OR2F1

Summary

OR2F1 (olfactory receptor family 2 subfamily F member 1, HGNC:8246) is a protein-coding gene on chromosome 7q35, encoding Olfactory receptor 2F1 (Q13607). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 26211 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_012369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8246
Approved symbol	OR2F1
Name	olfactory receptor family 2 subfamily F member 1
Location	7q35
Locus type	gene with protein product
Status	Approved
Aliases	OLF3, OR7-140, OR7-139, OR14-60
Ensembl gene	ENSG00000213215
Ensembl biotype	protein_coding
OMIM	608497
Entrez	26211

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000470988, ENST00000624504, ENST00000641412, ENST00000641986

RefSeq mRNA: 1 — MANE Select: NM_012369 NM_012369

Canonical transcript exons

ENST00000641412 — 3 exons

Exon	Start	End
ENSE00001838821	143954844	143955103
ENSE00001894064	143958953	143959108
ENSE00003811605	143959948	143964360

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 67.18.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibial artery	UBERON:0007610	67.18	gold quality
popliteal artery	UBERON:0002250	67.17	gold quality
apex of heart	UBERON:0002098	63.75	gold quality
smooth muscle tissue	UBERON:0001135	62.68	gold quality
sural nerve	UBERON:0015488	60.27	gold quality
placenta	UBERON:0001987	59.06	gold quality
anterior cingulate cortex	UBERON:0009835	57.28	gold quality
ascending aorta	UBERON:0001496	56.26	gold quality
thoracic aorta	UBERON:0001515	55.99	gold quality
descending thoracic aorta	UBERON:0002345	54.02	gold quality
vermiform appendix	UBERON:0001154	53.25	gold quality
right coronary artery	UBERON:0001625	52.19	gold quality
fundus of stomach	UBERON:0001160	51.97	gold quality
substantia nigra	UBERON:0002038	51.85	gold quality
muscle layer of sigmoid colon	UBERON:0035805	51.81	gold quality
Ammon’s horn	UBERON:0001954	51.46	gold quality
temporal lobe	UBERON:0001871	51.45	gold quality
body of uterus	UBERON:0009853	51.37	gold quality
amygdala	UBERON:0001876	51.35	gold quality
right frontal lobe	UBERON:0002810	51.21	gold quality
adrenal tissue	UBERON:0018303	51.21	gold quality
lower esophagus mucosa	UBERON:0035834	50.94	gold quality
left uterine tube	UBERON:0001303	50.51	gold quality
granulocyte	CL:0000094	50.37	silver quality
right testis	UBERON:0004534	49.56	gold quality
testis	UBERON:0000473	49.53	gold quality
hypothalamus	UBERON:0001898	49.26	gold quality
lower esophagus	UBERON:0013473	49.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.05	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	48.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.06

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2f1	ENSMUSG00000095831
rattus_norvegicus	Or2f1	ENSRNOG00000077246

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 2F1 — Q13607 (reviewed: Q13607)

Alternative names: Olfactory receptor 2F3, Olfactory receptor 2F4, Olfactory receptor 2F5, Olfactory receptor-like protein OLF3

All UniProt accessions (2): A0A126GV98, Q13607

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_036501* (*=MANE)

Domains & families (InterPro)

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

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-Q13607-F1	88.32	0.59

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: 49 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, MODULE_289, BACH2_01, TGANTCA_AP1_C, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chr7q35, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MIKKELSEN_IPS_HCP_WITH_H3_UNMETHYLATED, MODULE_375, GREGORY_SYNTHETIC_LETHAL_WITH_IMATINIB

GO Biological Process (4): signal transduction (GO:0007165), detection of chemical stimulus involved in sensory perception of smell (GO:0050911), 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
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	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

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2F1	GNAS	Q5JWF2	548
OR2F1	TMTC1	Q8IUR5	446
OR2F1	KATNBL1	Q9H079	445
OR2F1	CREB1	P16220	430
OR2F1	TMEM243	Q9BU79	406
OR2F1	MFSD1	Q9H3U5	399
OR2F1	TCAF1	Q9Y4C2	396
OR2F1	TAS2R16	Q9NYV7	370
OR2F1	GPR173	Q9NS66	349
OR2F1	NTN3	O00634	336
OR2F1	SLC9B1	Q4ZJI4	316
OR2F1	COXFA4L3	Q9C002	305
OR2F1	IGSF6	O95976	300
OR2F1	ANKRD22	Q5VYY1	290
OR2F1	CDK5RAP3	Q96JB5	284

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

195 predictions. Top by Δscore:

Variant	Effect	Δscore
7:143960624:C:G	acceptor_gain	0.8300
7:143960623:A:AG	acceptor_gain	0.8100
7:143960625:A:AG	acceptor_gain	0.7900
7:143960146:T:G	donor_gain	0.7700
7:143960629:A:AG	acceptor_gain	0.7200
7:143960630:G:GG	acceptor_gain	0.7200
7:143960626:T:G	acceptor_gain	0.7000
7:143960626:TCCA:T	acceptor_loss	0.7000
7:143960629:A:AC	acceptor_loss	0.7000
7:143960630:G:C	acceptor_loss	0.7000
7:143960617:T:TA	acceptor_gain	0.6900
7:143960630:GATC:G	acceptor_gain	0.6900
7:143959995:G:GG	donor_gain	0.6700
7:143960608:T:TA	acceptor_gain	0.6700
7:143959991:TTGGG:T	donor_loss	0.6500
7:143959993:GG:G	donor_gain	0.6500
7:143959994:GG:G	donor_gain	0.6500
7:143959994:GGT:G	donor_loss	0.6500
7:143959995:G:GC	donor_loss	0.6500
7:143959996:T:G	donor_loss	0.6500
7:143959997:G:GG	donor_loss	0.6500
7:143960617:T:A	acceptor_loss	0.6500
7:143959998:AGTG:A	donor_loss	0.6300
7:143959999:G:C	donor_loss	0.6100
7:143960630:GAT:G	acceptor_gain	0.6000
7:143960630:GA:G	acceptor_gain	0.5800
7:143960317:C:CA	acceptor_gain	0.5300
7:143960573:GTCT:G	donor_gain	0.5200
7:143959990:CTTGG:C	donor_gain	0.5000
7:143960420:C:A	donor_gain	0.5000

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:143960004:T:C	F12L	0.928
7:143960006:T:A	F12L	0.928
7:143960006:T:G	F12L	0.928
7:143960196:A:C	S76R	0.916
7:143960198:T:A	S76R	0.916
7:143960198:T:G	S76R	0.916
7:143960304:T:C	F112L	0.909
7:143960306:T:A	F112L	0.909
7:143960306:T:G	F112L	0.909
7:143960577:A:C	S203R	0.891
7:143960579:C:A	S203R	0.891
7:143960579:C:G	S203R	0.891
7:143960096:C:A	N42K	0.890
7:143960096:C:G	N42K	0.890
7:143960841:A:C	S291R	0.866
7:143960843:C:A	S291R	0.866
7:143960843:C:G	S291R	0.866
7:143960005:T:C	F12S	0.856
7:143960509:A:T	E180V	0.849
7:143960052:T:C	F28L	0.844
7:143960054:T:A	F28L	0.844
7:143960054:T:G	F28L	0.844
7:143960324:G:A	M118I	0.840
7:143960324:G:C	M118I	0.840
7:143960324:G:T	M118I	0.840
7:143960505:T:A	C179S	0.839
7:143960506:G:C	C179S	0.839
7:143960500:T:A	I177K	0.822
7:143960194:C:A	T75K	0.812
7:143960424:G:C	G152R	0.805

dbSNP variants (sampled 300 via entrez): RS1000283531 (7:143963561 C>A,T), RS1000619316 (7:143962262 A>G), RS1000691504 (7:143962654 A>G), RS1000763719 (7:143953598 T>C), RS1000831214 (7:143954655 C>T), RS1001332388 (7:143959275 C>T), RS1001444859 (7:143959006 C>G,T), RS1001575123 (7:143964402 A>G), RS1001885535 (7:143963977 C>T), RS1002702613 (7:143957969 T>C), RS1003918459 (7:143958461 T>C), RS1004005034 (7:143964423 C>G), RS1004036340 (7:143964036 T>A,C), RS1004065236 (7:143953868 G>T), RS1004581623 (7:143958979 G>A)

Disease associations

OMIM: gene MIM:608497 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010136_23	Fruit consumption	5.000000e-08
GCST010136_24	Fruit consumption	1.000000e-48

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet 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
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Copper	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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