OR2J2

Summary

OR2J2 (olfactory receptor family 2 subfamily J member 2, HGNC:8260) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2J2 (O76002). 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 26707 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_030905

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8260
Approved symbol	OR2J2
Name	olfactory receptor family 2 subfamily J member 2
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	OR6-8, hs6M1-6, dJ80I19.4
Ensembl gene	ENSG00000204700
Ensembl biotype	protein_coding
Entrez	26707

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000377167, ENST00000641417

RefSeq mRNA: 1 — MANE Select: NM_030905 NM_030905

CCDS: CCDS43434

Canonical transcript exons

ENST00000358688 — 0 exons

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 75.13.

Top tissues by expression

124 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	75.13	silver quality
right uterine tube	UBERON:0001302	37.84	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	36.58	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
hindlimb stylopod muscle	UBERON:0004252	35.47	gold quality
fallopian tube	UBERON:0003889	35.27	gold quality
skeletal muscle tissue	UBERON:0001134	34.93	gold quality
testis	UBERON:0000473	34.58	silver quality
right testis	UBERON:0004534	34.57	silver quality
left testis	UBERON:0004533	33.75	silver quality
bone marrow	UBERON:0002371	32.75	gold quality
muscle tissue	UBERON:0002385	32.20	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
vermiform appendix	UBERON:0001154	30.10	silver quality
liver	UBERON:0002107	30.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.56	gold quality
prefrontal cortex	UBERON:0000451	29.36	gold quality
monocyte	CL:0000576	29.14	gold quality
corpus callosum	UBERON:0002336	28.96	gold quality
lymph node	UBERON:0000029	28.65	gold quality
calcaneal tendon	UBERON:0003701	28.43	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.63	gold quality
ectocervix	UBERON:0012249	27.37	gold quality
uterine cervix	UBERON:0000002	27.27	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

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2j3	ENSMUSG00000054940
rattus_norvegicus	Or2j3	ENSRNOG00000000726

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 2J2 — O76002 (reviewed: O76002)

Alternative names: Hs6M1-6, Olfactory receptor 6-8, Olfactory receptor OR6-19

All UniProt accessions (2): O76002, A0A126GWS4

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. Three OR2J2 alleles are known: 6M1-601, 6M1-602 and 6M1-603. The sequence shown is that of allele 6M1-601.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_112167* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 4, 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-O76002-F1	89.28	0.68

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): 98–190

Glycosylation sites (1): 6

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 26 (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, RAPA_EARLY_UP.V1_DN, JNK_DN.V1_UP, GSE13411_IGM_VS_SWITCHED_MEMORY_BCELL_UP, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

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-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
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
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

220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2J2	YAE1	Q9NRH1	418
OR2J2	ZNF311	Q5JNZ3	402
OR2J2	TTC7B	Q86TV6	355
OR2J2	E9PCK9	E9PCK9	338
OR2J2	DISP3	Q9P2K9	323
OR2J2	SERPINI2	O75830	320
OR2J2	SEC14L6	B5MCN3	311
OR2J2	CCDC3	Q9BQI4	310
OR2J2	ZNF165	P49910	306
OR2J2	SLC35A4	Q96G79	305
OR2J2	NUPR2	A6NF83	305
OR2J2	BTN3A2	P78410	298
OR2J2	MCTP2	Q6DN12	290
OR2J2	GRID2IP	A4D2P6	290
OR2J2	SLC5A9	Q2M3M2	286

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

251 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29173529:G:GT	donor_gain	0.9400
6:29173529:G:T	donor_gain	0.7900
6:29173485:G:T	donor_gain	0.7800
6:29174401:GTCAT:G	acceptor_gain	0.7800
6:29174400:A:AG	acceptor_gain	0.7700
6:29174401:G:GG	acceptor_gain	0.7700
6:29174132:G:A	acceptor_gain	0.7200
6:29173986:G:GA	donor_gain	0.7000
6:29173985:T:TA	donor_gain	0.6400
6:29173927:T:TA	donor_gain	0.6300
6:29173926:T:TA	donor_gain	0.6200
6:29174401:GTC:G	acceptor_gain	0.6000
6:29173402:G:T	donor_gain	0.5900
6:29174004:T:G	donor_gain	0.5900
6:29173613:CTTTA:C	acceptor_loss	0.5800
6:29173614:TTTA:T	acceptor_loss	0.5800
6:29173615:TTAG:T	acceptor_loss	0.5800
6:29173616:TAG:T	acceptor_loss	0.5800
6:29173617:A:C	acceptor_loss	0.5800
6:29173618:G:A	acceptor_loss	0.5800
6:29173969:GA:G	donor_gain	0.5800
6:29173928:GCATG:G	donor_gain	0.5500
6:29173917:G:GG	donor_gain	0.5400
6:29174131:T:TA	acceptor_gain	0.5300
6:29173322:G:GG	donor_gain	0.5200
6:29173564:G:GG	donor_gain	0.5200
6:29173536:G:GT	donor_gain	0.4900
6:29173708:G:GT	donor_gain	0.4900
6:29173844:T:A	acceptor_gain	0.4900
6:29173889:A:G	donor_gain	0.4900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000209463 (6:29172258 A>T), RS1003451111 (6:29170464 A>C,G), RS1003804934 (6:29170019 T>C), RS1004741152 (6:29173197 A>T), RS1005404435 (6:29169741 A>C,G), RS1006410552 (6:29171457 A>C,G), RS1006753726 (6:29176247 T>C), RS1007294800 (6:29170878 C>G), RS1008919003 (6:29168938 A>G), RS1010374258 (6:29172211 C>A,G,T), RS1010731970 (6:29171833 C>A,T), RS1011082831 (6:29169205 G>C), RS1012375577 (6:29175308 G>A), RS1012737079 (6:29174867 T>G), RS1014752435 (6:29173199 T>C)

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

34 associations (top):

Study	Trait	p-value
GCST002194_1	Social communication problems	3.000000e-07
GCST003518_59	Daytime sleep phenotypes	3.000000e-06
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_212	Autism spectrum disorder or schizophrenia	5.000000e-14
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_7	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_73	Autism spectrum disorder or schizophrenia	8.000000e-11
GCST004521_84	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_91	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST004748_95	Lung cancer	4.000000e-12
GCST004748_96	Lung cancer	1.000000e-12
GCST004749_80	Lung cancer in ever smokers	1.000000e-07
GCST004749_81	Lung cancer in ever smokers	8.000000e-08
GCST004750_45	Squamous cell lung carcinoma	3.000000e-11
GCST004750_46	Squamous cell lung carcinoma	3.000000e-12
GCST004866_25	Alopecia areata	9.000000e-07
GCST006575_12	Takayasu arteritis	7.000000e-06
GCST008916_89	Asthma	2.000000e-10
GCST008921_4	Asthma and major depressive disorder	2.000000e-11
GCST010083_217	Hemoglobin levels	3.000000e-33
GCST010102_7	White matter integrity (fractional anisotropy)	2.000000e-09
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment
EFO:0007828	daytime rest measurement
EFO:0004509	hemoglobin measurement
EFO:0004641	white matter integrity
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

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
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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