OR2Y1

Summary

OR2Y1 (olfactory receptor family 2 subfamily Y member 1, HGNC:14837) is a protein-coding gene on chromosome 5q35.3, encoding Olfactory receptor 2Y1 (Q8NGV0). 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 134083 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total — 1 pathogenic
• MANE Select transcript: NM_001001657

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14837
Approved symbol	OR2Y1
Name	olfactory receptor family 2 subfamily Y member 1
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174339
Ensembl biotype	protein_coding
Entrez	134083

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307832

RefSeq mRNA: 1 — MANE Select: NM_001001657 NM_001001657

CCDS: CCDS34323

Canonical transcript exons

ENST00000307832 — 1 exons

Exon	Start	End
ENSE00001186173	180739123	180740058

Expression profiles

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

Top tissues by expression

130 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
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	29.04	gold quality
monocyte	CL:0000576	28.58	gold quality
leukocyte	CL:0000738	28.49	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	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	26.08	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
muscle of leg	UBERON:0001383	24.99	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.14	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.86	gold quality
gastrocnemius	UBERON:0001388	23.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2y16	ENSMUSG00000047702
mus_musculus	Or2y15	ENSMUSG00000063386
mus_musculus	Or2y1d	ENSMUSG00000107573
rattus_norvegicus	Or2y15	ENSRNOG00000079834
rattus_norvegicus	Or2y16	ENSRNOG00000090617
rattus_norvegicus	Or2y1d	ENSRNOG00000091271

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), 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), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2Y1 — Q8NGV0 (reviewed: Q8NGV0)

Alternative names: Olfactory receptor OR5-2

All UniProt accessions (1): Q8NGV0

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_001001657* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 3, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGV0-F1	89.55	0.71

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): 97–188

Glycosylation sites (2): 5, 264

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 21 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, BRUINS_UVC_RESPONSE_LATE, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, RAO_BOUND_BY_SALL4_ISOFORM_B, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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

202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2Y1	ANO2	Q9NQ90	416
OR2Y1	GNG7	O60262	399
OR2Y1	C14orf39	Q8N1H7	397
OR2Y1	IRAG1	Q9Y6F6	377
OR2Y1	PDE2A	O00408	376
OR2Y1	MGAT1	P26572	375
OR2Y1	FGGY	Q96C11	355
OR2Y1	CAMK2D	Q13557	323
OR2Y1	CTR9	Q6PD62	323
OR2Y1	ACER3	Q9NUN7	310
OR2Y1	DGKI	O75912	297
OR2Y1	SLC8A1	P32418	294
OR2Y1	B3GNT2	Q9NY97	293
OR2Y1	NPAS3	Q8IXF0	275
OR2Y1	SLC22A17	Q8WUG5	275

IntAct

0 interactions, top by confidence:

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: 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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	41
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	Pathogenic

SpliceAI

381 predictions. Top by Δscore:

Variant	Effect	Δscore
5:180740054:C:A	donor_gain	0.7600
5:180739770:AC:A	donor_gain	0.7200
5:180739771:CC:C	donor_gain	0.7200
5:180739886:G:C	donor_gain	0.7100
5:180740053:T:TA	donor_gain	0.7100
5:180739693:G:C	donor_gain	0.7000
5:180739710:C:CT	donor_gain	0.7000
5:180739523:T:TG	acceptor_gain	0.6600
5:180739711:C:CT	donor_gain	0.6600
5:180739771:CCCT:C	donor_gain	0.6300
5:180739256:CG:C	donor_gain	0.6200
5:180739706:A:AC	donor_gain	0.6200
5:180739726:CT:C	donor_gain	0.6200
5:180739774:T:A	donor_gain	0.6100
5:180739885:A:AC	donor_gain	0.6100
5:180739977:A:AC	donor_gain	0.6000
5:180739978:C:CC	donor_gain	0.6000
5:180739989:C:CA	donor_gain	0.6000
5:180739723:A:T	donor_gain	0.5900
5:180739767:CACA:C	donor_loss	0.5900
5:180739768:ACACC:A	donor_loss	0.5900
5:180739883:A:C	donor_gain	0.5900
5:180739660:CA:C	acceptor_gain	0.5800
5:180739852:C:CT	acceptor_gain	0.5800
5:180739766:AC:A	donor_loss	0.5700
5:180739249:T:A	donor_gain	0.5600
5:180739256:CGCT:C	donor_gain	0.5600
5:180739357:T:A	donor_gain	0.5600
5:180739725:A:AC	donor_gain	0.5600
5:180739726:C:CC	donor_gain	0.5600

AlphaMissense

2017 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:180739831:G:C	S76R	0.904
5:180739831:G:T	S76R	0.904
5:180739833:T:G	S76R	0.904
5:180740008:G:C	F17L	0.898
5:180740008:G:T	F17L	0.898
5:180740010:A:G	F17L	0.898
5:180739309:A:C	F250L	0.882
5:180739309:A:T	F250L	0.882
5:180739311:A:G	F250L	0.882
5:180740023:G:C	F12L	0.877
5:180740023:G:T	F12L	0.877
5:180740025:A:G	F12L	0.877
5:180739531:G:C	F176L	0.856
5:180739531:G:T	F176L	0.856
5:180739533:A:G	F176L	0.856
5:180739705:C:A	M118I	0.841
5:180739705:C:G	M118I	0.841
5:180739705:C:T	M118I	0.841
5:180739845:A:G	C72R	0.830
5:180739614:A:G	W149R	0.815
5:180739614:A:T	W149R	0.815
5:180739694:C:G	R122P	0.808
5:180739840:G:C	F73L	0.803
5:180739840:G:T	F73L	0.803
5:180739842:A:G	F73L	0.803
5:180739873:A:C	F62L	0.779
5:180739873:A:T	F62L	0.779
5:180739875:A:G	F62L	0.779
5:180740009:A:G	F17S	0.777
5:180739933:G:C	N42K	0.775

dbSNP variants (sampled 300 via entrez): RS1000799380 (5:180740713 C>G,T), RS1001891268 (5:180738849 G>T), RS1003279975 (5:180738653 A>G), RS1005016919 (5:180740484 T>C), RS1005293725 (5:180741340 T>C), RS1005541413 (5:180740191 T>G), RS1007637763 (5:180741740 C>G), RS1007865801 (5:180739941 A>G), RS1009500010 (5:180741257 C>T), RS1010539165 (5:180738703 C>T), RS1011594137 (5:180738839 G>A), RS1011946904 (5:180738960 A>G), RS1012662470 (5:180741128 G>A,T), RS1013092041 (5:180741345 T>A), RS1014908103 (5:180741192 T>A,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

1 associations (top):

Study	Trait	p-value
GCST008476_13	Emphysema annual change measurement in smokers (percent low attenuation area)	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007626	emphysema imaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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