OR4A47

Summary

OR4A47 (olfactory receptor family 4 subfamily A member 47, HGNC:31266) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4A47 (Q6IF82). Odorant receptor. It is a selective cancer dependency (DepMap: 43.4% of cell lines).

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 403253 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 84 total
• Cancer dependency (DepMap): dependent in 43.4% of screened cell lines
• MANE Select transcript: NM_001005512

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31266
Approved symbol	OR4A47
Name	olfactory receptor family 4 subfamily A member 47
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237388
Ensembl biotype	protein_coding
Entrez	403253

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000446524

RefSeq mRNA: 1 — MANE Select: NM_001005512 NM_001005512

CCDS: CCDS31490

Canonical transcript exons

ENST00000446524 — 1 exons

Exon	Start	End
ENSE00004001353	48488793	48489722

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 53.98.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	53.98	gold quality
colonic epithelium	UBERON:0000397	41.95	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	33.38	gold quality
bone marrow	UBERON:0002371	32.99	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right uterine tube	UBERON:0001302	30.66	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.83	silver quality
prefrontal cortex	UBERON:0000451	29.80	gold quality
liver	UBERON:0002107	28.67	gold quality
monocyte	CL:0000576	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.74	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
cortex of kidney	UBERON:0001225	25.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
calcaneal tendon	UBERON:0003701	25.46	gold quality
muscle of leg	UBERON:0001383	25.39	gold quality
frontal cortex	UBERON:0001870	24.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 43.4% of screened cell lines.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4a47	ENSMUSG00000075073
rattus_norvegicus	Or4a47	ENSRNOG00000080289

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 4A47 — Q6IF82 (reviewed: Q6IF82)

Alternative names: Olfactory receptor OR11-113

All UniProt accessions (1): Q6IF82

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_001005512* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 4, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IF82-F1	91.83	0.77

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): 6, 87

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, 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, GLI1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4A47	TRIM51G	A0A3B3IT33	697
OR4A47	TRIM49B	A6NDI0	529
OR4A47	EFCAB6	Q5THR3	367
OR4A47	GAREM1	Q9H706	356
OR4A47	PGLS	O95336	337
OR4A47	SYT14	Q8NB59	323
OR4A47	EXD3	Q8N9H8	299
OR4A47	RPIA	P49247	297
OR4A47	ECI2	O75521	295
OR4A47	PPFIA2	O75334	285
OR4A47	RSPH6A	Q9H0K4	275
OR4A47	MMAB	Q96EY8	270
OR4A47	PTGES2	Q9H7Z7	259
OR4A47	GALNT18	Q6P9A2	250
OR4A47	PTPMT1	Q8WUK0	244
OR4A47	FAM131A	Q6UXB0	244

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

129 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48488859:A:T	donor_gain	0.8900
11:48488858:GAAA:G	donor_gain	0.8400
11:48488862:G:GG	donor_gain	0.7900
11:48488804:G:GT	donor_gain	0.7400
11:48488853:G:GT	donor_gain	0.7100
11:48488872:T:G	donor_gain	0.6800
11:48489556:T:G	acceptor_gain	0.6800
11:48489440:T:TA	acceptor_gain	0.6700
11:48488815:C:G	donor_gain	0.6500
11:48488854:A:T	donor_gain	0.6200
11:48488940:A:AG	donor_gain	0.6200
11:48488941:G:GG	donor_gain	0.6200
11:48488805:A:T	donor_gain	0.5900
11:48488935:C:G	donor_gain	0.5800
11:48488945:G:GT	donor_gain	0.5800
11:48488861:A:AG	donor_gain	0.5600
11:48488810:T:G	donor_gain	0.5500
11:48488852:G:GT	donor_gain	0.5400
11:48489560:T:G	acceptor_gain	0.5400
11:48489481:G:GT	donor_gain	0.5300
11:48489482:G:T	donor_gain	0.5300
11:48489560:T:TA	acceptor_gain	0.5000
11:48489653:G:GC	acceptor_gain	0.5000
11:48489564:A:AG	acceptor_gain	0.4800
11:48489565:G:GG	acceptor_gain	0.4800
11:48488814:A:AG	donor_gain	0.4700
11:48488865:C:CG	donor_gain	0.4700
11:48488866:T:G	donor_gain	0.4700
11:48489328:T:G	acceptor_gain	0.4700
11:48489559:AT:A	acceptor_gain	0.4700

AlphaMissense

2028 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48489288:T:C	F166L	0.836
11:48489290:C:A	F166L	0.836
11:48489290:C:G	F166L	0.836
11:48488820:T:C	F10L	0.780
11:48488822:T:A	F10L	0.780
11:48488822:T:G	F10L	0.780
11:48489315:T:C	F175L	0.702
11:48489317:T:A	F175L	0.702
11:48489317:T:G	F175L	0.702
11:48489537:T:C	F249L	0.670
11:48489539:T:A	F249L	0.670
11:48489539:T:G	F249L	0.670
11:48489600:A:C	S270R	0.665
11:48489602:T:A	S270R	0.665
11:48489602:T:G	S270R	0.665
11:48488877:T:C	F29L	0.627
11:48488879:C:A	F29L	0.627
11:48488879:C:G	F29L	0.627
11:48489417:T:C	F209L	0.617
11:48489419:T:A	F209L	0.617
11:48489419:T:G	F209L	0.617
11:48489552:T:C	F254L	0.582
11:48489554:T:A	F254L	0.582
11:48489554:T:G	F254L	0.582
11:48489066:T:C	F92L	0.575
11:48489068:C:A	F92L	0.575
11:48489068:C:G	F92L	0.575
11:48489606:T:C	F272L	0.566
11:48489608:T:A	F272L	0.566
11:48489608:T:G	F272L	0.566

dbSNP variants (sampled 300 via entrez): RS1000154452 (11:48487672 T>A), RS1000834987 (11:48486816 C>A), RS1002420171 (11:48490142 G>T), RS1002966712 (11:48489081 G>A), RS1005631811 (11:48488282 G>T), RS1006621462 (11:48487164 A>C,T), RS1007084961 (11:48487416 A>G), RS1014289397 (11:48487024 T>A,G), RS1014914136 (11:48490180 G>T), RS1016970464 (11:48488136 G>C), RS1018021034 (11:48487425 A>G), RS1018385821 (11:48487170 A>G), RS1019991329 (11:48487650 A>G), RS1022161124 (11:48489894 A>C), RS1022528024 (11:48489723 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002115_1	Axial length	4.000000e-06
GCST005580_16	Intraocular pressure	2.000000e-14
GCST005580_25	Intraocular pressure	4.000000e-14
GCST005580_3	Intraocular pressure	1.000000e-15
GCST007094_236	Diastolic blood pressure	3.000000e-06
GCST007095_88	Systolic blood pressure	2.000000e-07
GCST007095_89	Systolic blood pressure	3.000000e-07
GCST007099_195	Systolic blood pressure	4.000000e-09
GCST008403_25	Arterial stiffness index	2.000000e-07
GCST010244_132	Triglyceride levels	2.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004695	intraocular pressure measurement
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0004517	arterial stiffness measurement
EFO:0004530	triglyceride 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
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
CGP 52608	affects binding, increases reaction	1
Air Pollutants	increases expression	1
Rifampin	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder