OR2V1

Summary

OR2V1 (olfactory receptor family 2 subfamily V member 1, HGNC:8280) is a protein-coding gene on chromosome 5q35.3, encoding Olfactory receptor 2V1 (Q8NHB1). 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 26693 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001258283

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8280
Approved symbol	OR2V1
Name	olfactory receptor family 2 subfamily V member 1
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	OST265
Ensembl gene	ENSG00000185372
Ensembl biotype	protein_coding
Entrez	26693

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000641318, ENST00000641367, ENST00000641551, ENST00000642036

RefSeq mRNA: 1 — MANE Select: NM_001258283 NM_001258283

CCDS: CCDS58992

Canonical transcript exons

ENST00000641551 — 4 exons

Exon	Start	End
ENSE00003811552	181123122	181125325
ENSE00003813038	181130173	181130215
ENSE00003814068	181131050	181131169
ENSE00003814173	181129520	181129575

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 79.35.

Top tissues by expression

125 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	79.35	silver quality
right uterine tube	UBERON:0001302	59.82	gold quality
fallopian tube	UBERON:0003889	47.31	gold quality
sural nerve	UBERON:0015488	42.57	gold quality
bone marrow cell	CL:0002092	38.39	gold quality
granulocyte	CL:0000094	37.66	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	33.96	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	33.31	gold quality
liver	UBERON:0002107	32.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	31.59	gold quality
thyroid gland	UBERON:0002046	31.55	gold quality
monocyte	CL:0000576	31.33	gold quality
left lobe of thyroid gland	UBERON:0001120	31.28	gold quality
Ammon’s horn	UBERON:0001954	30.45	gold quality
right lobe of thyroid gland	UBERON:0001119	29.96	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
tonsil	UBERON:0002372	28.49	gold quality
gall bladder	UBERON:0002110	28.44	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	28.01	gold quality
right adrenal gland cortex	UBERON:0035827	27.90	gold quality
urinary bladder	UBERON:0001255	27.80	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.61

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2v1	ENSMUSG00000040328
rattus_norvegicus	Or2v1	ENSRNOG00000064581

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 2V1 — Q8NHB1 (reviewed: Q8NHB1)

All UniProt accessions (2): A0A2R8Y893, Q8NHB1

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_001245212* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHB1-F1	85.63	0.49

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): 98–180

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: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ZHENG_BOUND_BY_FOXP3, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr5q35

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

118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2V1	TLDC2	A0PJX2	339
OR2V1	GLYATL3	Q5SZD4	322
OR2V1	FAM117A	Q9C073	320
OR2V1	SLC25A35	Q3KQZ1	275
OR2V1	LCN10	Q6JVE6	263
OR2V1	LCN15	Q6UWW0	257
OR2V1	SCGB1C1	Q8TD33	248
OR2V1	SCGB1C2	P0DMR2	248
OR2V1	OBP2B	Q9NPH6	248
OR2V1	MON1B	Q7L1V2	226
OR2V1	ZNF496	Q96IT1	225
OR2V1	SPEF1	Q9Y4P9	224
OR2V1	SEC14L3	Q9UDX4	222
OR2V1	SVOPL	Q8N434	222
OR2V1	FREM3	P0C091	221

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

279 predictions. Top by Δscore:

Variant	Effect	Δscore
5:181125034:T:TA	donor_gain	0.9400
5:181125300:C:A	donor_gain	0.8500
5:181125296:T:C	donor_gain	0.8200
5:181125299:T:TA	donor_gain	0.8100
5:181125284:CTGGT:C	donor_gain	0.7600
5:181125285:TGGTT:T	donor_gain	0.7600
5:181125288:T:C	donor_gain	0.7200
5:181125035:C:A	donor_gain	0.6900
5:181125178:T:A	donor_gain	0.6900
5:181125202:C:CT	donor_gain	0.6900
5:181125087:A:C	donor_gain	0.6700
5:181125295:ATCTT:A	donor_gain	0.6700
5:181124978:C:T	acceptor_gain	0.6500
5:181125293:C:CT	donor_gain	0.6500
5:181124978:C:CT	acceptor_gain	0.6400
5:181124657:CA:C	acceptor_gain	0.6300
5:181124695:A:T	acceptor_gain	0.6100
5:181125126:A:C	donor_gain	0.6100
5:181125203:C:CT	donor_gain	0.6100
5:181124756:TTGTA:T	donor_loss	0.6000
5:181124757:TGTAC:T	donor_loss	0.6000
5:181124758:GTACC:G	donor_loss	0.6000
5:181124759:TA:T	donor_loss	0.6000
5:181124760:A:C	donor_loss	0.6000
5:181124761:C:T	donor_loss	0.6000
5:181125147:T:TA	donor_gain	0.5700
5:181124658:A:C	acceptor_gain	0.5600
5:181125014:G:GA	donor_gain	0.5600
5:181125038:G:A	donor_gain	0.5600
5:181125121:A:C	donor_gain	0.5600

AlphaMissense

2080 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:181125266:G:C	F13L	0.918
5:181125266:G:T	F13L	0.918
5:181125268:A:G	F13L	0.918
5:181124771:A:C	F178L	0.876
5:181124771:A:T	F178L	0.876
5:181124773:A:G	F178L	0.876
5:181125248:A:C	F19L	0.866
5:181125248:A:T	F19L	0.866
5:181125250:A:G	F19L	0.866
5:181125197:G:C	F36L	0.853
5:181125197:G:T	F36L	0.853
5:181125199:A:G	F36L	0.853
5:181124768:G:C	F179L	0.847
5:181124768:G:T	F179L	0.847
5:181124770:A:G	F179L	0.847
5:181124549:G:C	F252L	0.837
5:181124549:G:T	F252L	0.837
5:181124551:A:G	F252L	0.837
5:181124766:C:G	C180S	0.835
5:181124767:A:T	C180S	0.835
5:181125047:G:C	F86L	0.826
5:181125047:G:T	F86L	0.826
5:181125049:A:G	F86L	0.826
5:181125218:G:C	F29L	0.826
5:181125218:G:T	F29L	0.826
5:181125220:A:G	F29L	0.826
5:181124429:G:C	S292R	0.820
5:181124429:G:T	S292R	0.820
5:181124431:T:G	S292R	0.820
5:181125012:C:G	C98S	0.819

dbSNP variants (sampled 300 via entrez): RS1000278002 (5:181128879 C>T), RS1000934816 (5:181123032 G>A), RS1001500839 (5:181127899 A>G), RS1001581382 (5:181132353 G>A), RS1001951581 (5:181129639 C>T), RS1002098751 (5:181126865 C>T), RS1002610785 (5:181131969 A>G), RS1002879251 (5:181125990 A>T), RS1002997972 (5:181131055 C>A,T), RS1003096513 (5:181125805 G>C), RS1003161303 (5:181131738 T>C), RS10035767 (5:181124775 T>C), RS1003608021 (5:181128952 G>A), RS1003883933 (5:181124732 T>G), RS1004828442 (5:181122632 G>A)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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