OR4F4

Summary

OR4F4 (olfactory receptor family 4 subfamily F member 4, HGNC:8301) is a protein-coding gene on chromosome 15q26.3, encoding Olfactory receptor 4F4 (Q96R69). 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 26682 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 29 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8301
Approved symbol	OR4F4
Name	olfactory receptor family 4 subfamily F member 4
Location	15q26.3
Locus type	gene with protein product
Status	Approved
Aliases	OR4F18
Ensembl gene	ENSG00000177693
Ensembl biotype	protein_coding
Entrez	26682

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000650172

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000650172 — 1 exons

Exon	Start	End
ENSE00003832019	101922042	101923113

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 61.50.

Top tissues by expression

111 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	61.50	gold quality
colonic epithelium	UBERON:0000397	41.77	gold quality
granulocyte	CL:0000094	37.29	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	34.98	gold quality
muscle tissue	UBERON:0002385	32.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
endocervix	UBERON:0000458	31.36	gold quality
uterine cervix	UBERON:0000002	30.97	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
ectocervix	UBERON:0012249	29.35	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
leukocyte	CL:0000738	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.97	gold quality
lymph node	UBERON:0000029	27.57	gold quality
primary visual cortex	UBERON:0002436	27.30	gold quality
left adrenal gland cortex	UBERON:0035825	27.23	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
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
cortex of kidney	UBERON:0001225	25.75	gold quality
fundus of stomach	UBERON:0001160	25.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4f4b	ENSMUSG00000061195
mus_musculus	Or4f4-ps1	ENSMUSG00000108891
mus_musculus	Or4f17	ENSMUSG00000108908
rattus_norvegicus	Or4f4b	ENSRNOG00000079002
rattus_norvegicus		ENSRNOG00000080423
rattus_norvegicus		ENSRNOG00000086124

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 4F4 — Q96R69 (reviewed: Q96R69)

Alternative names: HS14a-1-A, Olfactory receptor OR19-3

All UniProt accessions (1): A0A3B3ITA0

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 (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

UniProt features (17 total): topological domain 8, transmembrane region 7, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96R69-F1	90.92	0.70

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): 90–182

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, chr15q26, 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, PULVER_FOREY_PERTURB_ATTRITION_LG1, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

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
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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	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

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4F4	TAS2R13	Q9NYV9	577
OR4F4	TAS2R5	Q9NYW4	548
OR4F4	TAS2R50	P59544	541
OR4F4	VN1R4	Q7Z5H5	513
OR4F4	TAS2R10	Q9NYW0	505
OR4F4	VN1R2	Q8NFZ6	481
OR4F4	TAS2R14	Q9NYV8	480
OR4F4	TMEM179	Q6ZVK1	447
OR4F4	C14orf180	Q8N912	446
OR4F4	VN1R1	Q9GZP7	419
OR4F4	TAS2R4	Q9NYW5	411
OR4F4	TM2D3	Q9BRN9	370
OR4F4	TAS2R31	P59538	365
OR4F4	FRG2	Q64ET8	356
OR4F4	TAS2R1	Q9NYW7	350

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

288 predictions. Top by Δscore:

Variant	Effect	Δscore
15:101922933:C:CT	donor_gain	0.8400
15:101922344:A:AC	donor_gain	0.7200
15:101922345:C:CC	donor_gain	0.7200
15:101922438:T:TC	acceptor_gain	0.7100
15:101922933:CCA:C	donor_gain	0.7000
15:101922976:A:C	acceptor_gain	0.6900
15:101922855:C:CC	acceptor_gain	0.6800
15:101922854:ACTG:A	acceptor_gain	0.6500
15:101922972:CTCCA:C	acceptor_gain	0.6500
15:101922973:TCCAT:T	acceptor_gain	0.6500
15:101923016:T:TA	donor_gain	0.6500
15:101922853:GACT:G	acceptor_gain	0.6400
15:101922425:G:GC	acceptor_gain	0.6200
15:101922934:C:CT	donor_gain	0.6200
15:101922855:C:A	acceptor_gain	0.6100
15:101922974:C:G	acceptor_gain	0.6100
15:101922851:GTGAC:G	acceptor_gain	0.5900
15:101922852:TGACT:T	acceptor_gain	0.5900
15:101922970:T:A	donor_gain	0.5900
15:101922840:T:C	donor_gain	0.5700
15:101923075:A:AC	donor_gain	0.5700
15:101923076:C:CC	donor_gain	0.5700
15:101922149:TTTA:T	donor_gain	0.5600
15:101922150:TTAC:T	donor_gain	0.5600
15:101922250:C:CT	acceptor_gain	0.5600
15:101923052:GTCA:G	donor_loss	0.5600
15:101923053:TCA:T	donor_loss	0.5600
15:101923054:CACCA:C	donor_loss	0.5600
15:101923056:C:A	donor_loss	0.5600
15:101922998:A:C	donor_gain	0.5500

AlphaMissense

2139 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:101923045:G:C	F5L	0.968
15:101923045:G:T	F5L	0.968
15:101923047:A:G	F5L	0.968
15:101922577:G:C	F161L	0.960
15:101922577:G:T	F161L	0.960
15:101922579:A:G	F161L	0.960
15:101922553:A:C	S169R	0.955
15:101922553:A:T	S169R	0.955
15:101922555:T:G	S169R	0.955
15:101922550:A:C	F170L	0.949
15:101922550:A:T	F170L	0.949
15:101922552:A:G	F170L	0.949
15:101923046:A:G	F5S	0.949
15:101922328:A:C	F244L	0.944
15:101922328:A:T	F244L	0.944
15:101922330:A:G	F244L	0.944
15:101922607:G:C	S151R	0.933
15:101922607:G:T	S151R	0.933
15:101922609:T:G	S151R	0.933
15:101922472:A:C	S196R	0.928
15:101922472:A:T	S196R	0.928
15:101922474:T:G	S196R	0.928
15:101923046:A:C	F5C	0.924
15:101922578:A:C	F161C	0.919
15:101922331:G:C	F243L	0.911
15:101922331:G:T	F243L	0.911
15:101922333:A:G	F243L	0.911
15:101922545:C:G	C172S	0.907
15:101922546:A:T	C172S	0.907
15:101922578:A:G	F161S	0.907

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)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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