OR2W3

Summary

OR2W3 (olfactory receptor family 2 subfamily W member 3, HGNC:15021) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2W3 (Q7Z3T1). 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 343171 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 261 total
• MANE Select transcript: NM_001001957

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15021
Approved symbol	OR2W3
Name	olfactory receptor family 2 subfamily W member 3
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	OST718
Ensembl gene	ENSG00000238243
Ensembl biotype	protein_coding
OMIM	616729
Entrez	343171

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000360358

RefSeq mRNA: 1 — MANE Select: NM_001001957 NM_001001957

CCDS: CCDS31099

Canonical transcript exons

ENST00000360358 — 1 exons

Exon	Start	End
ENSE00001410647	247895587	247896531

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 90.06.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.06	gold quality
blood	UBERON:0000178	87.07	gold quality
monocyte	CL:0000576	83.02	gold quality
leukocyte	CL:0000738	81.51	gold quality
trabecular bone tissue	UBERON:0002483	75.53	gold quality
bone marrow	UBERON:0002371	73.87	gold quality
right lobe of thyroid gland	UBERON:0001119	71.94	gold quality
left lobe of thyroid gland	UBERON:0001120	71.13	gold quality
thyroid gland	UBERON:0002046	69.93	gold quality
prefrontal cortex	UBERON:0000451	68.18	gold quality
cortical plate	UBERON:0005343	67.50	gold quality
tibial nerve	UBERON:0001323	65.30	gold quality
bone marrow cell	CL:0002092	64.50	gold quality
granulocyte	CL:0000094	64.05	gold quality
hypothalamus	UBERON:0001898	63.28	gold quality
right frontal lobe	UBERON:0002810	62.57	gold quality
ileal mucosa	UBERON:0000331	62.34	silver quality
anterior cingulate cortex	UBERON:0009835	62.25	gold quality
Brodmann (1909) area 9	UBERON:0013540	61.76	gold quality
frontal cortex	UBERON:0001870	61.65	gold quality
neocortex	UBERON:0001950	61.09	gold quality
stromal cell of endometrium	CL:0002255	59.53	gold quality
nucleus accumbens	UBERON:0001882	59.51	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	59.35	gold quality
tibialis anterior	UBERON:0001385	59.11	silver quality
pancreatic ductal cell	CL:0002079	57.60	silver quality
right lung	UBERON:0002167	56.78	gold quality
cerebral cortex	UBERON:0000956	56.55	gold quality
mucosa of transverse colon	UBERON:0004991	55.63	gold quality
caudate nucleus	UBERON:0001873	54.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.05

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 7)

• Our results provided a new insight into susceptibility of USF1 variant with male infertility. rs11204546 of OR2W3 and rs11677854 of GTF2A1L might be additional valuable molecular predictive markers (PMID:25374392)
• A novel missense mutation, c. 424 C > T transition (p.R142W) in OR2W3 gene, was identified as a potentially causative mutation for autosomal dominant Retinitis pigmentosa. (PMID:25783483)
• OR2W3 is associated with genetic susceptibility to Japanese male infertility. (PMID:25847845)
• We therefore conclude that this sequence variant, and hence the OR2W3 gene, do not cause RP. Prompted by these findings and based on simple principles of population genetics, we suggest that WES studies should consider DNA variants as the possible cause of dominant RP only if they are present in less than 1:100,000 individuals from the general population. (PMID:26891008)
• This outstanding specificity of extremely narrowly tuned human OR2M3 can explain both odor qualities and odor threshold trend within a homologous series of 3-mercapto-2-methylalkan-1-ols and suggests a modern human-specific, food-related function of OR2M3 in detecting a single onion key food odorant. (PMID:27916748)
• A signal in a nearby olfactory receptor on chromosome 1, olfactory receptor family 2 subfamily L member 13 (OR2L13), tagged by rs151319968, was nominally associated with PTSD in the AI sample. Although no variants were significantly associated after correction for multiple testing in a meta-analysis of the two cohorts, pathway analysis of the top hits showed an enrichment cluster of terms related to sensory transduction. (PMID:28262088)
• The odorant receptor OR2W3 on airway smooth muscle evokes bronchodilation via a cooperative chemosensory tradeoff between TMEM16A and CFTR. (PMID:33097666)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2w3b	ENSMUSG00000060030
mus_musculus	Or2w3	ENSMUSG00000063549
rattus_norvegicus		ENSRNOG00000074302

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 2W3 — Q7Z3T1 (reviewed: Q7Z3T1)

Alternative names: Olfactory receptor 2W8, Olfactory receptor OR1-49

All UniProt accessions (1): Q7Z3T1

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_001001957* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (24 total): topological domain 8, transmembrane region 7, sequence variant 7, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3T1-F1	77.34	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

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: 32 (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, STK33_SKM_DN, TERF2_TARGET_GENES, WP_MALE_INFERTILITY, DESCARTES_FETAL_CEREBRUM_MEGAKARYOCYTES

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-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
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

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2W3	TRIM58	Q8NG06	746
OR2W3	ZNF214	Q9UL59	494
OR2W3	PALM3	A6NDB9	413
OR2W3	FSCN2	O14926	400
OR2W3	TAS2R38	P59533	386
OR2W3	TSSC4	Q9Y5U2	383
OR2W3	CNGA4	Q8IV77	356
OR2W3	ZHX2	Q9Y6X8	339
OR2W3	GUCA1B	Q9UMX6	337
OR2W3	RTP2	Q5QGT7	329
OR2W3	CSMD3	Q7Z407	324
OR2W3	ROM1	Q03395	307
OR2W3	CHRM4	P08173	306
OR2W3	ROBO2	Q9HCK4	305
OR2W3	RTP1	P59025	299

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2W3	RHBDD1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (2): OR2W3 (Affinity Capture-MS), RHBDD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	187
Likely benign	50
Benign	22

Top pathogenic / likely-pathogenic (0)

SpliceAI

177 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247896342:T:TA	acceptor_gain	0.8000
1:247896177:C:T	donor_gain	0.7600
1:247896194:CGGT:C	donor_loss	0.7500
1:247896196:G:GC	donor_loss	0.7500
1:247896197:T:G	donor_loss	0.7500
1:247896200:G:C	donor_loss	0.7400
1:247896341:AT:A	acceptor_gain	0.7400
1:247896192:GGCG:G	donor_gain	0.7300
1:247896193:GCGG:G	donor_gain	0.7300
1:247896198:GG:G	donor_loss	0.7100
1:247896342:T:G	acceptor_gain	0.7000
1:247896193:GCG:G	donor_gain	0.6900
1:247896144:G:GT	donor_gain	0.6700
1:247896093:T:TA	acceptor_gain	0.6600
1:247896196:G:GG	donor_gain	0.6200
1:247896108:G:GA	donor_gain	0.6000
1:247896241:A:AG	acceptor_gain	0.5900
1:247896242:G:GG	acceptor_gain	0.5900
1:247895846:G:GT	donor_gain	0.5800
1:247896201:T:G	donor_loss	0.5800
1:247895989:A:AG	donor_gain	0.5700
1:247896156:C:A	donor_gain	0.5700
1:247896242:GCTA:G	acceptor_gain	0.5700
1:247895865:C:G	donor_gain	0.5600
1:247896343:G:A	acceptor_gain	0.5600
1:247896021:GTC:G	donor_gain	0.5500
1:247896107:T:TA	donor_gain	0.5500
1:247896237:TTACA:T	acceptor_loss	0.5500
1:247896238:TACAG:T	acceptor_loss	0.5500
1:247896239:ACAG:A	acceptor_loss	0.5500

AlphaMissense

2027 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247895635:T:C	F17L	0.780
1:247895637:C:A	F17L	0.780
1:247895637:C:G	F17L	0.780
1:247896337:T:C	F251L	0.736
1:247896339:C:A	F251L	0.736
1:247896339:C:G	F251L	0.736
1:247895803:T:C	F73L	0.710
1:247895805:C:A	F73L	0.710
1:247895805:C:G	F73L	0.710
1:247895620:T:C	F12L	0.686
1:247895622:C:A	F12L	0.686
1:247895622:C:G	F12L	0.686
1:247895896:T:C	F104L	0.666
1:247895898:C:A	F104L	0.666
1:247895898:C:G	F104L	0.666
1:247895767:T:C	F61L	0.659
1:247895769:C:A	F61L	0.659
1:247895769:C:G	F61L	0.659
1:247895940:G:A	M118I	0.634
1:247895940:G:C	M118I	0.634
1:247895940:G:T	M118I	0.634
1:247896115:T:C	F177L	0.621
1:247896117:C:A	F177L	0.621
1:247896117:C:G	F177L	0.621
1:247896298:T:C	F238L	0.621
1:247896300:C:A	F238L	0.621
1:247896300:C:G	F238L	0.621
1:247895770:T:C	F62L	0.615
1:247895772:C:A	F62L	0.615
1:247895772:C:G	F62L	0.615

dbSNP variants (sampled 300 via entrez): RS1000142214 (1:247894941 A>G), RS1002994863 (1:247894851 A>G), RS1003993393 (1:247894606 T>G), RS1005054038 (1:247895442 T>C), RS1005440058 (1:247896622 A>C,G,T), RS1005880893 (1:247895395 A>G), RS1012683870 (1:247895931 G>A,C), RS1014360396 (1:247896966 G>T), RS1014659252 (1:247895061 A>T), RS1014966954 (1:247895447 C>T), RS1015306281 (1:247895019 A>G), RS1016228378 (1:247896429 C>T), RS1019112909 (1:247894948 G>A), RS1020033936 (1:247894402 A>G,T), RS1021501099 (1:247895757 C>T)

Disease associations

OMIM: gene MIM:616729 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST004603_204	Platelet count	9.000000e-17
GCST004619_100	Reticulocyte fraction of red cells	2.000000e-54
GCST004621_46	Red cell distribution width	2.000000e-27
GCST004622_144	Reticulocyte count	2.000000e-54
GCST004630_20	Mean corpuscular hemoglobin	2.000000e-18
GCST006879_25	Blood metabolite levels	9.000000e-16
GCST008529_46	Tea consumption	4.000000e-07
GCST90002395_516	Mean platelet volume	2.000000e-30
GCST90002395_518	Mean platelet volume	7.000000e-42
GCST90002404_7	Red cell distribution width	3.000000e-22
GCST90002405_104	Reticulocyte count	3.000000e-27
GCST90002405_105	Reticulocyte count	1.000000e-10
GCST90002406_1	Reticulocyte fraction of red cells	2.000000e-17

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004527	mean corpuscular hemoglobin
EFO:0010091	tea consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
1,6-hexamethylene diisocyanate	affects expression	1
trimellitic anhydride	affects expression	1
ammonium hexachloroplatinate	affects expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
Sunitinib	decreases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Fenfluramine	increases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases expression, affects response to substance	1
Malathion	increases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	affects expression	1
Sodium Selenite	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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