OR8D1

Summary

OR8D1 (olfactory receptor family 8 subfamily D member 1, HGNC:8481) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8D1 (Q8WZ84). Odorant receptor (Potential).

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 283159 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001002917

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8481
Approved symbol	OR8D1
Name	olfactory receptor family 8 subfamily D member 1
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	OST004
Ensembl gene	ENSG00000196341
Ensembl biotype	protein_coding
Entrez	283159

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000357821, ENST00000641015, ENST00000641897

RefSeq mRNA: 1 — MANE Select: NM_001002917 NM_001002917

CCDS: CCDS31706

Canonical transcript exons

ENST00000641015 — 3 exons

Exon	Start	End
ENSE00003812301	124311572	124311676
ENSE00003812374	124302831	124310782
ENSE00003812920	124313721	124313949

Expression profiles

Bgee: expression breadth broad, 12 present calls, max score 76.00.

Top tissues by expression

230 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	76.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.29	gold quality
skin of hip	UBERON:0001554	55.09	gold quality
tendon of biceps brachii	UBERON:0008188	48.67	gold quality
sural nerve	UBERON:0015488	45.65	gold quality
buccal mucosa cell	CL:0002336	45.05	gold quality
amniotic fluid	UBERON:0000173	44.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
mucosa of transverse colon	UBERON:0004991	43.07	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
middle temporal gyrus	UBERON:0002771	42.29	gold quality
testis	UBERON:0000473	41.87	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
colonic epithelium	UBERON:0000397	41.21	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
medial globus pallidus	UBERON:0002477	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
globus pallidus	UBERON:0001875	40.36	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.88

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8d1	ENSMUSG00000047667
mus_musculus	Or8d1b	ENSMUSG00000058515
mus_musculus	Or8d23	ENSMUSG00000063221
rattus_norvegicus	Olr1271	ENSRNOG00000070374

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 8D1 — Q8WZ84 (reviewed: Q8WZ84)

Alternative names: OST004, Olfactory receptor 8D3, Olfactory receptor OR11-301, Olfactory receptor-like protein JCG9

All UniProt accessions (2): A0A126GVG6, Q8WZ84

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor (Potential). May be involved in taste perception.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in the tongue.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001002917* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 3, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WZ84-F1	90.91	0.75

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): 5, 186

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling 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, chr11q24, YOSHIMURA_MAPK8_TARGETS_UP, 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

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8D1	RD3L	P0DJH9	480
OR8D1	TCEAL3	Q969E4	433
OR8D1	TAS2R38	P59533	406
OR8D1	VCX2	Q9H322	398
OR8D1	CALHM2	Q9HA72	391
OR8D1	CHRM4	P08173	353
OR8D1	CHRM1	P11229	352
OR8D1	PITPNB	P48739	349
OR8D1	UBQLN3	Q9H347	329
OR8D1	SPEG	Q15772	324
OR8D1	KCTD11	Q693B1	311
OR8D1	RTP1	P59025	293
OR8D1	RHO	P08100	285
OR8D1	PSG9	Q00887	273
OR8D1	A0A096LNM5	A0A096LNM5	270

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NL08, O76000, O95221, P0C626, P0C629, P0C7N1, P0C7N5, P0DMU2, P0DN81, P30955, P58173, P58181, P59922, P70526, Q15617, Q15620, Q60882, Q60890, Q60893, Q60895, Q6IEU7, Q8NG81, Q8NGF4, Q8NGG4, Q8NGG6, Q8NGH3, Q8NGI9, Q8NGP6, Q8NGP8, Q8NGP9, Q8NGR5, Q8NGS4, Q8NGT0, Q8NGT1, Q8NGZ4, Q8NGZ9, Q8NH01, Q8NH04, Q8NH69, Q8VF76

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

155 predictions. Top by Δscore:

Variant	Effect	Δscore
11:124310158:C:T	acceptor_gain	0.7600
11:124310804:ATTAC:A	donor_loss	0.7400
11:124310805:TTA:T	donor_loss	0.7400
11:124310806:TA:T	donor_loss	0.7400
11:124310807:ACCT:A	donor_loss	0.7400
11:124310808:C:CA	donor_loss	0.7400
11:124310158:C:CT	acceptor_gain	0.7000
11:124310807:A:AC	donor_gain	0.6900
11:124310808:C:CC	donor_gain	0.6900
11:124310649:C:CT	donor_gain	0.6800
11:124310650:T:TT	donor_gain	0.6800
11:124310096:C:CC	acceptor_gain	0.6300
11:124310813:A:C	donor_gain	0.5800
11:124310810:TTA:T	donor_gain	0.5700
11:124310825:A:AC	donor_gain	0.5700
11:124310826:C:CC	donor_gain	0.5700
11:124310094:TG:T	acceptor_gain	0.5600
11:124310506:T:A	donor_gain	0.5600
11:124310060:TTGG:T	donor_gain	0.5000
11:124310113:A:C	acceptor_gain	0.5000
11:124310586:A:AC	donor_gain	0.5000
11:124310615:A:AC	donor_gain	0.5000
11:124310616:C:CC	donor_gain	0.5000
11:124310649:CTA:C	donor_gain	0.5000
11:124310808:CCT:C	donor_gain	0.5000
11:124310738:G:C	donor_gain	0.4900
11:124310591:A:C	donor_gain	0.4800
11:124310826:CTGCT:C	donor_gain	0.4800
11:124310826:CTG:C	donor_gain	0.4700
11:124310658:C:CT	donor_gain	0.4600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000232883 (11:124306049 A>T), RS1000244174 (11:124306417 A>G), RS1000339299 (11:124315003 G>A), RS1000443925 (11:124315218 G>A), RS1000672794 (11:124313667 A>G), RS1000767257 (11:124313844 A>C), RS1000967685 (11:124311118 A>G), RS1001300516 (11:124315435 T>A,C), RS1001578565 (11:124307255 T>C,G), RS1001835440 (11:124305988 A>C,G), RS1001860750 (11:124309426 C>A), RS1001904803 (11:124307643 A>G), RS1002342254 (11:124312454 T>C), RS1002372831 (11:124306326 T>C), RS1002437049 (11:124312803 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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