OR9Q2

Summary

OR9Q2 (olfactory receptor family 9 subfamily Q member 2, HGNC:15328) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 9Q2 (Q8NGE9). 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 219957 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_001005283

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15328
Approved symbol	OR9Q2
Name	olfactory receptor family 9 subfamily Q member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000186513
Ensembl biotype	protein_coding
Entrez	219957

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641291

RefSeq mRNA: 1 — MANE Select: NM_001005283 NM_001005283

CCDS: CCDS31544

Canonical transcript exons

ENST00000641291 — 2 exons

Exon	Start	End
ENSE00003811715	58189070	58189108
ENSE00003813441	58190319	58194053

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 42.86.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	42.86	silver quality
granulocyte	CL:0000094	39.81	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	36.27	gold quality
monocyte	CL:0000576	36.24	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
leukocyte	CL:0000738	36.13	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
apex of heart	UBERON:0002098	35.40	gold quality
sural nerve	UBERON:0015488	35.10	gold quality
muscle tissue	UBERON:0002385	34.41	gold quality
bone marrow	UBERON:0002371	32.82	gold quality
lymph node	UBERON:0000029	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
tonsil	UBERON:0002372	31.75	gold quality
placenta	UBERON:0001987	30.75	gold quality
calcaneal tendon	UBERON:0003701	30.74	gold quality
liver	UBERON:0002107	30.18	gold quality
prefrontal cortex	UBERON:0000451	29.95	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
blood	UBERON:0000178	29.44	gold quality
urinary bladder	UBERON:0001255	29.33	gold quality
vermiform appendix	UBERON:0001154	29.21	gold quality
endometrium	UBERON:0001295	29.10	gold quality
gall bladder	UBERON:0002110	28.51	gold quality
right uterine tube	UBERON:0001302	28.44	gold quality
muscle of leg	UBERON:0001383	28.29	gold quality
duodenum	UBERON:0002114	28.14	gold quality
smooth muscle tissue	UBERON:0001135	27.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or9q2	ENSMUSG00000044040
rattus_norvegicus	Or9q2	ENSRNOG00000013198

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), OR5J2 (ENSG00000174957), 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)

Protein

Protein identifiers

Olfactory receptor 9Q2 — Q8NGE9 (reviewed: Q8NGE9)

All UniProt accessions (2): A0A126GW85, Q8NGE9

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_001005283* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGE9-F1	85.20	0.46

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): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, 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, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), 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
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to 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

370 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR9Q2	TTPAL	Q9BTX7	433
OR9Q2	KRT82	Q9NSB4	397
OR9Q2	DRD3	P35462	381
OR9Q2	MTMR12	Q9C0I1	377
OR9Q2	R3HDM1	Q15032	358
OR9Q2	TMCO5A	Q8N6Q1	356
OR9Q2	TMPRSS5	Q9H3S3	354
OR9Q2	ADAMTS19	Q8TE59	344
OR9Q2	SPNS3	Q6ZMD2	337
OR9Q2	GALNT9	Q9HCQ5	327
OR9Q2	NCOA7	Q8NI08	314
OR9Q2	HEXIM2	Q96MH2	311
OR9Q2	MIPOL1	Q8TD10	309
OR9Q2	PALD1	Q9ULE6	307
OR9Q2	PPP2R5D	Q14738	306

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR9Q2	MYH9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (4): OR9Q2 (Proximity Label-MS), OR9Q2 (Cross-Linking-MS (XL-MS)), OR9Q2 (Cross-Linking-MS (XL-MS)), OR9Q2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

Diamond homologs: A6NL26, O95221, P0C617, P0C626, P0C7N1, P0C7N5, P0C7N8, P0DMU2, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60886, Q60893, Q60894, Q60895, Q6IEU7, Q6UXT6, Q7TR96, Q8N0Y5, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NGC0, Q8NGE9, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2, Q8NGG3, Q8NGG4, Q8NGG5, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

186 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58191076:G:GT	donor_gain	0.9800
11:58191076:G:T	donor_gain	0.9400
11:58191079:GTG:G	donor_gain	0.9200
11:58191081:G:GA	donor_gain	0.8300
11:58191077:A:T	donor_gain	0.8100
11:58191080:T:TA	donor_gain	0.7800
11:58191376:G:GT	donor_gain	0.7700
11:58190930:GGGCT:G	donor_gain	0.7600
11:58191158:T:TA	acceptor_gain	0.7000
11:58191330:G:GA	donor_gain	0.6800
11:58190931:GGCT:G	donor_gain	0.6700
11:58190932:GCT:G	donor_gain	0.6600
11:58191130:A:AG	donor_gain	0.6600
11:58191329:T:TA	donor_gain	0.6400
11:58191078:A:AG	donor_gain	0.6200
11:58191077:AAGTG:A	donor_loss	0.6000
11:58191078:AGTG:A	donor_loss	0.6000
11:58191079:GTGGT:G	donor_loss	0.6000
11:58191080:TGGTG:T	donor_loss	0.6000
11:58191081:GG:G	donor_loss	0.6000
11:58191082:GT:G	donor_loss	0.6000
11:58191083:T:A	donor_loss	0.6000
11:58191246:T:TA	acceptor_gain	0.5900
11:58191084:GA:G	donor_loss	0.5800
11:58191496:A:AG	acceptor_gain	0.5800
11:58191497:G:GG	acceptor_gain	0.5800
11:58191075:GGAA:G	donor_gain	0.5700
11:58190786:C:G	donor_gain	0.5600
11:58191030:C:G	donor_gain	0.5600
11:58191159:G:A	acceptor_gain	0.5500

AlphaMissense

2047 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58191022:T:C	F178L	0.952
11:58191024:C:A	F178L	0.952
11:58191024:C:G	F178L	0.952
11:58190524:T:C	F12L	0.951
11:58190526:C:A	F12L	0.951
11:58190526:C:G	F12L	0.951
11:58190980:T:C	F164L	0.940
11:58190982:C:A	F164L	0.940
11:58190982:C:G	F164L	0.940
11:58190800:T:C	F104L	0.936
11:58190802:C:A	F104L	0.936
11:58190802:C:G	F104L	0.936
11:58190953:A:C	S155R	0.934
11:58190955:T:A	S155R	0.934
11:58190955:T:G	S155R	0.934
11:58190992:T:C	F168L	0.930
11:58190994:T:A	F168L	0.930
11:58190994:T:G	F168L	0.930
11:58191361:A:C	S291R	0.927
11:58191363:C:A	S291R	0.927
11:58191363:C:G	S291R	0.927
11:58191244:T:C	F252L	0.916
11:58191246:T:A	F252L	0.916
11:58191246:T:G	F252L	0.916
11:58191025:T:A	C179S	0.915
11:58191026:G:C	C179S	0.915
11:58190844:G:A	M118I	0.910
11:58190844:G:C	M118I	0.910
11:58190844:G:T	M118I	0.910
11:58191016:T:C	F176L	0.910

dbSNP variants (sampled 300 via entrez): RS1000709633 (11:58188177 T>C,G), RS1001125231 (11:58191424 A>G), RS1002056361 (11:58194168 C>G), RS1002247973 (11:58189391 T>G), RS1003611074 (11:58192954 T>A,C), RS1003798188 (11:58194064 T>C), RS1003914222 (11:58193773 T>C), RS1004843255 (11:58189231 A>C), RS1005075664 (11:58188743 T>G), RS1005196205 (11:58188874 T>C), RS1005628346 (11:58192686 A>G), RS1005640540 (11:58192582 G>A), RS1005946444 (11:58193495 A>G), RS1006066987 (11:58187543 C>G), RS1006459186 (11:58193768 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

3 associations (top):

Study	Trait	p-value
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis, affects methylation	2
bisphenol A	decreases methylation	1
Air Pollutants	increases expression	1
Amiodarone	increases expression	1
Cadmium	decreases expression, increases abundance	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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