OR9A4

Summary

OR9A4 (olfactory receptor family 9 subfamily A member 4, HGNC:15095) is a protein-coding gene on chromosome 7q34, encoding Olfactory receptor 9A4 (Q8NGU2). 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 130075 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001001656

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15095
Approved symbol	OR9A4
Name	olfactory receptor family 9 subfamily A member 4
Location	7q34
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000258083
Ensembl biotype	protein_coding
Entrez	130075

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000548136, ENST00000641559

RefSeq mRNA: 1 — MANE Select: NM_001001656 NM_001001656

CCDS: CCDS43661

Canonical transcript exons

ENST00000641559 — 2 exons

Exon	Start	End
ENSE00003812049	141916399	141916636
ENSE00003813129	141918846	141920625

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 83.44.

Top tissues by expression

115 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	83.44	gold quality
bone marrow	UBERON:0002371	45.69	silver quality
granulocyte	CL:0000094	43.93	silver quality
bone marrow cell	CL:0002092	43.30	gold quality
monocyte	CL:0000576	41.27	gold quality
leukocyte	CL:0000738	40.85	gold quality
lower esophagus mucosa	UBERON:0035834	39.07	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	36.66	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
tonsil	UBERON:0002372	33.93	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
right coronary artery	UBERON:0001625	33.31	gold quality
blood	UBERON:0000178	32.58	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right lung	UBERON:0002167	31.89	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	30.77	gold quality
prefrontal cortex	UBERON:0000451	30.26	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
calcaneal tendon	UBERON:0003701	29.05	gold quality
kidney	UBERON:0002113	28.99	gold quality
gall bladder	UBERON:0002110	28.52	gold quality
corpus callosum	UBERON:0002336	28.46	gold quality
duodenum	UBERON:0002114	28.14	gold quality
endometrium	UBERON:0001295	27.81	gold quality
placenta	UBERON:0001987	27.81	gold quality
lymph node	UBERON:0000029	27.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or9a4	ENSMUSG00000045514
rattus_norvegicus	Or9a4	ENSRNOG00000077728

Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), GPR50 (ENSG00000102195), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), OR11H1 (ENSG00000130538), MTNR1B (ENSG00000134640), MCHR2 (ENSG00000152034), NPY1R (ENSG00000164128), NPY5R (ENSG00000164129), MTNR1A (ENSG00000168412), PROKR1 (ENSG00000169618), TACR3 (ENSG00000169836), OR9G1 (ENSG00000174914), OR11H4 (ENSG00000176198), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR11A1 (ENSG00000204694), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR11H2 (ENSG00000258453), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)

Protein

Protein identifiers

Olfactory receptor 9A4 — Q8NGU2 (reviewed: Q8NGU2)

Alternative names: Olfactory receptor OR7-1

All UniProt accessions (2): A0A126GVB1, Q8NGU2

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_001001656* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-like	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGU2-F1	85.56	0.48

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 (2): 4, 190

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, 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, CEBPGAMMA_Q6, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, chr7q34, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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 (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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR9A4	FBXL22	Q6P050	395
OR9A4	KLHL25	Q9H0H3	391
OR9A4	ZNRF2	Q8NHG8	373
OR9A4	KLHL21	Q9UJP4	367
OR9A4	TPST1	O60507	322
OR9A4	GPSM1	Q86YR5	322
OR9A4	NPFFR1	Q9GZQ6	320
OR9A4	DTX3	Q8N9I9	314
OR9A4	AP1S1	P61966	313
OR9A4	ANKRD62	A6NC57	311
OR9A4	TAS2R38	P59533	302
OR9A4	AP1M1	Q9BXS5	297
OR9A4	UBE2O	Q9C0C9	274
OR9A4	GNG7	O60262	273
OR9A4	DNAJC28	Q9NX36	264

IntAct

0 interactions, top by confidence:

BioGRID (1): OR9A4 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O14581, O76000, O76100, O95007, O95222, P0C617, P0C626, P0C7N5, P23266, P23267, P23269, P23270, P23272, P30955, P34985, P34986, P47890, P58173, P59922, P70526, Q15622, Q5TZ20, Q60882, Q60886, Q6IEU7, Q6UXT6, Q8N0Y5, Q8N127, Q8N146, Q8N148, Q8N162, Q8N628

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

156 predictions. Top by Δscore:

Variant	Effect	Δscore
7:141919517:A:AG	acceptor_gain	0.9800
7:141919499:T:A	acceptor_gain	0.9700
7:141919507:T:A	acceptor_gain	0.9400
7:141919516:C:G	acceptor_gain	0.9300
7:141919518:A:G	acceptor_gain	0.9200
7:141919517:AATT:A	acceptor_gain	0.9000
7:141919515:A:AG	acceptor_gain	0.8900
7:141919500:G:A	acceptor_gain	0.8100
7:141919537:T:G	acceptor_gain	0.7800
7:141919520:T:A	acceptor_gain	0.7700
7:141919527:A:AG	acceptor_gain	0.7700
7:141919536:A:AG	acceptor_gain	0.7400
7:141919519:T:G	acceptor_gain	0.7000
7:141919518:ATT:A	acceptor_gain	0.6900
7:141919529:C:CA	acceptor_gain	0.6900
7:141919539:A:AG	acceptor_gain	0.6900
7:141919540:T:G	acceptor_gain	0.6700
7:141919527:AAC:A	acceptor_gain	0.6600
7:141919545:A:AG	acceptor_gain	0.6600
7:141919528:A:G	acceptor_gain	0.6400
7:141919546:C:G	acceptor_gain	0.6200
7:141919529:C:G	acceptor_gain	0.6100
7:141919535:C:G	acceptor_gain	0.6100
7:141919534:A:AG	acceptor_gain	0.5800
7:141919752:C:CA	acceptor_gain	0.5700
7:141919528:AC:A	acceptor_gain	0.5500
7:141919549:T:G	acceptor_gain	0.5300
7:141919555:A:AG	acceptor_gain	0.5200
7:141919556:G:GG	acceptor_gain	0.5200
7:141919548:A:AG	acceptor_gain	0.5100

AlphaMissense

2067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:141919743:T:C	F290L	0.890
7:141919745:C:A	F290L	0.890
7:141919745:C:G	F290L	0.890
7:141918921:T:C	F16L	0.859
7:141918923:C:A	F16L	0.859
7:141918923:C:G	F16L	0.859
7:141918906:T:C	F11L	0.856
7:141918908:T:A	F11L	0.856
7:141918908:T:G	F11L	0.856
7:141919209:T:C	F112L	0.854
7:141919211:C:A	F112L	0.854
7:141919211:C:G	F112L	0.854
7:141919404:T:C	F177L	0.842
7:141919406:T:A	F177L	0.842
7:141919406:T:G	F177L	0.842
7:141919635:A:C	S254R	0.814
7:141919637:C:A	S254R	0.814
7:141919637:C:G	S254R	0.814
7:141919644:T:C	F257L	0.795
7:141919646:T:A	F257L	0.795
7:141919646:T:G	F257L	0.795
7:141919407:T:C	F178L	0.785
7:141919409:T:A	F178L	0.785
7:141919409:T:G	F178L	0.785
7:141919179:T:C	F102L	0.782
7:141919181:C:A	F102L	0.782
7:141919181:C:G	F102L	0.782
7:141918954:T:C	F27L	0.774
7:141918956:T:A	F27L	0.774
7:141918956:T:G	F27L	0.774

dbSNP variants (sampled 300 via entrez): RS1000673737 (7:141915334 T>C), RS1002289540 (7:141920142 C>G), RS1004248973 (7:141917623 G>C,T), RS1004280106 (7:141917368 T>G), RS1004618235 (7:141916047 G>A,T), RS1005305076 (7:141918843 T>C,G), RS1008936782 (7:141915063 G>A,C), RS1010392778 (7:141915363 C>T), RS1010424076 (7:141915132 T>C), RS1011085162 (7:141918104 A>G), RS1011474088 (7:141916401 G>A,C), RS1012894734 (7:141917321 G>A), RS1013557646 (7:141920113 T>C), RS1015725504 (7:141917385 G>A), RS1016393676 (7:141920160 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
GCST001961_2	Anorexia nervosa	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, decreases methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Copper	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Cadmium Chloride	increases abundance, decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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