OR4B1

Summary

OR4B1 (olfactory receptor family 4 subfamily B member 1, HGNC:8290) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4B1 (Q8NGF8). 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 119765 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001005470

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8290
Approved symbol	OR4B1
Name	olfactory receptor family 4 subfamily B member 1
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	OST208
Ensembl gene	ENSG00000175619
Ensembl biotype	protein_coding
Entrez	119765

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000309562

RefSeq mRNA: 1 — MANE Select: NM_001005470 NM_001005470

CCDS: CCDS31485

Canonical transcript exons

ENST00000309562 — 1 exons

Exon	Start	End
ENSE00001183564	48216810	48217739

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 41.10.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	41.10	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
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
leukocyte	CL:0000738	31.11	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
monocyte	CL:0000576	30.68	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	29.14	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.38	gold quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.85	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
blood	UBERON:0000178	26.67	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	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
calcaneal tendon	UBERON:0003701	25.43	gold quality
muscle of leg	UBERON:0001383	25.19	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.48

Regulation

Is transcription factor: no

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4b1b	ENSMUSG00000075061
mus_musculus	Or4b12	ENSMUSG00000075062
mus_musculus	Or4b13	ENSMUSG00000075063
mus_musculus	Or4b1	ENSMUSG00000075065
mus_musculus	Or4b1d	ENSMUSG00000075066
mus_musculus	Or4b1c	ENSMUSG00000080809
rattus_norvegicus	Or4b1c	ENSRNOG00000028267
rattus_norvegicus	Or4b1d	ENSRNOG00000052463
rattus_norvegicus	Or4b1	ENSRNOG00000053815
rattus_norvegicus		ENSRNOG00000074046
rattus_norvegicus	Or4b13b	ENSRNOG00000082104

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4B1 — Q8NGF8 (reviewed: Q8NGF8)

Alternative names: OST208, Olfactory receptor OR11-106

All UniProt accessions (2): Q8NGF8, A0A126GVH6

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_001005470* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	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-Q8NGF8-F1	87.12	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): 95–187

Glycosylation sites (1): 6

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, YOSHIMURA_MAPK8_TARGETS_UP, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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 (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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4B1	LNPK	Q9C0E8	661
OR4B1	NALCN	Q8IZF0	571
OR4B1	ARSG	Q96EG1	477
OR4B1	ANO3	Q9BYT9	447
OR4B1	LGSN	Q5TDP6	430
OR4B1	FIGN	Q5HY92	390
OR4B1	TMTC1	Q8IUR5	369
OR4B1	GNAL	P38405	366
OR4B1	TOR1A	O14656	299
OR4B1	PRKRA	O75569	292
OR4B1	PCLO	Q9Y6V0	287
OR4B1	GCH1	P30793	270
OR4B1	THAP1	Q9NVV9	255
OR4B1	DRD1	P21728	244
OR4B1	TOR1AIP2	Q8NFQ8	227

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4B1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

161 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48217556:T:TA	acceptor_gain	0.8600
11:48217440:ATCTT:A	acceptor_gain	0.8500
11:48217125:G:A	acceptor_gain	0.8100
11:48217444:T:A	acceptor_gain	0.7700
11:48217468:T:TA	acceptor_gain	0.7500
11:48217124:T:TA	acceptor_gain	0.6900
11:48217464:ATTCT:A	acceptor_gain	0.6100
11:48216875:GAGT:G	donor_gain	0.5700
11:48217627:ACAC:A	acceptor_gain	0.5700
11:48217557:G:A	acceptor_gain	0.5500
11:48217538:A:AG	acceptor_gain	0.5400
11:48217539:G:GG	acceptor_gain	0.5400
11:48217541:G:GA	donor_gain	0.5300
11:48217579:T:G	acceptor_gain	0.5200
11:48216948:G:GG	donor_gain	0.5100
11:48217578:ATGC:A	acceptor_gain	0.5100
11:48217629:AC:A	acceptor_gain	0.5000
11:48217441:T:G	acceptor_gain	0.4800
11:48217577:C:G	acceptor_gain	0.4800
11:48217578:A:AG	acceptor_gain	0.4800
11:48217630:C:CA	acceptor_gain	0.4800
11:48217538:AGT:A	acceptor_gain	0.4600
11:48217539:GTG:G	acceptor_gain	0.4600
11:48217606:A:G	donor_gain	0.4600
11:48216943:TGACG:T	donor_loss	0.4500
11:48216944:GACGG:G	donor_loss	0.4500
11:48216945:ACGGT:A	donor_loss	0.4500
11:48216946:CGGT:C	donor_loss	0.4500
11:48216947:GGTC:G	donor_loss	0.4500
11:48216949:T:A	donor_loss	0.4500

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48217305:T:C	F166L	0.764
11:48217307:C:A	F166L	0.764
11:48217307:C:G	F166L	0.764
11:48216894:T:C	F29L	0.687
11:48216896:T:A	F29L	0.687
11:48216896:T:G	F29L	0.687
11:48217554:T:C	F249L	0.656
11:48217556:T:A	F249L	0.656
11:48217556:T:G	F249L	0.656
11:48216885:T:C	F26L	0.640
11:48216887:T:A	F26L	0.640
11:48216887:T:G	F26L	0.640
11:48217107:T:C	F100L	0.633
11:48217109:C:A	F100L	0.633
11:48217109:C:G	F100L	0.633
11:48217335:T:C	F176L	0.631
11:48217337:C:A	F176L	0.631
11:48217337:C:G	F176L	0.631
11:48217569:T:C	F254L	0.628
11:48217571:C:A	F254L	0.628
11:48217571:C:G	F254L	0.628
11:48217017:A:C	S70R	0.606
11:48217019:T:A	S70R	0.606
11:48217019:T:G	S70R	0.606
11:48217055:C:A	D82E	0.600
11:48217055:C:G	D82E	0.600
11:48217248:T:A	W147R	0.598
11:48217248:T:C	W147R	0.598
11:48217623:T:C	F272L	0.584
11:48217625:C:A	F272L	0.584

dbSNP variants (sampled 300 via entrez): RS1001004967 (11:48216414 T>C), RS1002040993 (11:48217349 G>C), RS1003230748 (11:48214868 T>C), RS1004025195 (11:48217611 C>A,G), RS1004873548 (11:48215716 G>C), RS1005438138 (11:48216691 T>C), RS1006031757 (11:48215453 A>C), RS1007115849 (11:48215356 A>G), RS1010088723 (11:48218072 G>A), RS1010858356 (11:48214905 C>G,T), RS1010970739 (11:48215119 C>T), RS1012229874 (11:48216319 G>A), RS1013047366 (11:48214877 T>C), RS1014213926 (11:48217270 C>A,T), RS1015530659 (11:48217028 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

4 associations (top):

Study	Trait	p-value
GCST008058_252	Estimated glomerular filtration rate	5.000000e-13
GCST008059_237	Estimated glomerular filtration rate	5.000000e-10
GCST008064_8	Chronic kidney disease	6.000000e-08
GCST010774_12	Essential hypertension (time to event)	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004918	age at diagnosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

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

Clinical trials (associated diseases)

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