OR4N4

Summary

OR4N4 (olfactory receptor family 4 subfamily N member 4, HGNC:15375) is a protein-coding gene on chromosome 15q11.2, encoding Olfactory receptor 4N4 (Q8N0Y3). 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 283694 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total — 3 pathogenic
• MANE Select transcript: NM_001005241

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15375
Approved symbol	OR4N4
Name	olfactory receptor family 4 subfamily N member 4
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183706
Ensembl biotype	protein_coding
Entrez	283694

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000328795

RefSeq mRNA: 1 — MANE Select: NM_001005241 NM_001005241

CCDS: CCDS32173

Canonical transcript exons

ENST00000328795 — 1 exons

Exon	Start	End
ENSE00003978177	22094522	22095862

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 85.44.

Top tissues by expression

122 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	85.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.37	gold quality
left testis	UBERON:0004533	53.25	gold quality
right testis	UBERON:0004534	52.28	gold quality
testis	UBERON:0000473	51.95	gold quality
apex of heart	UBERON:0002098	37.78	silver 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
hindlimb stylopod muscle	UBERON:0004252	36.25	silver 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
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right uterine tube	UBERON:0001302	30.87	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.47	gold quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
urinary bladder	UBERON:0001255	26.80	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
leukocyte	CL:0000738	25.41	gold quality
right lobe of liver	UBERON:0001114	25.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting OR4N4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-193B-5P	97.91	65.88	837
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-342-3P	96.44	67.48	1344
HSA-MIR-550B-3P	95.43	67.73	599

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4n4b	ENSMUSG00000090874
mus_musculus	Or4n4	ENSMUSG00000091873
rattus_norvegicus	Or4n4	ENSRNOG00000047419
rattus_norvegicus	Or4n4	ENSRNOG00000077425

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 4N4 — Q8N0Y3 (reviewed: Q8N0Y3)

Alternative names: Olfactory receptor OR15-1, Olfactory receptor OR15-5

All UniProt accessions (2): A0A126GVN2, Q8N0Y3

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_001005241* (*=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 (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0Y3-F1	86.38	0.40

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

1 pathways

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

MSigDB gene sets: 19 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, chr15q11, 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, MIR582_5P, 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

182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4N4	USP17L17	D6RBQ6	543
OR4N4	KRTAP19-8	Q3LI54	511
OR4N4	GOLGA8CP	A6NN73	507
OR4N4	VN1R4	Q7Z5H5	475
OR4N4	KRTAP5-10	Q6L8G5	446
OR4N4	GOLGA6L6	A8MZA4	445
OR4N4	GOLGA6L1	Q8N7Z2	435
OR4N4	KRTAP5-7	Q6L8G8	400
OR4N4	IGHV3-72	A0A0B4J1Y9	397
OR4N4	FAM89B	Q8N5H3	392
OR4N4	CIMAP1D	Q3SX64	390
OR4N4	RNF148	Q8N7C7	378
OR4N4	RNF133	Q8WVZ7	378
OR4N4	ZNF845	Q96IR2	371
OR4N4	TRIM58	Q8NG06	369

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4N4 (Affinity Capture-MS)

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

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

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

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
58531	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3	Pathogenic
929824	GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1	Pathogenic
997814	Single allele	Pathogenic

SpliceAI

270 predictions. Top by Δscore:

Variant	Effect	Δscore
15:22095217:G:T	donor_gain	0.9900
15:22095349:A:AG	acceptor_gain	0.8800
15:22095350:G:GG	acceptor_gain	0.8800
15:22095028:T:TA	acceptor_gain	0.8500
15:22095347:ACAGT:A	acceptor_gain	0.8400
15:22095217:G:GT	donor_gain	0.8300
15:22095349:AGT:A	acceptor_gain	0.7900
15:22095350:GTG:G	acceptor_gain	0.7900
15:22095350:GT:G	acceptor_gain	0.7800
15:22094544:T:TA	donor_gain	0.7600
15:22094545:A:AA	donor_gain	0.7600
15:22095346:C:G	acceptor_gain	0.7300
15:22095348:C:G	acceptor_gain	0.7000
15:22094586:A:G	donor_gain	0.6900
15:22095350:GTGAT:G	acceptor_gain	0.6700
15:22095233:TCC:T	donor_gain	0.6500
15:22095237:C:G	donor_gain	0.6400
15:22095255:T:G	donor_gain	0.6400
15:22095253:C:A	donor_gain	0.6100
15:22095345:A:AG	acceptor_gain	0.6100
15:22095193:T:G	donor_gain	0.5900
15:22095216:G:GT	donor_gain	0.5800
15:22095267:T:TG	donor_gain	0.5400
15:22094673:C:A	donor_gain	0.5300
15:22095029:G:A	acceptor_gain	0.5200
15:22095194:GTTC:G	donor_gain	0.5200
15:22095346:CACAG:C	acceptor_loss	0.5200
15:22095347:ACAG:A	acceptor_loss	0.5200
15:22095348:CAGT:C	acceptor_loss	0.5200
15:22095349:A:AT	acceptor_loss	0.5200

AlphaMissense

2086 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:22094555:T:C	F12L	0.856
15:22094557:T:A	F12L	0.856
15:22094557:T:G	F12L	0.856
15:22095023:T:C	F168L	0.840
15:22095025:T:A	F168L	0.840
15:22095025:T:G	F168L	0.840
15:22095272:T:C	F251L	0.780
15:22095274:T:A	F251L	0.780
15:22095274:T:G	F251L	0.780
15:22095050:T:C	F177L	0.763
15:22095052:C:A	F177L	0.763
15:22095052:C:G	F177L	0.763
15:22094603:T:C	F28L	0.741
15:22094605:T:A	F28L	0.741
15:22094605:T:G	F28L	0.741
15:22094825:T:C	F102L	0.716
15:22094827:T:A	F102L	0.716
15:22094827:T:G	F102L	0.716
15:22095305:T:C	F262L	0.715
15:22095307:C:A	F262L	0.715
15:22095307:C:G	F262L	0.715
15:22095053:T:C	F178L	0.705
15:22095055:C:A	F178L	0.705
15:22095055:C:G	F178L	0.705
15:22095152:T:C	F211L	0.663
15:22095154:T:A	F211L	0.663
15:22095154:T:G	F211L	0.663
15:22094556:T:C	F12S	0.652
15:22095356:T:C	F279L	0.649
15:22095358:T:A	F279L	0.649

dbSNP variants (sampled 300 via entrez): RS1003225305 (15:22094491 C>T), RS1011374126 (15:22095687 T>C), RS1019598766 (15:22095751 A>G), RS1032226634 (15:22095103 G>A,T), RS1040389420 (15:22094912 C>A,T), RS1041983302 (15:22093239 T>A), RS111231176 (15:22094656 T>C), RS111400489 (15:22094601 T>A,C), RS111412129 (15:22094916 G>A,C), RS111557987 (15:22095865 A>G), RS111559452 (15:22094677 C>T), RS111794823 (15:22094909 C>T), RS112081824 (15:22095298 G>A), RS112121284 (15:22095452 G>A), RS112137449 (15:22096326 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cobaltous chloride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Silicon Dioxide	decreases expression	1
Theophylline	increases expression	1
Valproic Acid	decreases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders