OR5J2

Summary

OR5J2 (olfactory receptor family 5 subfamily J member 2, HGNC:19612) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5J2 (Q8NH18). 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 282775 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001005492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19612
Approved symbol	OR5J2
Name	olfactory receptor family 5 subfamily J member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174957
Ensembl biotype	protein_coding
Entrez	282775

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000312298

RefSeq mRNA: 1 — MANE Select: NM_001005492 NM_001005492

CCDS: CCDS31522

Canonical transcript exons

ENST00000312298 — 1 exons

Exon	Start	End
ENSE00001190110	56176618	56177556

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 42.26.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	42.26	gold quality
granulocyte	CL:0000094	37.98	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	35.11	gold quality
muscle tissue	UBERON:0002385	32.33	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	32.09	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.29	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.79	silver quality
liver	UBERON:0002107	28.69	gold quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.92	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.91	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
blood	UBERON:0000178	25.95	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	25.21	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	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5j3	ENSMUSG00000047149

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), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), 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 5J2 — Q8NH18 (reviewed: Q8NH18)

Alternative names: Olfactory receptor OR11-266

All UniProt accessions (2): Q8NH18, A0A126GVP0

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_001005492* (*=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-Q8NH18-F1	83.40	0.36

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: 21 (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_ODORANT_BINDING, 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, GSE18791_CTRL_VS_NEWCASTLE_VIRUS_DC_1H_UP, GSE18791_CTRL_VS_NEWCASTLE_VIRUS_DC_2H_UP

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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

316 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5J2	GOLGA6L7	A0A1B0GV03	669
OR5J2	ZNF658	Q5TYW1	574
OR5J2	TAS2R41	P59536	501
OR5J2	C2orf81	A6NN90	479
OR5J2	PLEKHJ1	Q9NW61	469
OR5J2	FHAD1	B1AJZ9	448
OR5J2	CCDC154	A6NI56	447
OR5J2	GALNTL5	Q7Z4T8	445
OR5J2	STMP1	E0CX11	435
OR5J2	SGCZ	Q96LD1	435
OR5J2	HEPHL1	Q6MZM0	431
OR5J2	IQCN	Q9H0B3	418
OR5J2	LRRC38	Q5VT99	417
OR5J2	RFPL3	O75679	411
OR5J2	TAS1R3	Q7RTX0	398

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

184 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56176996:G:GG	donor_gain	0.8400
11:56176740:G:GT	donor_gain	0.7100
11:56176991:CCATT:C	donor_gain	0.7100
11:56176983:C:G	donor_gain	0.6900
11:56176994:TT:T	donor_gain	0.6900
11:56176717:A:AG	donor_gain	0.6400
11:56177290:A:AG	acceptor_gain	0.6300
11:56177291:G:GG	acceptor_gain	0.6300
11:56176877:TTGTG:T	donor_gain	0.6200
11:56176914:AC:A	donor_gain	0.6200
11:56176909:AT:A	acceptor_gain	0.6100
11:56176886:C:T	donor_gain	0.5900
11:56177291:GC:G	acceptor_gain	0.5900
11:56176793:T:G	donor_gain	0.5800
11:56176992:CATTG:C	donor_loss	0.5700
11:56176995:TGTGA:T	donor_loss	0.5700
11:56176997:TGAGT:T	donor_loss	0.5700
11:56176999:AGT:A	donor_loss	0.5700
11:56176998:GAG:G	donor_loss	0.5600
11:56177000:G:C	donor_loss	0.5600
11:56176718:T:G	donor_gain	0.5400
11:56176993:ATT:A	donor_gain	0.5400
11:56176992:CATT:C	donor_gain	0.5300
11:56177286:T:TA	acceptor_gain	0.5200
11:56176691:C:G	donor_gain	0.5000
11:56177289:TAG:T	acceptor_gain	0.5000
11:56177291:GCCT:G	acceptor_gain	0.5000
11:56177363:C:G	donor_gain	0.5000
11:56177370:CTATG:C	donor_loss	0.5000
11:56177371:TATGG:T	donor_loss	0.5000

AlphaMissense

2039 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56176651:T:C	F12L	0.792
11:56176653:T:A	F12L	0.792
11:56176653:T:G	F12L	0.792
11:56177119:T:C	F168L	0.788
11:56177121:T:A	F168L	0.788
11:56177121:T:G	F168L	0.788
11:56176927:T:C	F104L	0.622
11:56176929:C:A	F104L	0.622
11:56176929:C:G	F104L	0.622
11:56177146:T:C	F177L	0.622
11:56177148:C:A	F177L	0.622
11:56177148:C:G	F177L	0.622
11:56177149:T:C	F178L	0.622
11:56177151:C:A	F178L	0.622
11:56177151:C:G	F178L	0.622
11:56177329:T:C	F238L	0.567
11:56177331:C:A	F238L	0.567
11:56177331:C:G	F238L	0.567
11:56176897:T:C	F94L	0.566
11:56176899:C:A	F94L	0.566
11:56176899:C:G	F94L	0.566

dbSNP variants (sampled 300 via entrez): RS1000494670 (11:56175975 A>C), RS1001951980 (11:56175703 T>C), RS1002064957 (11:56175348 G>A,T), RS1003233000 (11:56176764 C>G,T), RS1003964819 (11:56177993 C>G,T), RS1004078067 (11:56177748 G>A), RS1004178347 (11:56176375 T>G), RS1005636516 (11:56176796 A>G), RS1005749455 (11:56176592 A>G), RS1008268247 (11:56175292 C>A,T), RS1008338582 (11:56175774 T>A,C,G), RS1008664727 (11:56175507 T>C), RS1008715414 (11:56175021 T>A), RS1012644457 (11:56175742 G>A), RS1013489139 (11:56175947 T>A)

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

1 associations (top):

Study	Trait	p-value
GCST005580_59	Intraocular pressure	3.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

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	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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