OR6B2

Summary

OR6B2 (olfactory receptor family 6 subfamily B member 2, HGNC:15041) is a protein-coding gene on chromosome 2q37.3, encoding Olfactory receptor 6B2 (Q6IFH4). 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 389090 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001005853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15041
Approved symbol	OR6B2
Name	olfactory receptor family 6 subfamily B member 2
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182083
Ensembl biotype	protein_coding
Entrez	389090

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000319423

RefSeq mRNA: 1 — MANE Select: NM_001005853 NM_001005853

CCDS: CCDS46559

Canonical transcript exons

ENST00000319423 — 1 exons

Exon	Start	End
ENSE00004001348	240029491	240030429

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 69.06.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibial nerve	UBERON:0001323	69.06	gold quality
cortical plate	UBERON:0005343	40.36	gold quality
sural nerve	UBERON:0015488	38.42	gold quality
bone marrow cell	CL:0002092	38.28	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.75	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.81	gold quality
muscle tissue	UBERON:0002385	33.27	gold quality
bone marrow	UBERON:0002371	32.83	gold quality
right testis	UBERON:0004534	31.69	silver quality
testis	UBERON:0000473	31.50	silver quality
gall bladder	UBERON:0002110	31.29	silver quality
left testis	UBERON:0004533	31.20	silver quality
prefrontal cortex	UBERON:0000451	30.19	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.45	gold quality
tonsil	UBERON:0002372	28.77	gold quality
duodenum	UBERON:0002114	28.14	gold quality
left coronary artery	UBERON:0001626	27.94	gold quality
islet of Langerhans	UBERON:0000006	27.72	gold quality
smooth muscle tissue	UBERON:0001135	27.67	gold quality
placenta	UBERON:0001987	27.63	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	26.91	gold quality
blood	UBERON:0000178	26.67	gold quality
leukocyte	CL:0000738	26.65	gold quality
monocyte	CL:0000576	26.56	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6b3	ENSMUSG00000042849
mus_musculus	Or6b2b	ENSMUSG00000057464
mus_musculus	Or6b2	ENSMUSG00000067064
rattus_norvegicus	Or6b3	ENSRNOG00000086068
rattus_norvegicus	Or6b2b	ENSRNOG00000090099

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), OR5B3 (ENSG00000172769), 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)

Protein

Protein identifiers

Olfactory receptor 6B2 — Q6IFH4 (reviewed: Q6IFH4)

Alternative names: Olfactory receptor OR2-1

All UniProt accessions (1): Q6IFH4

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_001005853* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IFH4-F1	85.26	0.46

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: 22 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, RAO_BOUND_BY_SALL4_ISOFORM_A, chr2q37

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), 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 (3): cytosol (GO:0005829), 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
cellular anatomical structure	2
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
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
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6B2	MRGPRG	Q86SM5	396
OR6B2	RTP2	Q5QGT7	367
OR6B2	RTP1	P59025	324
OR6B2	SPEM1	Q8N4L4	321
OR6B2	NRSN1	Q8IZ57	303
OR6B2	TRIM58	Q8NG06	278
OR6B2	OMP	P47874	268
OR6B2	ADCY3	O60266	266
OR6B2	TCEAL9	Q9UHQ7	252
OR6B2	GPSM1	Q86YR5	250
OR6B2	TDRD6	O60522	247
OR6B2	REEP1	Q9H902	227
OR6B2	CGB5	P01233	222
OR6B2	P84086	P84086	218
OR6B2	CETN3	O15182	207

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, A6NF89, A6NND4, O43749, O60412, O76099, O76100, O95007, O95222, O95918, P0C7N1, P0C7N5, P0DN81, P23265, P23266, P23267, P23268, P23269, P23270, P23272, P23273, P30953, P34984, P34986, P47881, P47890, P58173, Q0VAX9, Q15619, Q15622, Q5JQS5, Q5TZ20, Q60879, Q60882, Q60886, Q6IFH4, Q7TRF3, Q8NG83, Q8NG98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

138 predictions. Top by Δscore:

Variant	Effect	Δscore
2:240030313:C:CT	acceptor_gain	0.5700
2:240029539:AAATT:A	donor_gain	0.5300
2:240029981:A:AC	donor_gain	0.4700
2:240029982:C:CC	donor_gain	0.4700
2:240029869:CAGCT:C	acceptor_gain	0.4600
2:240029873:T:C	acceptor_gain	0.4000
2:240030223:C:CT	acceptor_gain	0.4000
2:240029888:ATGTC:A	acceptor_gain	0.3900
2:240029652:CATA:C	donor_loss	0.3800
2:240029653:ATAC:A	donor_loss	0.3800
2:240029654:TACAT:T	donor_loss	0.3800
2:240029655:A:AC	donor_gain	0.3800
2:240029655:ACATG:A	donor_loss	0.3800
2:240029656:C:A	donor_loss	0.3800
2:240029656:C:CC	donor_gain	0.3800
2:240029873:T:TC	acceptor_gain	0.3800
2:240030109:C:CT	acceptor_gain	0.3800
2:240029534:T:TA	donor_gain	0.3700
2:240029650:GACAT:G	donor_loss	0.3700
2:240029651:ACAT:A	donor_loss	0.3700
2:240029934:CG:C	acceptor_gain	0.3700
2:240029516:AAGG:A	donor_gain	0.3600
2:240030064:G:C	donor_gain	0.3600
2:240029579:ATTGG:A	donor_gain	0.3500
2:240030222:C:G	acceptor_gain	0.3500
2:240029682:CGG:C	donor_gain	0.3400
2:240030118:G:GA	acceptor_gain	0.3300
2:240030119:A:AA	acceptor_gain	0.3300
2:240030120:A:AA	acceptor_gain	0.3300
2:240029835:C:CT	donor_gain	0.3200

AlphaMissense

2166 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:240046037:G:C	F12L	0.924
2:240046037:G:T	F12L	0.924
2:240046039:A:G	F12L	0.924
2:240045569:G:C	F168L	0.920
2:240045569:G:T	F168L	0.920
2:240045571:A:G	F168L	0.920
2:240045620:A:C	S151R	0.912
2:240045620:A:T	S151R	0.912
2:240045622:T:G	S151R	0.912
2:240045537:C:G	C179S	0.878
2:240045538:A:T	C179S	0.878
2:240045539:G:C	F178L	0.877
2:240045539:G:T	F178L	0.877
2:240045541:A:G	F178L	0.877
2:240045542:G:C	F177L	0.873
2:240045542:G:T	F177L	0.873
2:240045544:A:G	F177L	0.873
2:240045320:G:C	F251L	0.863
2:240045320:G:T	F251L	0.863
2:240045322:A:G	F251L	0.863
2:240046038:A:C	F12C	0.848
2:240045758:G:C	S105R	0.842
2:240045758:G:T	S105R	0.842
2:240045760:T:G	S105R	0.842
2:240045761:G:C	F104L	0.837
2:240045761:G:T	F104L	0.837
2:240045763:A:G	F104L	0.837
2:240045476:A:C	D199E	0.835
2:240045476:A:T	D199E	0.835
2:240045864:T:A	E70V	0.834

dbSNP variants (sampled 300 via entrez): RS1002000858 (2:240031408 G>A), RS1002572492 (2:240031241 G>A,T), RS1002709830 (2:240031597 T>C), RS1003307445 (2:240030665 T>A,C), RS1003419350 (2:240029331 C>A,T), RS1004527165 (2:240031445 A>G), RS1005502128 (2:240030705 T>C), RS1006526024 (2:240031825 T>C), RS1006976829 (2:240030909 G>A,C), RS1007927722 (2:240031765 C>G,T), RS1008866777 (2:240031197 G>A), RS1009351741 (2:240030966 G>A), RS1010629032 (2:240031222 A>G), RS1010709035 (2:240032152 T>C), RS1010900176 (2:240031370 T>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

2 associations (top):

Study	Trait	p-value
GCST002105_1	Odorant perception (isobutyraldehyde)	6.000000e-10
GCST004574_4	Skin aging (microtopography measurement)	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
bisphenol S	decreases methylation	1
Fulvestrant	increases methylation, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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