OR4S2

Summary

OR4S2 (olfactory receptor family 4 subfamily S member 2, HGNC:15183) is a protein-coding gene on chromosome 11q11, encoding Olfactory receptor 4S2 (Q8NH73). 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 219431 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001004059

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15183
Approved symbol	OR4S2
Name	olfactory receptor family 4 subfamily S member 2
Location	11q11
Locus type	gene with protein product
Status	Approved
Aliases	OST725
Ensembl gene	ENSG00000174982
Ensembl biotype	protein_coding
Entrez	219431

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641692

RefSeq mRNA: 1 — MANE Select: NM_001004059 NM_001004059

CCDS: CCDS31505

Canonical transcript exons

ENST00000641692 — 2 exons

Exon	Start	End
ENSE00003811630	55650868	55652854
ENSE00003813302	55648327	55648550

Expression profiles

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

Top tissues by expression

132 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
granulocyte	CL:0000094	34.97	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
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	29.20	gold quality
liver	UBERON:0002107	28.52	gold quality
leukocyte	CL:0000738	28.38	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.91	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.63	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.14	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
pancreas	UBERON:0001264	24.80	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4s2b	ENSMUSG00000060827
mus_musculus	Or4s2	ENSMUSG00000081948
rattus_norvegicus	Or4s2	ENSRNOG00000072587

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), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4S2 — Q8NH73 (reviewed: Q8NH73)

Alternative names: Olfactory receptor OR11-137

All UniProt accessions (2): A0A126GVG1, Q8NH73

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_001004059* (*=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 (21 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH73-F1	88.27	0.60

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, CAMPS_COLON_CANCER_COPY_NUMBER_DN, 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, chr11q11, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4S2	NPY4R2	P0DQD5	445
OR4S2	NEGR1	Q7Z3B1	394
OR4S2	HEATR4	Q86WZ0	373
OR4S2	ZNF280C	Q8ND82	371
OR4S2	GPRC5B	Q9NZH0	369
OR4S2	ZFP14	Q9HCL3	358
OR4S2	TRIM48	Q8IWZ4	339
OR4S2	LRRC19	Q9H756	323
OR4S2	TRIM51	Q9BSJ1	321
OR4S2	PCDH15	Q96QU1	319
OR4S2	USH2A	O75445	305
OR4S2	TMTC3	Q6ZXV5	301
OR4S2	SLC25A43	Q8WUT9	300
OR4S2	TMEM255A	Q5JRV8	297
OR4S2	DHRSX	Q8N5I4	297

IntAct

0 interactions, top by confidence:

BioGRID (3): OR4S2 (Co-fractionation), OR4S2 (Co-fractionation), OR4S2 (Co-fractionation)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60878, Q60881, Q6IEV9, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGD0, Q8NGD1, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGL6, Q8NGL7, Q8NGL9, Q8NGM1, Q8NGM8, Q8NGN0, Q8NGN8, Q8NGP0, Q8NH05, Q8NH37, Q8NH42

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

388 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55650970:A:T	donor_gain	0.8900
11:55650973:G:GG	donor_gain	0.8600
11:55650969:GAAA:G	donor_gain	0.8300
11:55650974:T:G	donor_gain	0.7400
11:55650922:G:GG	donor_gain	0.7300
11:55651061:T:G	donor_gain	0.7100
11:55650984:G:GA	donor_gain	0.6800
11:55651061:T:TG	donor_gain	0.6800
11:55650965:T:TG	donor_gain	0.6700
11:55650920:AC:A	donor_gain	0.6500
11:55650969:G:GT	donor_gain	0.6300
11:55651138:A:G	donor_gain	0.6300
11:55650918:CAAC:C	donor_gain	0.6200
11:55651207:G:GG	donor_gain	0.6200
11:55651650:C:CA	acceptor_gain	0.6200
11:55651552:A:AG	acceptor_gain	0.6100
11:55651553:G:GG	acceptor_gain	0.6100
11:55650908:A:T	donor_gain	0.6000
11:55651206:A:AG	donor_gain	0.6000
11:55651699:GA:G	donor_gain	0.6000
11:55651162:G:GT	donor_gain	0.5900
11:55651221:T:TA	donor_gain	0.5900
11:55650917:ACAAC:A	donor_gain	0.5700
11:55651311:G:GT	donor_gain	0.5700
11:55651593:C:T	donor_gain	0.5700
11:55651041:A:AG	donor_gain	0.5600
11:55651042:G:GG	donor_gain	0.5600
11:55651700:A:G	donor_gain	0.5600
11:55650919:AACGT:A	donor_loss	0.5500
11:55650920:ACG:A	donor_loss	0.5500

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55651525:A:C	S208R	0.932
11:55651527:T:A	S208R	0.932
11:55651527:T:G	S208R	0.932
11:55650931:T:C	F10L	0.922
11:55650933:C:A	F10L	0.922
11:55650933:C:G	F10L	0.922
11:55651399:T:C	F166L	0.905
11:55651401:T:A	F166L	0.905
11:55651401:T:G	F166L	0.905
11:55651262:G:C	R120P	0.881
11:55651429:T:C	F176L	0.865
11:55651431:T:A	F176L	0.865
11:55651431:T:G	F176L	0.865
11:55651251:G:A	M116I	0.856
11:55651251:G:C	M116I	0.856
11:55651251:G:T	M116I	0.856
11:55651648:T:C	F249L	0.845
11:55651650:C:A	F249L	0.845
11:55651650:C:G	F249L	0.845
11:55651767:A:C	R288S	0.842
11:55651767:A:T	R288S	0.842
11:55651342:T:A	W147R	0.840
11:55651342:T:C	W147R	0.840
11:55650932:T:C	F10S	0.839
11:55651504:A:C	S201R	0.829
11:55651506:T:A	S201R	0.829
11:55651506:T:G	S201R	0.829
11:55651602:A:C	K233N	0.827
11:55651602:A:T	K233N	0.827
11:55651259:A:C	D119A	0.810

dbSNP variants (sampled 300 via entrez): RS1001320988 (11:55646957 G>A), RS1002253043 (11:55647736 C>A,T), RS1003910535 (11:55650760 A>G), RS1004112508 (11:55650868 GTAATT>G), RS1004373781 (11:55650028 C>T), RS1006324483 (11:55653156 C>A), RS1008563373 (11:55648843 C>G), RS1011027729 (11:55652123 C>A), RS1011060308 (11:55651424 A>T), RS1011359401 (11:55648688 C>A,T), RS1011393482 (11:55647853 C>G), RS1013675482 (11:55646375 G>A,T), RS1013937093 (11:55649179 G>T), RS1014060824 (11:55646865 C>T), RS1015741175 (11:55650783 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
GCST005580_35	Intraocular pressure	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	increases abundance, increases expression	1
Aflatoxin B1	decreases methylation	1
Metals, Heavy	increases abundance, increases expression	1

Clinical trials (associated diseases)

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