OR2S2

Summary

OR2S2 (olfactory receptor family 2 subfamily S member 2, HGNC:8276) is a protein-coding gene on chromosome 9p13.3, encoding Olfactory receptor 2S2 (Q9NQN1). 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 56656 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_019897

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8276
Approved symbol	OR2S2
Name	olfactory receptor family 2 subfamily S member 2
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000278889
Ensembl biotype	protein_coding
Entrez	56656

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000341959

RefSeq mRNA: 1 — MANE Select: NM_019897 NM_019897

CCDS: CCDS6596

Canonical transcript exons

ENST00000341959 — 1 exons

Exon	Start	End
ENSE00001388448	35957108	35958154

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 74.74.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pleura	UBERON:0000977	74.74	silver quality
tibialis anterior	UBERON:0001385	72.08	silver quality
ileal mucosa	UBERON:0000331	66.17	silver quality
deltoid	UBERON:0001476	66.15	gold quality
pancreatic ductal cell	CL:0002079	64.92	silver quality
quadriceps femoris	UBERON:0001377	57.16	gold quality
vastus lateralis	UBERON:0001379	55.67	gold quality
epithelium of bronchus	UBERON:0002031	55.41	gold quality
cartilage tissue	UBERON:0002418	55.01	gold quality
epithelium of esophagus	UBERON:0001976	54.28	gold quality
squamous epithelium	UBERON:0006914	54.08	gold quality
dorsal plus ventral thalamus	UBERON:0001897	54.05	gold quality
nasal cavity epithelium	UBERON:0005384	54.04	gold quality
myocardium	UBERON:0002349	53.69	gold quality
trachea	UBERON:0003126	53.64	gold quality
male germ cell	CL:0000015	53.54	gold quality
thymus	UBERON:0002370	53.17	gold quality
layer of synovial tissue	UBERON:0007616	52.79	gold quality
epithelium of mammary gland	UBERON:0003244	52.67	gold quality
epithelial cell of pancreas	CL:0000083	52.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	51.84	gold quality
muscle tissue	UBERON:0002385	51.15	gold quality
skeletal muscle tissue	UBERON:0001134	50.71	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 2S2 — Q9NQN1 (reviewed: Q9NQN1)

Alternative names: Olfactory receptor OR9-3

All UniProt accessions (1): Q9NQN1

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_063950* (*=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 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQN1-F1	83.42	0.48

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): 98–190

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 48 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, chr9p13, KEGG_OLFACTORY_TRANSDUCTION, AACTTT_UNKNOWN, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, GSE13411_NAIVE_VS_SWITCHED_MEMORY_BCELL_UP, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE14769_UNSTIM_VS_20MIN_LPS_BMDM_UP

GO Biological Process (4): sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (3): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
cellular anatomical structure	2
sensory perception of chemical stimulus	1
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
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
nuclear lumen	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2S2	ZPLD1	Q8TCW7	417
OR2S2	PDILT	Q8N807	399
OR2S2	PCDHB1	Q9Y5F3	380
OR2S2	LARP4B	Q92615	375
OR2S2	MTMR4	Q9NYA4	370
OR2S2	NOP14	P78316	366
OR2S2	UBAP1	Q9NZ09	360
OR2S2	MICALL1	Q8N3F8	359
OR2S2	WDR72	Q3MJ13	349
OR2S2	GMPR	P36959	323
OR2S2	MS4A4E	Q96PG1	322
OR2S2	GNPNAT1	Q96EK6	320
OR2S2	LINGO2	Q7L985	315
OR2S2	NGLY1	Q96IV0	305
OR2S2	CDHR3	Q6ZTQ4	302

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2S2	CCPG1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): CCPG1 (Affinity Capture-MS), EMC7 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS)

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: 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

244 predictions. Top by Δscore:

Variant	Effect	Δscore
9:35957290:C:CA	donor_gain	0.7300
9:35957316:C:A	donor_gain	0.7300
9:35957299:T:TA	donor_gain	0.6800
9:35957311:G:C	donor_gain	0.6800
9:35957315:T:TA	donor_gain	0.6800
9:35957397:C:CA	donor_gain	0.6800
9:35957310:A:AC	donor_gain	0.6600
9:35957354:C:CT	donor_gain	0.6600
9:35957241:CCCA:C	acceptor_gain	0.6500
9:35957321:A:AC	donor_gain	0.6500
9:35957322:C:CC	donor_gain	0.6500
9:35957398:C:A	donor_gain	0.6500
9:35957482:A:AC	donor_gain	0.6500
9:35957404:G:C	donor_gain	0.6400
9:35957473:C:CA	donor_gain	0.6400
9:35957337:C:A	donor_gain	0.6200
9:35957310:AGG:A	donor_gain	0.6100
9:35957393:T:A	donor_gain	0.6100
9:35957237:C:CT	donor_gain	0.5900
9:35957350:A:C	donor_gain	0.5900
9:35957278:T:TA	donor_gain	0.5800
9:35957291:C:A	donor_gain	0.5800
9:35957305:G:C	donor_gain	0.5800
9:35957349:GAT:G	donor_gain	0.5800
9:35957414:T:TA	donor_gain	0.5800
9:35957303:TAG:T	donor_gain	0.5700
9:35957304:AGA:A	donor_gain	0.5700
9:35957434:A:AC	acceptor_gain	0.5700
9:35957434:A:C	acceptor_gain	0.5700
9:35957356:A:T	donor_gain	0.5500

AlphaMissense

2093 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:35958060:G:C	F13L	0.936
9:35958060:G:T	F13L	0.936
9:35958062:A:G	F13L	0.936
9:35957748:G:C	S117R	0.882
9:35957748:G:T	S117R	0.882
9:35957750:T:G	S117R	0.882
9:35957592:G:C	F169L	0.875
9:35957592:G:T	F169L	0.875
9:35957594:A:G	F169L	0.875
9:35957343:G:C	F252L	0.852
9:35957343:G:T	F252L	0.852
9:35957345:A:G	F252L	0.852
9:35957382:G:C	F239L	0.845
9:35957382:G:T	F239L	0.845
9:35957384:A:G	F239L	0.845
9:35957205:G:C	S298R	0.823
9:35957205:G:T	S298R	0.823
9:35957207:T:G	S298R	0.823
9:35957731:C:G	R123P	0.822
9:35957565:G:C	F178L	0.812
9:35957565:G:T	F178L	0.812
9:35957567:A:G	F178L	0.812
9:35957742:C:A	M119I	0.803
9:35957742:C:G	M119I	0.803
9:35957742:C:T	M119I	0.803
9:35957199:C:A	R300S	0.800
9:35957199:C:G	R300S	0.800
9:35957502:G:C	S199R	0.796
9:35957502:G:T	S199R	0.796
9:35957504:T:G	S199R	0.796

dbSNP variants (sampled 300 via entrez): RS1001528570 (9:35958419 G>T), RS1001689566 (9:35958838 T>A,G), RS1003097573 (9:35957593 A>C), RS1003152744 (9:35957053 A>T), RS1003257707 (9:35956809 A>G), RS1005288933 (9:35959536 A>C,G), RS1005521648 (9:35959399 T>C), RS1009434741 (9:35959873 T>C), RS1010229334 (9:35958816 G>A), RS1011228858 (9:35957554 A>C,G), RS1011427985 (9:35957255 G>A), RS1014416898 (9:35958866 A>G), RS1014430398 (9:35959153 G>A,T), RS1014667910 (9:35958867 G>A), RS1015111269 (9:35959086 T>C)

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
GCST002827_4	Urate levels (BMI interaction)	2.000000e-06
GCST009391_1317	Metabolite levels	5.000000e-06
GCST011747_2	Estimated glomerular filtration rate (creatinine, Rapid3)	4.000000e-09
GCST011749_2	Estimated glomerular filtration rate (creatinine, Rapid3)	6.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:0010519	pantothenic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Asbestos, Crocidolite	affects expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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