OR2AJ1

Summary

OR2AJ1 (olfactory receptor family 2 subfamily AJ member 1, HGNC:15001) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2AJ1 (Q8NGZ0). 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 127608 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001355235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15001
Approved symbol	OR2AJ1
Name	olfactory receptor family 2 subfamily AJ member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	OR2AJ1Q
Ensembl gene	ENSG00000177275
Ensembl biotype	protein_coding
Entrez	127608

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000318244

RefSeq mRNA: 1 — MANE Select: NM_001355235 NM_001355235

CCDS: CCDS91193

Canonical transcript exons

ENST00000318244 — 2 exons

Exon	Start	End
ENSE00001277848	247933747	247935339
ENSE00003812256	247924889	247925168

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 42.58.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	42.58	gold quality
superior frontal gyrus	UBERON:0002661	42.55	silver quality
bone marrow cell	CL:0002092	42.28	gold quality
prefrontal cortex	UBERON:0000451	41.73	silver quality
bone marrow	UBERON:0002371	38.54	gold quality
granulocyte	CL:0000094	37.56	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
frontal cortex	UBERON:0001870	37.10	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
primary visual cortex	UBERON:0002436	36.35	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adrenal tissue	UBERON:0018303	34.84	gold quality
monocyte	CL:0000576	34.49	gold quality
leukocyte	CL:0000738	34.46	gold quality
Ammon’s horn	UBERON:0001954	33.97	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hypothalamus	UBERON:0001898	33.02	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
substantia nigra	UBERON:0002038	32.14	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
nucleus accumbens	UBERON:0001882	29.86	gold quality
right lobe of thyroid gland	UBERON:0001119	28.82	gold quality
tonsil	UBERON:0002372	28.63	gold quality
thyroid gland	UBERON:0002046	28.58	gold quality
liver	UBERON:0002107	28.52	gold quality
left lobe of thyroid gland	UBERON:0001120	28.22	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2aj6	ENSMUSG00000060480
mus_musculus	Or2aj5	ENSMUSG00000062245
mus_musculus	Or2aj4	ENSMUSG00000068535
rattus_norvegicus	Or2aj4	ENSRNOG00000079811
rattus_norvegicus	Or2aj4b	ENSRNOG00000088656

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), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2AJ1 — Q8NGZ0 (reviewed: Q8NGZ0)

All UniProt accessions (1): Q8NGZ0

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_001342164* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGZ0-F1	85.83	0.52

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: 17 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, 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, HMGA1_TARGET_GENES, SAFB2_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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-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
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

60 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2AJ1	DNAJC28	Q9NX36	280
OR2AJ1	DNAJC24	Q6P3W2	272
OR2AJ1	DNAJC27	Q9NZQ0	251
OR2AJ1	TRIM10	Q9UDY6	249
OR2AJ1	TRIM15	Q9C019	245
OR2AJ1	CNPY3	Q9BT09	220
OR2AJ1	OR51B4	Q9Y5P0	215
OR2AJ1	CACNA2D3	Q8IZS8	198
OR2AJ1	RNF167	Q9H6Y7	187
OR2AJ1	IL36B	Q9NZH7	176
OR2AJ1	OR52M1	Q8NGK5	139
OR2AJ1	OR8U3	Q8NH85	123
OR2AJ1	OR8U1	Q8NH10	104
OR2AJ1	HAUS3	Q68CZ6	73
OR2AJ1	ARRB2	P32121	56
OR2AJ1	ARRB1	P49407	56

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2AJ1	HNRNPD	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

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

360 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247934179:G:GT	donor_gain	0.7400
1:247934179:GGA:G	donor_gain	0.7400
1:247934180:GAG:G	donor_gain	0.7400
1:247934056:T:TA	donor_gain	0.7300
1:247934057:T:TA	donor_gain	0.6800
1:247933839:G:GG	donor_gain	0.6700
1:247934031:G:GT	donor_gain	0.6600
1:247934750:T:G	acceptor_gain	0.6600
1:247934016:C:G	donor_gain	0.6500
1:247933794:GCA:G	donor_gain	0.6400
1:247933944:T:G	donor_gain	0.6200
1:247934055:GTTG:G	donor_gain	0.6100
1:247933800:A:AG	donor_gain	0.6000
1:247934014:C:A	donor_gain	0.6000
1:247934502:T:G	acceptor_gain	0.6000
1:247934501:AT:A	acceptor_gain	0.5900
1:247933797:G:GG	donor_gain	0.5800
1:247934182:G:GG	donor_gain	0.5700
1:247933796:A:AG	donor_gain	0.5600
1:247934181:A:AG	donor_gain	0.5600
1:247933801:T:G	donor_gain	0.5500
1:247934636:TACAG:T	acceptor_gain	0.5500
1:247934638:CAG:C	acceptor_gain	0.5400
1:247934367:GT:G	donor_gain	0.5200
1:247934422:T:TA	acceptor_gain	0.5200
1:247934637:ACAG:A	acceptor_gain	0.5200
1:247933843:G:GA	donor_gain	0.5100
1:247933881:GT:G	donor_gain	0.5100
1:247934283:GGGCA:G	acceptor_gain	0.5000
1:247934499:ACAT:A	acceptor_gain	0.5000

AlphaMissense

2182 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247933802:T:C	F12L	0.884
1:247933804:C:A	F12L	0.884
1:247933804:C:G	F12L	0.884
1:247934372:A:C	S202R	0.855
1:247934374:T:A	S202R	0.855
1:247934374:T:G	S202R	0.855
1:247934270:T:C	F168L	0.810
1:247934272:C:A	F168L	0.810
1:247934272:C:G	F168L	0.810
1:247933880:A:C	S38R	0.809
1:247933882:T:A	S38R	0.809
1:247933882:T:G	S38R	0.809
1:247934297:T:C	F177L	0.804
1:247934299:C:A	F177L	0.804
1:247934299:C:G	F177L	0.804
1:247934300:T:C	F178L	0.777
1:247934302:C:A	F178L	0.777
1:247934302:C:G	F178L	0.777
1:247934021:T:C	F85L	0.767
1:247934023:T:A	F85L	0.767
1:247934023:T:G	F85L	0.767
1:247934072:T:C	F102L	0.752
1:247934074:T:A	F102L	0.752
1:247934074:T:G	F102L	0.752
1:247934213:T:A	W149R	0.740
1:247934213:T:C	W149R	0.740
1:247934639:A:C	S291R	0.733
1:247934641:C:A	S291R	0.733
1:247934641:C:G	S291R	0.733
1:247933871:T:C	F35L	0.730

dbSNP variants (sampled 300 via entrez): RS1000247554 (1:247928232 T>G), RS1000865549 (1:247934012 G>A,T), RS1001773161 (1:247934470 GAA>G), RS1001870081 (1:247929537 G>A), RS1002134895 (1:247935644 C>T), RS1002160940 (1:247935826 A>C,G,T), RS1002258758 (1:247929237 C>T), RS1002316980 (1:247935725 A>G,T), RS1002432271 (1:247923839 T>A,C), RS1002893564 (1:247923689 G>A,T), RS1003034781 (1:247932527 T>G), RS1003091429 (1:247926685 T>A), RS1003553199 (1:247926388 A>G), RS1004346120 (1:247925068 A>G), RS1004549290 (1:247924919 T>G)

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)

Clinical trials (associated diseases)

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