OR2L8

Summary

OR2L8 (olfactory receptor family 2 subfamily L member 8, HGNC:15014) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2L8 (Q8NGY9). 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 391190 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001001963

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15014
Approved symbol	OR2L8
Name	olfactory receptor family 2 subfamily L member 8
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279263
Ensembl biotype	protein_coding
Entrez	391190

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000623922

RefSeq mRNA: 1 — MANE Select: NM_001001963 NM_001001963

Canonical transcript exons

ENST00000623922 — 1 exons

Exon	Start	End
ENSE00003760063	247948858	247949796

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 41.29.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	41.29	gold quality
lower esophagus mucosa	UBERON:0035834	39.65	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
bone marrow	UBERON:0002371	36.98	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.94	gold quality
apex of heart	UBERON:0002098	34.46	gold quality
adrenal tissue	UBERON:0018303	33.13	silver quality
muscle tissue	UBERON:0002385	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
primary visual cortex	UBERON:0002436	31.50	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
lymph node	UBERON:0000029	30.43	gold quality
urinary bladder	UBERON:0001255	30.42	gold quality
tonsil	UBERON:0002372	30.42	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
blood	UBERON:0000178	28.99	gold quality
liver	UBERON:0002107	28.93	gold quality
duodenum	UBERON:0002114	28.14	gold quality
superior frontal gyrus	UBERON:0002661	27.21	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.13	gold quality
monocyte	CL:0000576	25.98	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
right lung	UBERON:0002167	25.40	gold quality
muscle of leg	UBERON:0001383	25.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2l5	ENSMUSG00000045341
rattus_norvegicus	Or2l5	ENSRNOG00000081703

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 2L8 — Q8NGY9 (reviewed: Q8NGY9)

Alternative names: Olfactory receptor OR1-46

All UniProt accessions (1): Q8NGY9

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_001001963* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (25 total): topological domain 8, transmembrane region 7, sequence variant 6, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGY9-F1	90.81	0.78

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 (2): 5, 88

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, chr1q44, 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, BDP1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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 (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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

222 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2L8	MAGEB16	A2A368	589
OR2L8	SLC22A24	Q8N4F4	540
OR2L8	SLC22A10	Q63ZE4	519
OR2L8	ZNF117	Q03924	506
OR2L8	GPSM1	Q86YR5	499
OR2L8	TMEM244	Q5VVB8	430
OR2L8	OPRM1	P35372	414
OR2L8	ANKDD1B	A6NHY2	398
OR2L8	APOL2	Q9BQE5	380
OR2L8	MMS22L	Q6ZRQ5	380
OR2L8	MS4A14	Q96JA4	377
OR2L8	MOB3C	Q70IA8	374
OR2L8	OR10J5	Q8NHC4	362
OR2L8	USP29	Q9HBJ7	348
OR2L8	FAM187B	Q17R55	329

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

228 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247949626:A:AG	acceptor_gain	0.8800
1:247949627:C:G	acceptor_gain	0.8600
1:247949625:C:G	acceptor_gain	0.7400
1:247949500:T:G	acceptor_gain	0.7100
1:247949488:ATT:A	acceptor_gain	0.6800
1:247949490:T:A	acceptor_gain	0.6700
1:247949508:T:G	acceptor_gain	0.6700
1:247949635:C:G	acceptor_gain	0.6700
1:247949624:A:AG	acceptor_gain	0.6500
1:247949177:G:GT	donor_gain	0.6100
1:247949740:G:GT	donor_gain	0.6100
1:247949631:T:G	acceptor_gain	0.6000
1:247949507:ATGGC:A	acceptor_gain	0.5900
1:247949411:C:G	donor_gain	0.5800
1:247949507:ATG:A	acceptor_gain	0.5600
1:247949762:GA:G	donor_gain	0.5600
1:247949181:TGCAG:T	donor_gain	0.5500
1:247949499:AT:A	acceptor_gain	0.5400
1:247949511:CCA:C	acceptor_loss	0.5400
1:247949512:CA:C	acceptor_loss	0.5400
1:247949634:A:AG	acceptor_gain	0.5400
1:247949455:T:TG	donor_gain	0.5300
1:247949499:A:AG	acceptor_gain	0.5300
1:247949508:T:TA	acceptor_gain	0.5300
1:247949594:T:TA	donor_gain	0.5100
1:247949595:A:AA	donor_gain	0.5100
1:247949764:G:GG	donor_gain	0.5100
1:247949507:AT:A	acceptor_gain	0.5000
1:247949630:A:AG	acceptor_gain	0.5000
1:247948961:T:A	acceptor_gain	0.4900

AlphaMissense

2053 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247948888:T:C	F11L	0.894
1:247948890:C:A	F11L	0.894
1:247948890:C:G	F11L	0.894
1:247949383:T:C	F176L	0.877
1:247949385:C:A	F176L	0.877
1:247949385:C:G	F176L	0.877
1:247949458:A:C	S201R	0.853
1:247949460:T:A	S201R	0.853
1:247949460:T:G	S201R	0.853
1:247949725:A:C	S290R	0.847
1:247949727:C:A	S290R	0.847
1:247949727:C:G	S290R	0.847
1:247949386:T:C	F177L	0.813
1:247949388:C:A	F177L	0.813
1:247949388:C:G	F177L	0.813
1:247948957:T:C	F34L	0.798
1:247948959:C:A	F34L	0.798
1:247948959:C:G	F34L	0.798
1:247949155:A:C	S100R	0.787
1:247949157:T:A	S100R	0.787
1:247949157:T:G	S100R	0.787
1:247949158:T:C	F101L	0.773
1:247949160:C:A	F101L	0.773
1:247949160:C:G	F101L	0.773
1:247949712:C:A	N285K	0.765
1:247949712:C:G	N285K	0.765
1:247949389:T:A	C178S	0.763
1:247949390:G:C	C178S	0.763
1:247949219:G:C	R121P	0.755
1:247949299:T:A	W148R	0.753

dbSNP variants (sampled 300 via entrez): RS1000084688 (1:247949745 G>A), RS1001559828 (1:247950198 T>A), RS1001560346 (1:247947058 T>C), RS1001904959 (1:247947393 G>A), RS1003944438 (1:247948332 G>T), RS1004252684 (1:247948044 A>G), RS1008477570 (1:247948023 T>C), RS1010760983 (1:247948779 A>G), RS1010945869 (1:247948585 T>A,C,G), RS1011768269 (1:247947428 A>G,T), RS1011959398 (1:247948722 A>G), RS1012437508 (1:247949773 A>C,G,T), RS1013850 (1:247947559 T>A,C,G), RS1013850688 (1:247949950 A>G), RS1019772621 (1:247947848 G>A)

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

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

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Vanadates	increases expression	1

Clinical trials (associated diseases)

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