosome 6p22.1, encoding Putative olfactory receptor 2B3 (O76000). 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 442184 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_001005226

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8238
Approved symbol	OR2B3
Name	olfactory receptor family 2 subfamily B member 3
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	OR6-4
Ensembl gene	ENSG00000204703
Ensembl biotype	protein_coding
Entrez	442184

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377173

RefSeq mRNA: 1 — MANE Select: NM_001005226 NM_001005226

CCDS: CCDS34358

Canonical transcript exons

ENST00000377173 — 1 exons

Exon	Start	End
ENSE00001617449	29086208	29087313

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 80.73.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.73	silver quality
mucosa of transverse colon	UBERON:0004991	39.20	silver 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
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
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.61	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.93	gold quality
adrenal tissue	UBERON:0018303	27.78	gold quality
lymph node	UBERON:0000029	27.57	gold quality
calcaneal tendon	UBERON:0003701	27.41	gold quality
superior frontal gyrus	UBERON:0002661	27.22	gold quality
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	26.63	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
monocyte	CL:0000576	26.53	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.09	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Putative olfactory receptor 2B3 — O76000 (reviewed: O76000)

Alternative names: Hs6M1-1, Olfactory receptor OR6-14

All UniProt accessions (2): O76000, A0A126GV76

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_001005226* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76000-F1	85.90	0.45

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): 97–189

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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, 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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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 smell	1
detection of chemical stimulus involved in sensory perception	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
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2B3	SLC35F4	A4IF30	665
OR2B3	TMEM196	Q5HYL7	641
OR2B3	TSR3	Q9UJK0	583
OR2B3	KLHL25	Q9H0H3	580
OR2B3	ZNF311	Q5JNZ3	580
OR2B3	STARD3NL	O95772	540
OR2B3	ANAPC13	Q9BS18	507
OR2B3	CDC42SE2	Q9NRR3	507
OR2B3	BUD13	Q9BRD0	477
OR2B3	TRIM10	Q9UDY6	435
OR2B3	RTP1	P59025	417
OR2B3	GALR1	P47211	399
OR2B3	TRIM40	Q6P9F5	393
OR2B3	MUCL3	Q3MIW9	370
OR2B3	TAS2R60	P59551	333

IntAct

0 interactions, top by confidence:

BioGRID (2): CFL1 (Cross-Linking-MS (XL-MS)), OR2B3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O76000, O95007, O95221, P0C626, P0C629, P30955, P37070, P70526, Q15617, Q15620, Q60882, Q60893, Q60895, Q6IEU7, Q8N0Y5, Q8N162, Q8NGE1, Q8NGG4, Q8NGG8, Q8NGH3, Q8NGL1, Q8NGP8, Q8NGP9, Q8NGR5, Q8NGR8, Q8NGS4, Q8NGT1, Q8NGX3, Q8NH01, Q8VEW5, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

263 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29086492:C:CT	acceptor_gain	0.6400
6:29086618:C:CC	acceptor_gain	0.6300
6:29086658:AG:A	donor_gain	0.6300
6:29087257:A:AC	donor_gain	0.6100
6:29087258:C:CC	donor_gain	0.6100
6:29087193:T:C	donor_gain	0.5300
6:29086376:GCTGT:G	acceptor_gain	0.5100
6:29086414:CA:C	acceptor_gain	0.5100
6:29086446:T:C	acceptor_gain	0.5100
6:29086731:T:TA	donor_gain	0.5100
6:29086483:TGG:T	acceptor_gain	0.5000
6:29086493:A:C	acceptor_gain	0.5000
6:29086659:G:C	donor_gain	0.5000
6:29087262:T:C	donor_gain	0.5000
6:29086617:A:AC	acceptor_gain	0.4800
6:29086492:C:T	acceptor_gain	0.4500
6:29086594:CA:C	acceptor_gain	0.4500
6:29087261:A:AC	donor_gain	0.4500
6:29086613:TGTCA:T	acceptor_gain	0.4400
6:29086616:CA:C	acceptor_gain	0.4400
6:29086415:A:C	acceptor_gain	0.4300
6:29086456:A:C	acceptor_gain	0.4300
6:29086481:AATGG:A	acceptor_gain	0.4300
6:29086575:A:AC	donor_gain	0.4300
6:29086576:C:CC	donor_gain	0.4300
6:29086576:CTG:C	donor_gain	0.4300
6:29086707:AC:A	donor_gain	0.4300
6:29086708:CC:C	donor_gain	0.4300
6:29087055:T:TC	acceptor_gain	0.4300
6:29086316:A:AC	donor_gain	0.4200

AlphaMissense

2067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29087213:A:C	F12L	0.900
6:29087213:A:T	F12L	0.900
6:29087215:A:G	F12L	0.900
6:29086496:A:C	F251L	0.791
6:29086496:A:T	F251L	0.791
6:29086498:A:G	F251L	0.791
6:29087198:G:C	F17L	0.790
6:29087198:G:T	F17L	0.790
6:29087200:A:G	F17L	0.790
6:29086937:G:C	F104L	0.753
6:29086937:G:T	F104L	0.753
6:29086939:A:G	F104L	0.753
6:29087066:G:C	F61L	0.718
6:29087066:G:T	F61L	0.718
6:29087068:A:G	F61L	0.718
6:29086535:A:C	F238L	0.688
6:29086535:A:T	F238L	0.688
6:29086537:A:G	F238L	0.688
6:29087063:A:C	F62L	0.687
6:29087063:A:T	F62L	0.687
6:29087065:A:G	F62L	0.687
6:29086718:A:C	F177L	0.684
6:29086718:A:T	F177L	0.684
6:29086720:A:G	F177L	0.684
6:29086418:G:C	F277L	0.678
6:29086418:G:T	F277L	0.678
6:29086420:A:G	F277L	0.678
6:29086376:G:C	S291R	0.676
6:29086376:G:T	S291R	0.676
6:29086378:T:G	S291R	0.676

dbSNP variants (sampled 300 via entrez): RS1001484535 (6:29088050 A>T), RS1001808171 (6:29089122 G>A), RS1002082419 (6:29086580 T>G), RS1002516844 (6:29087052 A>G), RS1003991701 (6:29085703 T>C), RS1004068255 (6:29086115 T>C), RS1005877263 (6:29086407 A>G,T), RS1006148822 (6:29086527 C>T), RS1007550713 (6:29088094 T>C), RS1007562035 (6:29088400 T>C), RS1009728927 (6:29088322 G>C,T), RS1012130591 (6:29085736 A>G), RS1013838472 (6:29087328 G>A), RS1013858773 (6:29087549 T>G), RS1014805981 (6:29088615 T>A)

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

24 associations (top):

Study	Trait	p-value
GCST002194_1	Social communication problems	3.000000e-07
GCST003518_59	Daytime sleep phenotypes	3.000000e-06
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_212	Autism spectrum disorder or schizophrenia	5.000000e-14
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_7	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST004521_84	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_91	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST004866_25	Alopecia areata	9.000000e-07
GCST005541_6	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	7.000000e-19
GCST006575_11	Takayasu arteritis	1.000000e-06
GCST008916_89	Asthma	2.000000e-10
GCST008921_4	Asthma and major depressive disorder	2.000000e-11
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment
EFO:0007828	daytime rest measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

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
Cadmium	decreases expression, increases abundance	1
Sodium Dodecyl Sulfate	affects response to substance	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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