OR2J1

Summary

OR2J1 (olfactory receptor family 2 subfamily J member 1, HGNC:8259) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2J1 (Q9GZK6). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 442185 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• MANE Select transcript: NM_001348294

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8259
Approved symbol	OR2J1
Name	olfactory receptor family 2 subfamily J member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	OR6-5, hs6M1-4, dJ80I19.2
Ensembl gene	ENSG00000204702
Ensembl biotype	protein_coding
Entrez	442185

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000377171, ENST00000641659

RefSeq mRNA: 1 — MANE Select: NM_001348294 NM_001348294

CCDS: CCDS87377

Canonical transcript exons

ENST00000427659 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 72.85.

Top tissues by expression

131 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	72.85	silver quality
sural nerve	UBERON:0015488	37.83	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	36.59	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
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
right uterine tube	UBERON:0001302	30.10	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
leukocyte	CL:0000738	29.10	gold quality
liver	UBERON:0002107	28.80	gold quality
monocyte	CL:0000576	28.64	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	26.77	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.47	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
muscle of leg	UBERON:0001383	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.14

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 2J1 — Q9GZK6 (reviewed: Q9GZK6)

Alternative names: Hs6M1-4, Olfactory receptor 6-5

All UniProt accessions (1): Q9GZK6

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon in the gene coding for this protein at position Gln-194 is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans.

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

RefSeq proteins (1): NP_001335223* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZK6-F1	89.21	0.64

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: 17 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, 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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

90 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2J1	TAAR5	O14804	438
OR2J1	SYNE1	Q8NF91	372
OR2J1	MCCD1	P59942	305
OR2J1	OR52A1	Q9UKL2	298
OR2J1	OR52A5	Q9H2C5	284
OR2J1	C6orf136	Q5SQH8	271
OR2J1	ZBTB9	Q96C00	270
OR2J1	CATSPERG	Q6ZRH7	248
OR2J1	SCAND3	Q6R2W3	223
OR2J1	CATSPERD	Q86XM0	220
OR2J1	A0A0B4J1T7	A0A0B4J1T7	219
OR2J1	CATSPER4	Q7RTX7	213
OR2J1	OR51Q1	Q8NH59	208
OR2J1	CATSPER3	Q86XQ3	202
OR2J1	CATSPERB	Q9H7T0	200
OR2J1	LY6G6F	Q5SQ64	200

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

111 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29101708:GTCAT:G	acceptor_gain	0.9000
6:29101707:A:AG	acceptor_gain	0.8800
6:29101708:G:GG	acceptor_gain	0.8800
6:29101708:GTC:G	acceptor_gain	0.8000
6:29101318:GCT:G	donor_gain	0.7500
6:29101233:T:TA	donor_gain	0.6900
6:29101389:TTGGG:T	donor_loss	0.6900
6:29101390:TGGG:T	donor_loss	0.6900
6:29101391:GGGTA:G	donor_loss	0.6900
6:29101393:GT:G	donor_loss	0.6900
6:29101394:T:A	donor_loss	0.6900
6:29101525:GCAAA:G	donor_gain	0.6900
6:29101546:GTCA:G	donor_gain	0.6900
6:29101547:TCAT:T	donor_gain	0.6900
6:29101391:GG:G	donor_gain	0.6800
6:29101392:GG:G	donor_gain	0.6800
6:29101708:GT:G	acceptor_gain	0.6800
6:29101393:G:GG	donor_gain	0.6700
6:29101702:A:AG	acceptor_gain	0.6500
6:29101324:T:A	donor_gain	0.6400
6:29101388:CTTGG:C	donor_gain	0.6100
6:29101390:TGG:T	donor_gain	0.6100
6:29101391:GGG:G	donor_gain	0.6100
6:29101293:G:GA	donor_gain	0.6000
6:29101708:GTCA:G	acceptor_gain	0.6000
6:29101234:T:TA	donor_gain	0.5900
6:29101395:AAGTG:A	donor_loss	0.5900
6:29101526:C:T	donor_gain	0.5800
6:29101121:T:G	donor_gain	0.5700
6:29101548:C:A	donor_gain	0.5600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001435650 (6:29099062 T>A,C), RS1001865631 (6:29099330 C>T), RS1002844226 (6:29100630 TA>T), RS1002912956 (6:29097838 T>C), RS1003138792 (6:29097536 G>A,C), RS1004912720 (6:29102478 T>C), RS1005552023 (6:29099016 GAT>G), RS1005584802 (6:29099294 T>C), RS1007012002 (6:29098440 A>G), RS1010047065 (6:29099706 T>C), RS1011697906 (6:29097571 C>T), RS1011724126 (6:29097871 A>C,G), RS1012074555 (6:29102607 C>T), RS1015514519 (6:29101693 C>G), RS1015550428 (6:29102119 G>C,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

9 associations (top):

Study	Trait	p-value
GCST003518_59	Daytime sleep phenotypes	3.000000e-06
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
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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