OR8J1

Summary

OR8J1 (olfactory receptor family 8 subfamily J member 1, HGNC:14855) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8J1 (Q8NGP2). 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 219477 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_001005205

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14855
Approved symbol	OR8J1
Name	olfactory receptor family 8 subfamily J member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172487
Ensembl biotype	protein_coding
Entrez	219477

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000303039, ENST00000533152, ENST00000641406

RefSeq mRNA: 1 — MANE Select: NM_001005205 NM_001005205

CCDS: CCDS31529

Canonical transcript exons

ENST00000533152 — 2 exons

Exon	Start	End
ENSE00002143674	56360227	56361511
ENSE00003813223	56354291	56354325

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 46.91.

Top tissues by expression

125 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	46.91	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
bone marrow cell	CL:0002092	36.16	gold quality
sural nerve	UBERON:0015488	36.05	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.51	silver quality
leukocyte	CL:0000738	28.43	silver quality
liver	UBERON:0002107	28.32	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.87	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.29	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
muscle of leg	UBERON:0001383	24.99	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	24.46	gold quality
pancreas	UBERON:0001264	24.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.83

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8j3	ENSMUSG00000075198
rattus_norvegicus	Or8j3	ENSRNOG00000066809

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8J1 — Q8NGP2 (reviewed: Q8NGP2)

Alternative names: Olfactory receptor OR11-183

All UniProt accessions (1): Q8NGP2

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_001005205* (*=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 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGP2-F1	89.15	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): 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: 16 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11q12

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

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8J1	LCE1F	Q5T754	580
OR8J1	ARHGEF33	A8MVX0	521
OR8J1	ANTXR1	Q9H6X2	470
OR8J1	ARHGAP26	Q9UNA1	435
OR8J1	CNTN6	Q9UQ52	390
OR8J1	ARHGEF5	Q12774	378
OR8J1	CSMD3	Q7Z407	368
OR8J1	ARHGEF40	Q8TER5	348
OR8J1	NUPR1	O60356	333
OR8J1	PYGB	P11216	331
OR8J1	CLDN18	P56856	326
OR8J1	BCAS1	O75363	321
OR8J1	ARHGAP5	Q13017	310
OR8J1	DLX4	Q92988	297
OR8J1	SLC5A1	P13866	289

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6ND48, B2RN74, O60412, O76099, O76100, O95047, P23271, P23272, P34982, P37069, P37072, P47884, P47890, P58170, Q15622, Q60879, Q8NG84, Q8NG94, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA2, Q8NGE0, Q8NGG1, Q8NGL0, Q8NGP2, Q8NGS2, Q8NGW1, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07, Q8NH80, Q8NHA4, Q8NHC7, Q8VEY3, Q8VFC9, Q8WZA6

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

210 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56361084:ACGTT:A	acceptor_gain	0.8300
11:56361085:C:G	acceptor_gain	0.7900
11:56360931:T:G	acceptor_gain	0.7600
11:56361023:T:G	acceptor_gain	0.7300
11:56360925:A:G	acceptor_gain	0.7200
11:56361088:T:A	acceptor_gain	0.7200
11:56360924:A:AG	acceptor_gain	0.7100
11:56361084:AC:A	acceptor_gain	0.6700
11:56360275:C:CG	donor_gain	0.6500
11:56360422:T:G	donor_gain	0.6500
11:56361084:A:AG	acceptor_gain	0.6200
11:56360271:GTCAC:G	donor_gain	0.5900
11:56360272:TCACT:T	donor_gain	0.5900
11:56361083:C:G	acceptor_gain	0.5800
11:56360926:A:G	acceptor_gain	0.5600
11:56360930:A:AG	acceptor_gain	0.5600
11:56360920:T:G	acceptor_gain	0.5400
11:56360931:T:TA	acceptor_gain	0.5300
11:56360927:A:G	acceptor_gain	0.5200
11:56360929:T:G	acceptor_gain	0.5200
11:56360930:AT:A	acceptor_gain	0.5200
11:56360928:ATAT:A	acceptor_gain	0.5100
11:56361034:G:GT	donor_gain	0.5000
11:56361092:A:AG	acceptor_gain	0.5000
11:56360927:AATAT:A	acceptor_gain	0.4900
11:56360938:CAGAA:C	acceptor_gain	0.4900
11:56361028:A:AG	acceptor_gain	0.4900
11:56361029:G:GG	acceptor_gain	0.4900
11:56360275:C:G	donor_gain	0.4700
11:56360426:C:CG	donor_gain	0.4600

AlphaMissense

2046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56360280:T:C	F12L	0.933
11:56360282:T:A	F12L	0.933
11:56360282:T:G	F12L	0.933
11:56360736:T:C	F164L	0.922
11:56360738:C:A	F164L	0.922
11:56360738:C:G	F164L	0.922
11:56360775:T:C	F177L	0.916
11:56360777:T:A	F177L	0.916
11:56360777:T:G	F177L	0.916
11:56360556:T:C	F104L	0.880
11:56360558:C:A	F104L	0.880
11:56360558:C:G	F104L	0.880
11:56360281:T:C	F12S	0.855
11:56361120:A:C	S292R	0.835
11:56361122:C:A	S292R	0.835
11:56361122:C:G	S292R	0.835
11:56360611:G:C	R122P	0.825
11:56360337:T:C	F31L	0.814
11:56360339:T:A	F31L	0.814
11:56360339:T:G	F31L	0.814
11:56360997:T:C	F251L	0.813
11:56360999:T:A	F251L	0.813
11:56360999:T:G	F251L	0.813
11:56360456:T:A	N70K	0.808
11:56360456:T:G	N70K	0.808
11:56360372:C:A	N42K	0.796
11:56360372:C:G	N42K	0.796
11:56360958:T:C	F238L	0.792
11:56360960:T:A	F238L	0.792
11:56360960:T:G	F238L	0.792

dbSNP variants (sampled 300 via entrez): RS1000027116 (11:56356399 C>T), RS1000832905 (11:56358628 C>G,T), RS1000921459 (11:56353368 G>A,T), RS1001030774 (11:56355199 G>A), RS1001635146 (11:56357962 T>A,C), RS1001664702 (11:56357667 T>A,C), RS1001667515 (11:56358309 C>A,G), RS1002158191 (11:56352637 G>A,C), RS1002272140 (11:56359732 A>G), RS1002377267 (11:56352893 T>G), RS1002579070 (11:56361862 G>C), RS1003305958 (11:56359064 A>T), RS1003746289 (11:56358882 A>G), RS1003793755 (11:56355715 C>G), RS1004429899 (11:56352926 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
bisphenol A	increases methylation	1
Fulvestrant	decreases methylation	1
Acetaminophen	decreases expression	1
Hydrogen Peroxide	affects expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists