OR8B4

Summary

OR8B4 (olfactory receptor family 8 subfamily B member 4, HGNC:8473) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8B4 (Q96RC9). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 283162 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001005196

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8473
Approved symbol	OR8B4
Name	olfactory receptor family 8 subfamily B member 4
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000280090
Ensembl biotype	protein_coding
Entrez	283162

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000356130

RefSeq mRNA: 1 — MANE Select: NM_001005196 NM_001005196

CCDS: CCDS31710

Canonical transcript exons

ENST00000356130 — 1 exons

Exon	Start	End
ENSE00001429731	124423942	124424871

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 86.40.

Top tissues by expression

129 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	86.40	silver quality
granulocyte	CL:0000094	37.63	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
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
leukocyte	CL:0000738	29.03	gold quality
liver	UBERON:0002107	28.85	gold quality
monocyte	CL:0000576	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.03	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
urinary bladder	UBERON:0001255	25.72	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.29	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.84	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

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8b4	ENSMUSG00000066747
rattus_norvegicus	Or8b4	ENSRNOG00000076835

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 8B4 — Q96RC9 (reviewed: Q96RC9)

Alternative names: Olfactory receptor OR11-315

All UniProt accessions (1): Q96RC9

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_001005196* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96RC9-F1	89.84	0.72

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): 96–188

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: 19 (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, chr11q24, GOMF_ODORANT_BINDING, 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, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), 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 (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
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to 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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8B4	ZNF684	Q5T5D7	574
OR8B4	FOXD4L6	Q3SYB3	571
OR8B4	FBXO48	Q5FWF7	550
OR8B4	ZNF793	Q6ZN11	527
OR8B4	SBK3	P0C264	526
OR8B4	BHLHA9	Q7RTU4	500
OR8B4	ZNF18	P17022	488
OR8B4	NUP62CL	Q9H1M0	479
OR8B4	CCDC127	Q96BQ5	452
OR8B4	ZNF616	Q08AN1	448
OR8B4	ZNF611	Q8N823	432
OR8B4	KLHL5	Q96PQ7	429
OR8B4	ZNF304	Q9HCX3	411
OR8B4	RBPJL	Q9UBG7	380
OR8B4	FBXL22	Q6P050	370

IntAct

0 interactions, top by confidence:

BioGRID (1): TMEM55B (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: O76100, P23269, P23271, P23272, P23273, P23274, P30953, P30955, P37070, P37071, P70526, Q15619, Q15622, Q60890, Q60893, Q6IF42, Q8N0Y5, Q8NGA1, Q8NGA2, Q8NGC8, Q8NGG1, Q8NGG4, Q8NGL0, Q8NGL2, Q8NGP2, Q8NGS0, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGS4, Q8NGZ9, Q8NH04, Q8NH74, Q8NH80, Q8VEY3, Q8VFM9, Q8VG05, Q8VGI1, Q8WZ84, Q95157

Diamond homologs: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34985, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q6UXT6, Q7TS48, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

281 predictions. Top by Δscore:

Variant	Effect	Δscore
11:124424769:AGATC:A	donor_gain	0.9000
11:124424842:A:AC	donor_gain	0.8100
11:124424842:AGT:A	donor_gain	0.7700
11:124424549:T:TC	acceptor_gain	0.7400
11:124424696:A:C	donor_gain	0.7200
11:124424846:A:AC	donor_gain	0.7200
11:124424847:C:CC	donor_gain	0.7200
11:124424769:AGAT:A	donor_gain	0.6500
11:124424079:C:CT	acceptor_gain	0.6400
11:124424313:AGAG:A	acceptor_loss	0.6300
11:124424316:GC:G	acceptor_loss	0.6300
11:124424317:C:G	acceptor_loss	0.6300
11:124424318:T:A	acceptor_loss	0.6300
11:124424003:C:CC	acceptor_gain	0.6200
11:124424072:A:C	acceptor_gain	0.6000
11:124424319:G:C	acceptor_loss	0.6000
11:124424080:A:T	acceptor_gain	0.5900
11:124424843:G:C	donor_gain	0.5900
11:124423999:CAAA:C	acceptor_gain	0.5700
11:124424314:GAG:G	acceptor_gain	0.5700
11:124424317:C:CC	acceptor_gain	0.5700
11:124424839:CTCAG:C	donor_gain	0.5700
11:124424840:TCAGT:T	donor_gain	0.5700
11:124424841:CAGTC:C	donor_gain	0.5700
11:124424842:AGTCA:A	donor_gain	0.5700
11:124424334:CG:C	acceptor_loss	0.5600
11:124424118:C:T	acceptor_gain	0.5500
11:124424064:C:CT	acceptor_gain	0.5400
11:124424312:GAGAG:G	acceptor_gain	0.5400
11:124424544:C:CT	acceptor_gain	0.5300

AlphaMissense

2030 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:124424836:A:C	F12L	0.832
11:124424836:A:T	F12L	0.832
11:124424838:A:G	F12L	0.832
11:124424371:G:C	F167L	0.805
11:124424371:G:T	F167L	0.805
11:124424373:A:G	F167L	0.805
11:124424569:A:C	F101L	0.632
11:124424569:A:T	F101L	0.632
11:124424571:A:G	F101L	0.632
11:124424779:G:C	F31L	0.618
11:124424779:G:T	F31L	0.618
11:124424781:A:G	F31L	0.618
11:124424788:G:C	F28L	0.590
11:124424788:G:T	F28L	0.590
11:124424790:A:G	F28L	0.590
11:124424122:A:C	F250L	0.584
11:124424122:A:T	F250L	0.584
11:124424124:A:G	F250L	0.584
11:124424641:A:C	F77L	0.576
11:124424641:A:T	F77L	0.576
11:124424643:A:G	F77L	0.576

dbSNP variants (sampled 300 via entrez): RS1001108940 (11:124426802 C>A), RS1001874749 (11:124425576 G>A), RS1002163803 (11:124425815 A>G), RS1002441185 (11:124425197 A>G), RS1002814022 (11:124423875 A>G), RS1002918141 (11:124424565 A>T), RS1005162451 (11:124424600 A>G), RS1005542733 (11:124425012 A>G), RS1006337242 (11:124425760 C>T), RS1006389557 (11:124426075 T>C), RS1007752072 (11:124426278 A>G), RS1009621531 (11:124426553 G>A), RS1010585769 (11:124425158 G>A,C), RS1010873408 (11:124425270 C>T), RS1011205577 (11:124424016 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

1 associations (top):

Study	Trait	p-value
GCST009391_979	Metabolite levels	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010538	taurocholate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Valproic Acid	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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