OR8I2

Summary

OR8I2 (olfactory receptor family 8 subfamily I member 2, HGNC:15310) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8I2 (Q8N0Y5). 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 120586 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001003750

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15310
Approved symbol	OR8I2
Name	olfactory receptor family 8 subfamily I member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172154
Ensembl biotype	protein_coding
Entrez	120586

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000302124

RefSeq mRNA: 1 — MANE Select: NM_001003750 NM_001003750

CCDS: CCDS31517

Canonical transcript exons

ENST00000302124 — 1 exons

Exon	Start	End
ENSE00003784798	56093308	56094240

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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	35.31	gold quality
muscle tissue	UBERON:0002385	33.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	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
liver	UBERON:0002107	28.63	gold quality
urinary bladder	UBERON:0001255	28.21	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.56	gold quality
monocyte	CL:0000576	27.55	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	26.19	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
muscle of leg	UBERON:0001383	24.87	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
fundus of stomach	UBERON:0001160	24.49	gold quality
pancreas	UBERON:0001264	24.31	gold quality
superior frontal gyrus	UBERON:0002661	24.08	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	Or8i2	ENSMUSG00000075166
rattus_norvegicus	Or8i2	ENSRNOG00000068653

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8I2 — Q8N0Y5 (reviewed: Q8N0Y5)

Alternative names: Olfactory receptor OR11-170

All UniProt accessions (1): Q8N0Y5

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_001003750* (*=MANE)

Domains & families (InterPro)

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

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-Q8N0Y5-F1	89.96	0.70

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): 97–188

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: 18 (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, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

150 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8I2	TRIM48	Q8IWZ4	447
OR8I2	TRIM51	Q9BSJ1	442
OR8I2	KRTAP19-8	Q3LI54	398
OR8I2	ZNF737	O75373	329
OR8I2	KRTAP5-7	Q6L8G8	300
OR8I2	CFAP47	Q6ZTR5	269
OR8I2	TAS2R42	Q7RTR8	267
OR8I2	POTEM	A6NI47	260
OR8I2	LLPH	Q9BRT6	252
OR8I2	VWA3B	Q502W6	248
OR8I2	ENTREP2	O60320	247
OR8I2	KRTAP5-11	Q6L8G4	245
OR8I2	KRTAP5-5	Q701N2	232
OR8I2	TAS2R16	Q9NYV7	221
OR8I2	TM4SF20	Q53R12	220

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NM76, P0C628, P34985, P37067, P37068, P37069, P37070, P37071, P58181, Q60884, Q60886, Q8N0Y5, Q8N127, Q8N146, Q8N162, Q8NGE1, Q8NGE2, Q8NGG4, Q8NGI9, Q8NGL1, Q8NGL3, Q8NGS4, Q8NGS9, Q8NGT1, Q8NGZ9, Q8NH89, Q8VEW5, Q8VEW6, Q8VF66, Q8VFD0, Q8VFD1, Q8VFD2, Q8VFR8, Q8VFV4

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

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	55
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

334 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56093380:G:GG	donor_gain	0.8600
11:56094061:G:A	acceptor_gain	0.6900
11:56094086:AACCT:A	acceptor_gain	0.6900
11:56093378:AA:A	donor_gain	0.6700
11:56093949:A:AG	acceptor_gain	0.6600
11:56093950:G:GG	acceptor_gain	0.6600
11:56094077:C:G	acceptor_gain	0.6600
11:56094086:A:AG	acceptor_gain	0.6600
11:56093379:AGTC:A	donor_loss	0.6500
11:56093380:G:GA	donor_loss	0.6500
11:56093381:T:A	donor_loss	0.6500
11:56094060:T:TA	acceptor_gain	0.6500
11:56093375:TACAA:T	donor_gain	0.6400
11:56093382:CAGTC:C	donor_loss	0.6300
11:56094076:A:AG	acceptor_gain	0.6200
11:56093383:AG:A	donor_loss	0.6100
11:56094080:A:AG	acceptor_gain	0.6100
11:56093377:CAA:C	donor_gain	0.5800
11:56093950:GT:G	acceptor_gain	0.5800
11:56094080:ATTT:A	acceptor_gain	0.5800
11:56093950:GTC:G	acceptor_gain	0.5700
11:56094059:ATG:A	acceptor_gain	0.5700
11:56093335:ACC:A	donor_gain	0.5600
11:56094083:T:A	acceptor_gain	0.5600
11:56094090:T:TA	acceptor_gain	0.5600
11:56094098:C:G	acceptor_gain	0.5500
11:56094068:T:TA	acceptor_gain	0.5400
11:56094081:T:G	acceptor_gain	0.5400
11:56094087:A:G	acceptor_gain	0.5400
11:56093376:ACAA:A	donor_gain	0.5300

AlphaMissense

2035 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56093398:T:C	F31L	0.866
11:56093400:T:A	F31L	0.866
11:56093400:T:G	F31L	0.866
11:56093341:T:C	F12L	0.855
11:56093343:C:A	F12L	0.855
11:56093343:C:G	F12L	0.855
11:56093809:T:C	F168L	0.844
11:56093811:C:A	F168L	0.844
11:56093811:C:G	F168L	0.844
11:56093389:T:C	F28L	0.828
11:56093391:C:A	F28L	0.828
11:56093391:C:G	F28L	0.828
11:56093833:T:C	F176L	0.797
11:56093835:T:A	F176L	0.797
11:56093835:T:G	F176L	0.797
11:56093552:T:C	L82S	0.772
11:56093836:T:C	F177L	0.772
11:56093838:T:A	F177L	0.772
11:56093838:T:G	F177L	0.772
11:56093552:T:G	L82W	0.760
11:56093356:T:C	F17L	0.755
11:56093358:T:A	F17L	0.755
11:56093358:T:G	F17L	0.755
11:56094016:T:C	F237L	0.726
11:56094018:C:A	F237L	0.726
11:56094018:C:G	F237L	0.726
11:56094073:T:C	F256L	0.692
11:56094075:C:A	F256L	0.692
11:56094075:C:G	F256L	0.692
11:56094133:T:C	F276L	0.687

dbSNP variants (sampled 300 via entrez): RS1000151064 (11:56092698 T>C), RS1004035929 (11:56092613 G>C), RS1004356665 (11:56092248 A>T), RS1005271337 (11:56091535 T>G), RS1007703789 (11:56094492 T>G), RS1008545700 (11:56092958 A>G), RS1008632320 (11:56092783 G>A,T), RS1010558362 (11:56092307 T>C), RS1011170034 (11:56091360 C>T), RS1012206971 (11:56094320 G>A), RS1013826771 (11:56093557 A>G), RS1015783324 (11:56092252 G>A), RS1016061414 (11:56094292 A>G), RS1016323120 (11:56094357 A>G), RS1016661986 (11:56093142 G>A,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

0 associations (top):

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
sodium arsenite	decreases expression	1
CGP 52608	increases reaction, affects binding	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Oxygen	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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