OR6B1

Summary

OR6B1 (olfactory receptor family 6 subfamily B member 1, HGNC:8354) is a protein-coding gene on chromosome 7q35, encoding Olfactory receptor 6B1 (O95007). 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 135946 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001005281

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8354
Approved symbol	OR6B1
Name	olfactory receptor family 6 subfamily B member 1
Location	7q35
Locus type	gene with protein product
Status	Approved
Aliases	OR7-3
Ensembl gene	ENSG00000221813
Ensembl biotype	protein_coding
Entrez	135946

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000408922, ENST00000641698

RefSeq mRNA: 1 — MANE Select: NM_001005281 NM_001005281

CCDS: CCDS43667

Canonical transcript exons

ENST00000641698 — 2 exons

Exon	Start	End
ENSE00003812752	144000320	144000650
ENSE00003813327	144003972	144008793

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 46.26.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	46.26	gold quality
sural nerve	UBERON:0015488	44.51	gold quality
bone marrow cell	CL:0002092	42.00	gold quality
placenta	UBERON:0001987	40.64	silver quality
ventricular zone	UBERON:0003053	39.83	gold quality
skeletal muscle tissue	UBERON:0001134	38.96	gold quality
stromal cell of endometrium	CL:0002255	38.73	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.44	gold quality
bone marrow	UBERON:0002371	37.87	gold quality
tonsil	UBERON:0002372	36.74	silver quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	35.16	gold quality
apex of heart	UBERON:0002098	34.56	gold quality
monocyte	CL:0000576	34.53	gold quality
leukocyte	CL:0000738	33.90	gold quality
mucosa of transverse colon	UBERON:0004991	33.77	gold quality
endometrium	UBERON:0001295	31.58	gold quality
testis	UBERON:0000473	31.28	silver quality
left testis	UBERON:0004533	30.87	silver quality
kidney	UBERON:0002113	30.79	gold quality
prefrontal cortex	UBERON:0000451	30.72	gold quality
right testis	UBERON:0004534	30.64	silver quality
liver	UBERON:0002107	30.23	gold quality
urinary bladder	UBERON:0001255	30.10	silver quality
blood	UBERON:0000178	30.02	gold quality
lymph node	UBERON:0000029	28.66	gold quality
right lobe of thyroid gland	UBERON:0001119	28.56	gold quality
gall bladder	UBERON:0002110	28.45	gold quality
right uterine tube	UBERON:0001302	28.40	gold quality
corpus callosum	UBERON:0002336	28.31	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

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6b1	ENSMUSG00000049168
rattus_norvegicus	Or6b1	ENSRNOG00000086599

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

Olfactory receptor 6B1 — O95007 (reviewed: O95007)

Alternative names: Olfactory receptor 7-3, Olfactory receptor OR7-9

All UniProt accessions (1): O95007

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_001005281* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95007-F1	87.08	0.56

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: 24 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr7q35, 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, E2F3_UP.V1_DN, GSE10856_CTRL_VS_TNFRSF6B_IN_MACROPHAGE_UP, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), protein binding (GO:0005515)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6B1	OGG1	P78554	457
OR6B1	PCDH15	Q96QU1	317
OR6B1	LIPG	Q9Y5X9	299
OR6B1	USH2A	O75445	297
OR6B1	TYR	P14679	232
OR6B1	ALPK3	Q96L96	231
OR6B1	TYRP1	P17643	230
OR6B1	LAMC3	Q9Y6N6	223
OR6B1	RASL11A	Q6T310	222
OR6B1	APOB	P04114	215
OR6B1	CYP4F2	P78329	214
OR6B1	XIRP1	Q702N8	214
OR6B1	EHD3	Q9NZN3	212
OR6B1	ABCC6	P78420	205
OR6B1	DYNC2H1	Q8NCM8	205

IntAct

15 interactions, top by confidence:

A	B	Type	Score
OR6B1	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
OR6B1	INCA1	psi-mi:“MI:0915”(physical association)	0.560
OR6B1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
CRX	OR6B1	psi-mi:“MI:0915”(physical association)	0.560
OR6B1	KIAA1549	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
OR6B1	MEOX2	psi-mi:“MI:0915”(physical association)	0.000
OR6B1	CRX	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): OR6B1 (Two-hybrid), OR6B1 (Two-hybrid), OR6B1 (Two-hybrid), OR6B1 (Two-hybrid), RNF181 (Affinity Capture-MS), KIAA1549 (Affinity Capture-MS), OR6B1 (Affinity Capture-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: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

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	48
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

356 predictions. Top by Δscore:

Variant	Effect	Δscore
7:144004229:TGCCC:T	donor_gain	0.9400
7:144004230:GCCCA:G	donor_gain	0.8800
7:144004022:TCACC:T	donor_gain	0.8700
7:144004237:T:G	donor_gain	0.8200
7:144004225:ACT:A	donor_gain	0.7500
7:144004226:C:G	donor_gain	0.7500
7:144004243:T:G	donor_gain	0.7200
7:144004053:GAGCT:G	donor_gain	0.7000
7:144004061:G:GG	donor_gain	0.6700
7:144004110:A:AG	acceptor_gain	0.6400
7:144004111:G:GG	acceptor_gain	0.6400
7:144004060:A:AG	donor_gain	0.6300
7:144004728:G:GA	donor_gain	0.6300
7:144004734:C:A	donor_gain	0.5900
7:144004965:G:GG	donor_gain	0.5900
7:144004824:T:G	acceptor_gain	0.5800
7:144004256:C:A	donor_gain	0.5700
7:144004856:T:G	acceptor_gain	0.5700
7:144004866:A:AG	acceptor_gain	0.5700
7:144004688:G:GT	donor_gain	0.5600
7:144004689:A:T	donor_gain	0.5600
7:144004781:T:G	donor_gain	0.5600
7:144004964:A:AG	donor_gain	0.5600
7:144004057:T:TG	donor_gain	0.5400
7:144004167:GCC:G	donor_gain	0.5400
7:144004730:T:TA	donor_gain	0.5400
7:144004731:G:GA	donor_gain	0.5400
7:144004732:G:GG	donor_gain	0.5400
7:144004958:GGTC:G	donor_gain	0.5400
7:144004319:T:G	acceptor_gain	0.5300

AlphaMissense

2046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:144004030:T:C	F12L	0.919
7:144004032:C:A	F12L	0.919
7:144004032:C:G	F12L	0.919
7:144004498:T:C	F168L	0.910
7:144004500:C:A	F168L	0.910
7:144004500:C:G	F168L	0.910
7:144004205:A:T	E70V	0.877
7:144004525:T:C	F177L	0.869
7:144004527:C:A	F177L	0.869
7:144004527:C:G	F177L	0.869
7:144004741:T:C	F249L	0.864
7:144004743:C:A	F249L	0.864
7:144004743:C:G	F249L	0.864
7:144004122:C:A	N42K	0.862
7:144004122:C:G	N42K	0.862
7:144004361:G:C	R122P	0.856
7:144004848:C:A	N284K	0.840
7:144004848:C:G	N284K	0.840
7:144004441:T:A	W149R	0.831
7:144004441:T:C	W149R	0.831
7:144004528:T:C	F178L	0.828
7:144004530:C:A	F178L	0.828
7:144004530:C:G	F178L	0.828
7:144004031:T:C	F12S	0.827
7:144004045:T:C	F17L	0.823
7:144004047:C:A	F17L	0.823
7:144004047:C:G	F17L	0.823
7:144004359:C:A	D121E	0.821
7:144004359:C:G	D121E	0.821
7:144004869:A:C	R291S	0.820

dbSNP variants (sampled 300 via entrez): RS1000069939 (7:144005772 A>T), RS1000392111 (7:144008644 T>A), RS1000460420 (7:144002371 A>G), RS1000672500 (7:144007181 A>C,G), RS1000761422 (7:144008400 A>G), RS1001483804 (7:144008679 T>C,G), RS1001515084 (7:144008945 G>C), RS1001745374 (7:144003336 A>C,G), RS1001821295 (7:144004355 A>G), RS1001951844 (7:144001539 T>A), RS1002028941 (7:144001962 T>C), RS1002070142 (7:144003143 C>A), RS1002258200 (7:144009005 G>A), RS1003760104 (7:144005362 G>T), RS1003851508 (7:144004945 G>A,C,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

2 associations (top):

Study	Trait	p-value
GCST010136_23	Fruit consumption	5.000000e-08
GCST010136_24	Fruit consumption	1.000000e-48

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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