OR2W1

Summary

OR2W1 (olfactory receptor family 2 subfamily W member 1, HGNC:8281) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2W1 (Q9Y3N9). 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 26692 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_030903

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8281
Approved symbol	OR2W1
Name	olfactory receptor family 2 subfamily W member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-15
Ensembl gene	ENSG00000204704
Ensembl biotype	protein_coding
Entrez	26692

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377175

RefSeq mRNA: 1 — MANE Select: NM_030903 NM_030903

CCDS: CCDS4656

Canonical transcript exons

ENST00000377175 — 1 exons

Exon	Start	End
ENSE00001691220	29044213	29045175

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 89.62.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	53.20	gold quality
sural nerve	UBERON:0015488	38.46	silver 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	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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.75	gold quality
leukocyte	CL:0000738	28.65	gold quality
liver	UBERON:0002107	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	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	26.34	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
urinary bladder	UBERON:0001255	25.72	gold quality
calcaneal tendon	UBERON:0003701	25.03	gold quality
muscle of leg	UBERON:0001383	25.00	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2w1b	ENSMUSG00000060404
mus_musculus	Or2w1	ENSMUSG00000071522
rattus_norvegicus	Or2w1	ENSRNOG00000073548
rattus_norvegicus		ENSRNOG00000081406

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 2W1 — Q9Y3N9 (reviewed: Q9Y3N9)

Alternative names: Hs6M1-15, Olfactory receptor OR6-13

All UniProt accessions (2): Q9Y3N9, A0A126GVA1

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_112165* (*=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-Q9Y3N9-F1	88.51	0.57

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): 97–189

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: 29 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, HNF1_Q6, KEGG_OLFACTORY_TRANSDUCTION, AACTTT_UNKNOWN, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, POU3F2_02, HNF1_01, 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, WP_GPCRS_CLASS_A_RHODOPSINLIKE

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

196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2W1	ZNF311	Q5JNZ3	525
OR2W1	ZC2HC1C	Q53FD0	447
OR2W1	PTCRA	Q6ISU1	445
OR2W1	CD72	P21854	426
OR2W1	GZMH	P20718	420
OR2W1	RPP38	P78345	418
OR2W1	TCP11	Q8WWU5	410
OR2W1	TAAR5	O14804	398
OR2W1	RTP1	P59025	394
OR2W1	VWA3A	A6NCI4	392
OR2W1	IGFN1	Q86VF2	379
OR2W1	MIER2	Q8N344	370
OR2W1	ZNF721	Q8TF20	358
OR2W1	SYNE1	Q8NF91	353
OR2W1	BPIFB3	P59826	348

IntAct

0 interactions, top by confidence:

BioGRID (2): OR2W1 (Reconstituted Complex), APP (Reconstituted Complex)

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, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

236 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29044522:A:C	acceptor_gain	0.9300
6:29044521:CA:C	acceptor_gain	0.9200
6:29044527:A:C	acceptor_gain	0.8800
6:29044529:A:C	acceptor_gain	0.8800
6:29044521:C:T	acceptor_gain	0.8100
6:29044522:A:T	acceptor_gain	0.8100
6:29044527:A:AC	acceptor_gain	0.8100
6:29044520:CCA:C	acceptor_gain	0.8000
6:29044522:A:AC	acceptor_gain	0.7800
6:29044529:A:AC	acceptor_gain	0.7000
6:29044887:A:AT	donor_gain	0.7000
6:29044514:A:AC	acceptor_gain	0.6900
6:29044514:A:C	acceptor_gain	0.6200
6:29044516:G:C	acceptor_gain	0.6200
6:29044508:T:C	acceptor_gain	0.5800
6:29044516:G:GC	acceptor_gain	0.5700
6:29044897:G:C	donor_gain	0.5600
6:29044403:A:C	acceptor_gain	0.5400
6:29044512:CAA:C	acceptor_gain	0.5400
6:29045089:T:TA	donor_gain	0.5400
6:29044508:T:TC	acceptor_gain	0.5200
6:29045046:CTGTG:C	donor_gain	0.5200
6:29045047:TGTGT:T	donor_gain	0.5200
6:29044419:C:CT	acceptor_gain	0.5100
6:29044886:C:CT	donor_gain	0.5100
6:29045051:TTAC:T	donor_loss	0.5100
6:29045052:TAC:T	donor_loss	0.5100
6:29045053:ACC:A	donor_loss	0.5100
6:29045054:C:CG	donor_loss	0.5100
6:29045055:CCA:C	donor_loss	0.5100

AlphaMissense

2112 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29044324:A:C	S284R	0.916
6:29044324:A:T	S284R	0.916
6:29044326:T:G	S284R	0.916
6:29045125:G:C	F17L	0.903
6:29045125:G:T	F17L	0.903
6:29045127:A:G	F17L	0.903
6:29045140:A:C	F12L	0.899
6:29045140:A:T	F12L	0.899
6:29045142:A:G	F12L	0.899
6:29044423:G:C	F251L	0.888
6:29044423:G:T	F251L	0.888
6:29044425:A:G	F251L	0.888
6:29044720:A:C	S152R	0.881
6:29044720:A:T	S152R	0.881
6:29044722:T:G	S152R	0.881
6:29044948:G:C	S76R	0.881
6:29044948:G:T	S76R	0.881
6:29044950:T:G	S76R	0.881
6:29044645:G:C	F177L	0.870
6:29044645:G:T	F177L	0.870
6:29044647:A:G	F177L	0.870
6:29044807:A:C	F123L	0.860
6:29044807:A:T	F123L	0.860
6:29044809:A:G	F123L	0.860
6:29044811:C:G	R122P	0.846
6:29044822:C:A	M118I	0.812
6:29044822:C:G	M118I	0.812
6:29044822:C:T	M118I	0.812
6:29044962:A:G	C72R	0.811
6:29044318:G:C	N286K	0.774

dbSNP variants (sampled 300 via entrez): RS1000041620 (6:29045268 G>A), RS1000991955 (6:29046413 C>G), RS1001254312 (6:29047044 A>G,T), RS1001877932 (6:29045845 G>A), RS1002333657 (6:29046134 TAAAC>T), RS1003601235 (6:29044756 T>C), RS1003955722 (6:29044315 C>T), RS1003993575 (6:29045498 TA>T,TAA), RS1004044380 (6:29045787 T>A), RS1005612312 (6:29043889 G>C), RS1005705656 (6:29044259 C>A), RS1007109645 (6:29044016 T>C), RS1007414053 (6:29045500 A>T), RS1009602526 (6:29045691 T>C), RS1015000475 (6:29047094 C>G)

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

21 associations (top):

Study	Trait	p-value
GCST002194_1	Social communication problems	3.000000e-07
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_212	Autism spectrum disorder or schizophrenia	5.000000e-14
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_7	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST004521_84	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_91	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST008916_89	Asthma	2.000000e-10
GCST008921_4	Asthma and major depressive disorder	2.000000e-11
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16
GCST011773_1	Type 1 diabetes (age at diagnosis)	2.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004918	age at diagnosis

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
propionaldehyde	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation	1
Asbestos, Crocidolite	affects expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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