OR4P4

Summary

OR4P4 (olfactory receptor family 4 subfamily P member 4, HGNC:15180) is a protein-coding gene on chromosome 11q11, encoding Olfactory receptor 4P4 (Q8NGL7). 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 81300 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_001405919

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15180
Approved symbol	OR4P4
Name	olfactory receptor family 4 subfamily P member 4
Location	11q11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181927
Ensembl biotype	protein_coding
Entrez	81300

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641760

RefSeq mRNA: 2 — MANE Select: NM_001405919 NM_001004124, NM_001405919

CCDS: CCDS31504

Canonical transcript exons

ENST00000641760 — 2 exons

Exon	Start	End
ENSE00003811860	55635113	55635216
ENSE00003812558	55638328	55640309

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 40.46.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	40.46	silver quality
cortical plate	UBERON:0005343	40.09	gold quality
sural nerve	UBERON:0015488	38.22	gold quality
bone marrow cell	CL:0002092	38.20	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.55	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	33.92	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
mucosa of stomach	UBERON:0001199	32.30	gold quality
liver	UBERON:0002107	31.80	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
corpus callosum	UBERON:0002336	29.65	gold quality
prefrontal cortex	UBERON:0000451	29.51	gold quality
lymph node	UBERON:0000029	28.93	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.61	gold quality
right lobe of liver	UBERON:0001114	27.52	gold quality
blood	UBERON:0000178	27.51	gold quality
primary visual cortex	UBERON:0002436	27.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.37	gold quality
tonsil	UBERON:0002372	27.05	gold quality
adrenal tissue	UBERON:0018303	27.04	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.39	gold quality
kidney	UBERON:0002113	26.33	gold quality
muscle of leg	UBERON:0001383	26.08	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4p4	ENSMUSG00000111590
rattus_norvegicus	Or4p4	ENSRNOG00000059965

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 4P4 — Q8NGL7 (reviewed: Q8NGL7)

Alternative names: Olfactory receptor 4P3

All UniProt accessions (1): Q8NGL7

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 (2): NP_001004124, NP_001392848* (*=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 (19 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGL7-F1	91.45	0.81

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): 95–187

Glycosylation sites (2): 5, 6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, CAMPS_COLON_CANCER_COPY_NUMBER_DN, 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, chr11q11, HBZ_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4P4	ZNF280C	Q8ND82	398
OR4P4	HEATR4	Q86WZ0	398
OR4P4	NPY4R2	P0DQD5	377
OR4P4	ZFP14	Q9HCL3	375
OR4P4	NEGR1	Q7Z3B1	369
OR4P4	TRIM48	Q8IWZ4	366
OR4P4	TRIM51	Q9BSJ1	348
OR4P4	SLC25A43	Q8WUT9	321
OR4P4	TMTC3	Q6ZXV5	321
OR4P4	TMEM255A	Q5JRV8	314
OR4P4	DHRSX	Q8N5I4	314
OR4P4	UGT2B17	O75795	312
OR4P4	PUDP	Q08623	307
OR4P4	GPRC5B	Q9NZH0	304
OR4P4	ANKRD36	A6QL64	302

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60878, Q60881, Q6IEV9, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGD0, Q8NGD1, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGL6, Q8NGL7, Q8NGL9, Q8NGM1, Q8NGM8, Q8NGN0, Q8NGN8, Q8NGP0, Q8NH05, Q8NH37, Q8NH42

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

193 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55639210:T:G	acceptor_gain	0.6600
11:55638369:C:T	donor_gain	0.6500
11:55639013:T:G	acceptor_gain	0.6500
11:55639208:T:G	acceptor_gain	0.6300
11:55639020:T:G	acceptor_gain	0.6100
11:55639107:A:AG	acceptor_gain	0.6100
11:55639214:C:G	acceptor_gain	0.6100
11:55638368:GCAA:G	donor_gain	0.6000
11:55639113:A:AG	acceptor_gain	0.6000
11:55639193:T:G	acceptor_gain	0.6000
11:55639213:AC:A	acceptor_gain	0.6000
11:55639213:ACGCT:A	acceptor_gain	0.5900
11:55638410:A:AG	donor_gain	0.5800
11:55638361:G:GT	donor_gain	0.5700
11:55638371:A:AG	donor_gain	0.5700
11:55639108:C:G	acceptor_gain	0.5700
11:55639185:T:A	acceptor_gain	0.5700
11:55639213:A:AG	acceptor_gain	0.5700
11:55639214:C:CA	acceptor_gain	0.5700
11:55638368:G:GG	donor_gain	0.5600
11:55639214:CGCTG:C	acceptor_gain	0.5600
11:55638367:A:AG	donor_gain	0.5500
11:55639107:ACCT:A	acceptor_gain	0.5500
11:55639199:A:G	acceptor_gain	0.5500
11:55638371:A:G	donor_gain	0.5400
11:55638432:C:G	donor_gain	0.5400
11:55639113:ATT:A	acceptor_gain	0.5400
11:55639211:A:AG	acceptor_gain	0.5400
11:55639212:C:G	acceptor_gain	0.5400
11:55638410:A:G	donor_gain	0.5300

AlphaMissense

2082 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55638823:A:C	S156R	0.898
11:55638825:T:A	S156R	0.898
11:55638825:T:G	S156R	0.898
11:55638853:T:C	F166L	0.884
11:55638855:T:A	F166L	0.884
11:55638855:T:G	F166L	0.884
11:55638793:T:C	C146R	0.869
11:55638883:T:C	F176L	0.862
11:55638885:C:A	F176L	0.862
11:55638885:C:G	F176L	0.862
11:55639102:T:C	F249L	0.851
11:55639104:T:A	F249L	0.851
11:55639104:T:G	F249L	0.851
11:55638565:T:C	C70R	0.849
11:55638716:G:C	R120P	0.830
11:55638655:T:C	F100L	0.829
11:55638657:T:A	F100L	0.829
11:55638657:T:G	F100L	0.829
11:55638451:T:C	C32R	0.824
11:55638653:T:C	L99P	0.822
11:55638385:T:C	F10L	0.808
11:55638387:T:A	F10L	0.808
11:55638387:T:G	F10L	0.808
11:55638886:T:A	C177S	0.801
11:55638887:G:C	C177S	0.801
11:55639099:T:C	F248L	0.801
11:55639101:T:A	F248L	0.801
11:55639101:T:G	F248L	0.801
11:55638642:T:G	C95W	0.798
11:55639158:A:C	K267N	0.786

dbSNP variants (sampled 300 via entrez): RS1002857842 (11:55639584 G>C,T), RS1002931579 (11:55638671 T>C), RS1006452240 (11:55639417 G>T), RS1010634076 (11:55636582 G>A), RS1013010976 (11:55639624 A>G), RS1014966097 (11:55637854 C>A,T), RS1019037311 (11:55637591 A>G), RS1021264318 (11:55638087 C>T), RS1028970086 (11:55636767 C>A,G), RS1030857773 (11:55639731 G>A), RS1035735102 (11:55639599 G>A,C,T), RS1036631623 (11:55639483 G>A,T), RS1043366664 (11:55638143 T>C), RS1043398232 (11:55637514 T>C), RS1050996106 (11:55639347 C>T)

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
GCST005580_35	Intraocular pressure	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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