OR2B2

Summary

OR2B2 (olfactory receptor family 2 subfamily B member 2, HGNC:13966) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2B2 (Q9GZK3). 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 81697 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_033057

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13966
Approved symbol	OR2B2
Name	olfactory receptor family 2 subfamily B member 2
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-10, OR6-1, OR2B2Q
Ensembl gene	ENSG00000168131
Ensembl biotype	protein_coding
Entrez	81697

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000303324

RefSeq mRNA: 1 — MANE Select: NM_033057 NM_033057

CCDS: CCDS4641

Canonical transcript exons

ENST00000303324 — 1 exons

Exon	Start	End
ENSE00001172800	27911185	27912396

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 56.90.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	56.90	silver quality
tibialis anterior	UBERON:0001385	53.12	silver quality
ileal mucosa	UBERON:0000331	52.84	silver quality
deltoid	UBERON:0001476	50.85	silver quality
epithelial cell of pancreas	CL:0000083	50.66	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
quadriceps femoris	UBERON:0001377	49.03	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
oviduct epithelium	UBERON:0004804	48.46	gold quality
vastus lateralis	UBERON:0001379	48.25	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
metanephric glomerulus	UBERON:0004736	47.45	gold quality
thymus	UBERON:0002370	47.42	gold quality
kidney epithelium	UBERON:0004819	47.39	gold quality
nephron tubule	UBERON:0001231	47.30	gold quality
diaphragm	UBERON:0001103	47.05	gold quality
gluteal muscle	UBERON:0002000	47.03	gold quality
triceps brachii	UBERON:0001509	47.01	gold quality
layer of synovial tissue	UBERON:0007616	45.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Or2b2	ENSRNOG00000084603

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), 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), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2B2 — Q9GZK3 (reviewed: Q9GZK3)

Alternative names: Hs6M1-10, Olfactory receptor 2B9, Olfactory receptor 6-1

All UniProt accessions (2): A0A126GWD0, Q9GZK3

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_149046* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZK3-F1	79.53	0.32

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: 33 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, HMGA1_TARGET_GENES, GSE11864_CSF1_IFNG_VS_CSF1_IFNG_PAM3CYS_IN_MAC_DN, GSE13484_3H_UNSTIM_VS_YF17D_VACCINE_STIM_PBMC_DN

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

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2B2	FAM47E	Q6ZV65	449
OR2B2	BPIFB3	P59826	419
OR2B2	NALF1	B1AL88	398
OR2B2	LACTB2	Q53H82	391
OR2B2	H2AC14	Q99878	369
OR2B2	MTSS2	Q765P7	358
OR2B2	MAGEB10	Q96LZ2	325
OR2B2	TSPAN14	Q8NG11	321
OR2B2	TSPOAP1	O95153	311
OR2B2	H2BC17	P23527	290
OR2B2	ZCWPW1	Q9H0M4	263
OR2B2	MAS1L	P35410	260
OR2B2	H2AC13	P02261	248
OR2B2	BTN2A1	P78408	247
OR2B2	GPR160	Q9UJ42	246

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6ND48, A6NFC9, B2RN74, O43869, O60412, O60431, P23265, P31388, P34987, P47883, P47884, P47887, P58170, Q0VAX9, Q5JRS4, Q60894, Q6IFN5, Q7Z3T1, Q8NG78, Q8NG84, Q8NG94, Q8NG99, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGN1, Q8NGN2, Q8NGR1, Q8NGR2, Q8NGR6, Q8NGT2, Q8NGW1, Q8NGW6, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

194 predictions. Top by Δscore:

Variant	Effect	Δscore
6:27911563:C:CT	acceptor_gain	0.9100
6:27911668:A:AC	donor_gain	0.7800
6:27911669:C:CC	donor_gain	0.7800
6:27912381:T:TA	donor_gain	0.7800
6:27911554:TAG:T	acceptor_gain	0.7600
6:27911557:C:CC	acceptor_gain	0.7600
6:27911564:A:T	acceptor_gain	0.7200
6:27911564:A:C	acceptor_gain	0.7000
6:27911554:TAGC:T	acceptor_loss	0.6900
6:27911556:GCTG:G	acceptor_loss	0.6900
6:27911557:CT:C	acceptor_loss	0.6900
6:27911558:T:A	acceptor_loss	0.6800
6:27911685:G:GC	donor_gain	0.6700
6:27911711:A:AC	donor_gain	0.6700
6:27911712:C:CC	donor_gain	0.6700
6:27911729:AG:A	donor_gain	0.6600
6:27911552:GATAG:G	acceptor_gain	0.6500
6:27911555:AG:A	acceptor_gain	0.6500
6:27911706:A:AC	donor_gain	0.6300
6:27912306:T:C	donor_gain	0.6200
6:27911564:A:AC	acceptor_gain	0.6100
6:27911645:CA:C	acceptor_gain	0.5900
6:27911553:ATAG:A	acceptor_gain	0.5800
6:27911730:G:GA	donor_gain	0.5700
6:27911562:CCA:C	acceptor_gain	0.5500
6:27911559:G:C	acceptor_gain	0.5400
6:27911670:G:C	donor_gain	0.5400
6:27911710:CA:C	donor_gain	0.5300
6:27911558:TG:T	donor_gain	0.5100
6:27911647:C:CC	acceptor_gain	0.5100

AlphaMissense

2363 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:27911951:A:C	F123L	0.825
6:27911951:A:T	F123L	0.825
6:27911953:A:G	F123L	0.825
6:27912284:G:C	F12L	0.807
6:27912284:G:T	F12L	0.807
6:27912286:A:G	F12L	0.807
6:27911965:A:G	C119R	0.792
6:27911875:A:G	W149R	0.780
6:27911875:A:T	W149R	0.780
6:27911567:A:C	F251L	0.775
6:27911567:A:T	F251L	0.775
6:27911569:A:G	F251L	0.775
6:27911963:G:C	C119W	0.745
6:27912134:A:C	F62L	0.739
6:27912134:A:T	F62L	0.739
6:27912136:A:G	F62L	0.739
6:27912137:A:C	F61L	0.734
6:27912137:A:T	F61L	0.734
6:27912139:A:G	F61L	0.734
6:27911966:C:A	M118I	0.721
6:27911966:C:G	M118I	0.721
6:27911966:C:T	M118I	0.721
6:27912008:G:C	F104L	0.714
6:27912008:G:T	F104L	0.714
6:27912010:A:G	F104L	0.714
6:27912092:A:C	S76R	0.700
6:27912092:A:T	S76R	0.700
6:27912094:T:G	S76R	0.700
6:27911867:A:C	S151R	0.688
6:27911867:A:T	S151R	0.688

dbSNP variants (sampled 300 via entrez): RS1001369490 (6:27914379 G>A,T), RS1002218474 (6:27911571 A>C), RS1003041414 (6:27913111 CA>C,CAA), RS1005575547 (6:27913218 A>G), RS1005788505 (6:27914263 G>T), RS1007054017 (6:27913764 G>C), RS1007274936 (6:27913567 T>C), RS1008946772 (6:27911891 CT>C), RS1012261943 (6:27913464 C>A,T), RS1012977147 (6:27913039 G>A,T), RS1014498479 (6:27911247 C>G,T), RS1014681277 (6:27912545 C>A,T), RS1015456141 (6:27914284 A>G), RS1015541723 (6:27912795 A>G), RS1016127076 (6:27913833 TA>T,TAA)

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

28 associations (top):

Study	Trait	p-value
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_115	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_166	Autism spectrum disorder or schizophrenia	4.000000e-24
GCST004521_22	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_23	Autism spectrum disorder or schizophrenia	2.000000e-11
GCST004521_6	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST004748_90	Lung cancer	2.000000e-10
GCST004749_72	Lung cancer in ever smokers	1.000000e-08
GCST004750_88	Squamous cell lung carcinoma	2.000000e-10
GCST008163_49	Height	5.000000e-06
GCST008746_10	Estimated glomerular filtration rate in diabetes	1.000000e-08
GCST008921_6	Asthma and major depressive disorder	1.000000e-09
GCST010002_50	Refractive error	4.000000e-34
GCST010083_110	Hemoglobin levels	1.000000e-44
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
GCST011766_12	Chronic obstructive pulmonary disease	6.000000e-11
GCST012214_6	Alzheimer’s disease	2.000000e-08
GCST90016674_19	Liver iron content	1.000000e-20
GCST90020028_833	Hip circumference adjusted for BMI	2.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Asbestos, Crocidolite	affects expression, increases methylation	2
sodium arsenite	increases expression	1
Acetaminophen	increases expression	1
Amiodarone	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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