OR4D9

Summary

OR4D9 (olfactory receptor family 4 subfamily D member 9, HGNC:15178) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 4D9 (Q8NGE8). 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 390199 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001004711

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15178
Approved symbol	OR4D9
Name	olfactory receptor family 4 subfamily D member 9
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172742
Ensembl biotype	protein_coding
Entrez	390199

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641278, ENST00000641962

RefSeq mRNA: 1 — MANE Select: NM_001004711 NM_001004711

CCDS: CCDS31564

Canonical transcript exons

ENST00000641962 — 3 exons

Exon	Start	End
ENSE00003811652	59514883	59520703
ENSE00003813657	59511539	59511746
ENSE00003814138	59514673	59514766

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 47.84.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	47.84	gold quality
sural nerve	UBERON:0015488	45.54	gold quality
ganglionic eminence	UBERON:0004023	43.65	gold quality
skeletal muscle tissue	UBERON:0001134	42.99	gold quality
muscle tissue	UBERON:0002385	42.58	gold quality
bone marrow	UBERON:0002371	42.12	gold quality
blood	UBERON:0000178	41.56	gold quality
cortical plate	UBERON:0005343	39.78	gold quality
bone marrow cell	CL:0002092	39.76	gold quality
leukocyte	CL:0000738	39.62	gold quality
monocyte	CL:0000576	39.01	gold quality
primary visual cortex	UBERON:0002436	38.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.56	gold quality
liver	UBERON:0002107	38.32	gold quality
calcaneal tendon	UBERON:0003701	38.27	gold quality
endometrium	UBERON:0001295	38.03	gold quality
smooth muscle tissue	UBERON:0001135	37.90	gold quality
vermiform appendix	UBERON:0001154	37.58	gold quality
corpus callosum	UBERON:0002336	37.22	gold quality
lymph node	UBERON:0000029	37.20	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
lower esophagus mucosa	UBERON:0035834	37.13	gold quality
granulocyte	CL:0000094	37.07	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
apex of heart	UBERON:0002098	35.60	gold quality
cortex of kidney	UBERON:0001225	35.53	gold quality
adrenal tissue	UBERON:0018303	35.03	gold quality
tonsil	UBERON:0002372	34.92	gold quality
placenta	UBERON:0001987	34.19	gold quality
cerebellum	UBERON:0002037	34.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.04

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4D9 — Q8NGE8 (reviewed: Q8NGE8)

Alternative names: Olfactory receptor OR11-253

All UniProt accessions (2): A0A126GVP8, Q8NGE8

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_001004711* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, sequence conflict 2, 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-Q8NGE8-F1	88.57	0.50

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, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11q12

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

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4D9	TMEM254	Q8TBM7	578
OR4D9	ZNF772	Q68DY9	503
OR4D9	RDM1	Q8NG50	456
OR4D9	DNAJC12	Q9UKB3	442
OR4D9	CMYA5	Q8N3K9	439
OR4D9	GPHB5	Q86YW7	439
OR4D9	FREM2	Q5SZK8	428
OR4D9	KRT75	O95678	425
OR4D9	FASTKD3	Q14CZ7	421
OR4D9	KLK8	O60259	419
OR4D9	MESP2	Q0VG99	417
OR4D9	STK31	Q9BXU1	417
OR4D9	CCDC57	Q2TAC2	414
OR4D9	SPARCL1	Q14515	395
OR4D9	NKAIN4	Q8IVV8	384

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

312 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59515237:G:GT	donor_gain	0.7700
11:59515322:G:GG	donor_gain	0.7600
11:59515237:G:T	donor_gain	0.7500
11:59515774:A:AG	acceptor_gain	0.7300
11:59515774:AC:A	acceptor_gain	0.7300
11:59515774:ACGCT:A	acceptor_gain	0.7300
11:59515318:A:AG	donor_gain	0.7200
11:59515321:A:AG	donor_gain	0.7000
11:59515775:C:G	acceptor_gain	0.7000
11:59515775:C:CA	acceptor_gain	0.6900
11:59515318:A:G	donor_gain	0.6800
11:59515565:ACAC:A	acceptor_gain	0.6800
11:59515766:T:G	acceptor_gain	0.6500
11:59515767:A:AG	acceptor_gain	0.6500
11:59515264:ATGGC:A	donor_gain	0.6400
11:59515567:AC:A	acceptor_gain	0.6400
11:59515568:C:CA	acceptor_gain	0.6400
11:59515680:T:G	acceptor_gain	0.6200
11:59515773:C:G	acceptor_gain	0.6200
11:59515775:CGCTG:C	acceptor_gain	0.6000
11:59515566:C:G	acceptor_gain	0.5900
11:59515577:T:A	acceptor_gain	0.5900
11:59515768:A:G	acceptor_gain	0.5900
11:59515772:A:AG	acceptor_gain	0.5900
11:59515053:TAC:T	donor_gain	0.5800
11:59515054:ACA:A	donor_gain	0.5800
11:59515772:ACAC:A	acceptor_gain	0.5800
11:59514979:C:CG	donor_gain	0.5700
11:59515196:G:GG	donor_gain	0.5700
11:59515573:ATCTT:A	acceptor_gain	0.5700

AlphaMissense

2056 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59514946:T:C	F12L	0.939
11:59514948:T:A	F12L	0.939
11:59514948:T:G	F12L	0.939
11:59515414:T:C	F168L	0.934
11:59515416:C:A	F168L	0.934
11:59515416:C:G	F168L	0.934
11:59515266:G:A	M118I	0.924
11:59515266:G:C	M118I	0.924
11:59515266:G:T	M118I	0.924
11:59515277:G:C	R122P	0.916
11:59515441:T:C	F177L	0.915
11:59515443:C:A	F177L	0.915
11:59515443:C:G	F177L	0.915
11:59515357:T:A	W149R	0.903
11:59515357:T:C	W149R	0.903
11:59515038:C:A	N42K	0.898
11:59515038:C:G	N42K	0.898
11:59515782:G:C	R290S	0.897
11:59515782:G:T	R290S	0.897
11:59515663:T:C	F251L	0.885
11:59515665:C:A	F251L	0.885
11:59515665:C:G	F251L	0.885
11:59515696:T:C	F262L	0.880
11:59515698:C:A	F262L	0.880
11:59515698:C:G	F262L	0.880
11:59515126:T:C	C72R	0.872
11:59515112:C:T	S67F	0.862
11:59515761:T:A	N283K	0.862
11:59515761:T:G	N283K	0.862
11:59514947:T:C	F12S	0.861

dbSNP variants (sampled 300 via entrez): RS1000413724 (11:59516726 T>G), RS1000670895 (11:59517277 G>A,T), RS1000803853 (11:59518344 G>T), RS1001210664 (11:59516984 G>A), RS1001402235 (11:59512725 G>A), RS1001574447 (11:59517988 C>G), RS1001807587 (11:59510568 GA>G,GAA), RS1002541430 (11:59511975 G>A), RS1002838169 (11:59516941 T>C), RS1002975443 (11:59516775 A>G), RS1003175355 (11:59515797 G>A,T), RS1003461079 (11:59509791 T>C), RS1003982342 (11:59512150 A>G), RS1004013347 (11:59511951 T>C), RS1004155244 (11:59520888 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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