OR1J2

Summary

OR1J2 (olfactory receptor family 1 subfamily J member 2, HGNC:8209) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1J2 (Q8NGS2). 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 26740 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 207 total
• MANE Select transcript: NM_054107

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8209
Approved symbol	OR1J2
Name	olfactory receptor family 1 subfamily J member 2
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OST044
Ensembl gene	ENSG00000197233
Ensembl biotype	protein_coding
Entrez	26740

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000335302

RefSeq mRNA: 1 — MANE Select: NM_054107 NM_054107

CCDS: CCDS35121

Canonical transcript exons

ENST00000335302 — 1 exons

Exon	Start	End
ENSE00001345232	122510802	122511743

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 76.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2683 / max 38.3105, expressed in 110 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98423	0.1971	82
98424	0.0712	41

Top tissues by expression

232 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	76.52	silver quality
buccal mucosa cell	CL:0002336	70.44	silver quality
epithelium of nasopharynx	UBERON:0001951	58.50	gold quality
skin of hip	UBERON:0001554	56.85	silver quality
oocyte	CL:0000023	55.21	gold quality
sperm	CL:0000019	53.83	gold quality
upper leg skin	UBERON:0004262	52.05	silver quality
cardia of stomach	UBERON:0001162	44.88	gold quality
vastus lateralis	UBERON:0001379	44.72	gold quality
quadriceps femoris	UBERON:0001377	44.61	gold quality
inferior vagus X ganglion	UBERON:0005363	44.21	gold quality
dorsal root ganglion	UBERON:0000044	44.17	gold quality
endometrium	UBERON:0001295	44.17	gold quality
subthalamic nucleus	UBERON:0001906	44.13	gold quality
trigeminal ganglion	UBERON:0001675	44.00	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
mammalian vulva	UBERON:0000997	43.22	gold quality
granulocyte	CL:0000094	43.21	silver quality
mucosa of stomach	UBERON:0001199	42.94	silver quality
oviduct epithelium	UBERON:0004804	42.94	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
germinal epithelium of ovary	UBERON:0001304	42.48	gold quality
stromal cell of endometrium	CL:0002255	42.47	silver quality
mammary duct	UBERON:0001765	42.07	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	41.99	gold quality
dorsal plus ventral thalamus	UBERON:0001897	41.77	gold quality
pigmented layer of retina	UBERON:0001782	41.65	gold quality
bone marrow cell	CL:0002092	41.62	gold quality
middle temporal gyrus	UBERON:0002771	41.36	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 1J2 — Q8NGS2 (reviewed: Q8NGS2)

Alternative names: HSA5, HTPCRX15, OST044, Olfactory receptor 1J3, Olfactory receptor 1J5, Olfactory receptor OR9-19

All UniProt accessions (2): A0A126GW18, Q8NGS2

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_473448* (*=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 2, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGS2-F1	88.18	0.63

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): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, 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

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

240 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1J2	STAG2	Q8N3U4	598
OR1J2	OR51G1	Q8NGK1	434
OR1J2	OR51G2	Q8NGK0	420
OR1J2	OR52K2	Q8NGK3	411
OR1J2	OR2L13	Q8N349	407
OR1J2	OR4M1	Q8NGD0	407
OR1J2	ELOVL2	Q9NXB9	407
OR1J2	OR52B2	Q96RD2	405
OR1J2	OR2C1	O95371	400
OR1J2	OR4X1	Q8NH49	398
OR1J2	ZNF835	Q9Y2P0	348
OR1J2	TIPE3	Q5GJ75	321
OR1J2	JHY	Q6NUN7	313
OR1J2	FAM81A	Q8TBF8	307
OR1J2	MOGAT3	Q86VF5	300

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	191
Likely benign	14
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

303 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122510900:C:T	donor_gain	0.7700
9:122511040:A:G	acceptor_gain	0.7000
9:122510874:G:GT	donor_gain	0.6800
9:122511591:G:GG	donor_gain	0.6500
9:122510919:C:CG	donor_gain	0.6400
9:122511065:G:GG	donor_gain	0.6400
9:122511123:ACT:A	acceptor_gain	0.6300
9:122511587:GACT:G	donor_gain	0.6300
9:122511104:G:GG	donor_gain	0.6100
9:122511405:G:GG	donor_gain	0.6100
9:122511412:T:TA	donor_gain	0.6100
9:122511669:TACAG:T	acceptor_gain	0.6100
9:122510827:TGTCC:T	donor_gain	0.5900
9:122510828:GTCCG:G	donor_gain	0.5900
9:122511125:T:A	acceptor_gain	0.5900
9:122511413:G:GA	donor_gain	0.5900
9:122511558:G:A	acceptor_gain	0.5900
9:122511373:A:G	donor_gain	0.5800
9:122511542:G:GA	donor_gain	0.5800
9:122511557:T:TA	acceptor_gain	0.5800
9:122511671:CAG:C	acceptor_gain	0.5800
9:122510952:C:G	donor_gain	0.5700
9:122511612:G:GT	donor_gain	0.5700
9:122511641:G:GA	donor_gain	0.5700
9:122510978:G:GG	donor_gain	0.5600
9:122511404:A:AG	donor_gain	0.5600
9:122511673:G:T	acceptor_gain	0.5600
9:122510829:TCC:T	donor_gain	0.5500
9:122511572:C:T	donor_gain	0.5500
9:122511640:T:TA	donor_gain	0.5500

AlphaMissense

2057 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122510835:T:C	F12L	0.930
9:122510837:C:A	F12L	0.930
9:122510837:C:G	F12L	0.930
9:122511672:A:C	S291R	0.895
9:122511674:C:A	S291R	0.895
9:122511674:C:G	S291R	0.895
9:122511303:T:C	F168L	0.882
9:122511305:C:A	F168L	0.882
9:122511305:C:G	F168L	0.882
9:122511333:T:C	F178L	0.882
9:122511335:C:A	F178L	0.882
9:122511335:C:G	F178L	0.882
9:122511155:G:A	M118I	0.864
9:122511155:G:C	M118I	0.864
9:122511155:G:T	M118I	0.864
9:122511178:T:A	I126K	0.836
9:122511166:G:C	R122P	0.833
9:122511135:A:C	S112R	0.826
9:122511137:C:A	S112R	0.826
9:122511137:C:G	S112R	0.826
9:122511680:G:C	R293S	0.818
9:122511680:G:T	R293S	0.818
9:122510892:T:C	F31L	0.785
9:122510894:C:A	F31L	0.785
9:122510894:C:G	F31L	0.785
9:122511509:A:C	K236N	0.785
9:122511509:A:T	K236N	0.785
9:122511246:T:A	W149R	0.781
9:122511246:T:C	W149R	0.781
9:122511157:C:A	A119E	0.775

dbSNP variants (sampled 300 via entrez): RS1000002481 (9:122569144 C>G,T), RS1000033923 (9:122564407 G>A,T), RS1000045065 (9:122475650 T>C), RS1000049242 (9:122575730 A>G), RS1000117179 (9:122529292 G>A,C), RS1000126539 (9:122464299 T>C), RS1000160219 (9:122542369 G>C), RS1000177500 (9:122566941 A>G), RS1000203659 (9:122539864 A>C), RS1000204602 (9:122573176 C>G), RS1000216630 (9:122534266 T>C), RS1000243863 (9:122475429 T>A), RS1000246798 (9:122563434 T>C), RS1000268799 (9:122534033 G>C), RS1000312500 (9:122487073 C>A,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

0 associations (top):

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
CGP 52608	increases reaction, affects binding	1
Benzo(a)pyrene	affects methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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