OR8D2

Summary

OR8D2 (olfactory receptor family 8 subfamily D member 2, HGNC:8482) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8D2 (Q9GZM6). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 283160 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 60 total — 1 pathogenic
• MANE Select transcript: NM_001002918

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8482
Approved symbol	OR8D2
Name	olfactory receptor family 8 subfamily D member 2
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279116
Ensembl biotype	protein_coding
Entrez	283160

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624618

RefSeq mRNA: 1 — MANE Select: NM_001002918 NM_001002918

Canonical transcript exons

ENST00000624618 — 1 exons

Exon	Start	End
ENSE00001411434	124319262	124320197

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 85.03.

Top tissues by expression

245 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	85.03	gold quality
buccal mucosa cell	CL:0002336	67.35	gold quality
superior surface of tongue	UBERON:0007371	43.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	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
tongue	UBERON:0001723	41.12	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	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
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
mammary duct	UBERON:0001765	40.18	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8d2	ENSMUSG00000062103
mus_musculus	Or8d2b	ENSMUSG00000064333

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 8D2 — Q9GZM6 (reviewed: Q9GZM6)

Alternative names: Olfactory receptor OR11-303, Olfactory receptor-like protein JCG2

All UniProt accessions (2): Q9GZM6, A0A126GVG3

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_001002918* (*=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, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZM6-F1	88.52	0.61

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: 22 (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, 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, GSE13485_DAY1_VS_DAY7_YF17D_VACCINE_PBMC_UP, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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

196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8D2	ZNF417	Q8TAU3	624
OR8D2	GLRA2	P23416	509
OR8D2	GRIP2	Q9C0E4	507
OR8D2	ZNF546	Q86UE3	488
OR8D2	GSTZ1	O43708	472
OR8D2	SULT1C3	Q6IMI6	456
OR8D2	MAP4	P27816	443
OR8D2	ADD1	P35611	440
OR8D2	MTA1	Q13330	433
OR8D2	LRRK2	Q5S007	400
OR8D2	FABP6	P51161	378
OR8D2	AKAP12	Q02952	366
OR8D2	MUSK	O15146	355
OR8D2	MT1A	P04731	329
OR8D2	NPBWR2	P48146	329

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ALB	CDC45	psi-mi:“MI:0914”(association)	0.350
IGHG1	PDPK1	psi-mi:“MI:0914”(association)	0.350
ALB	SH3BP5	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): OR8D2 (Affinity Capture-MS)

ESM2 similar proteins: A6NL26, O14581, O76100, O95006, P34986, P37068, P37070, P37071, P58173, Q5TZ20, Q60890, Q60893, Q6IEU7, Q8N146, Q8NGA1, Q8NGE9, Q8NGG1, Q8NGG4, Q8NGI9, Q8NGL2, Q8NGP8, Q8NGQ1, Q8NGQ6, Q8NGS0, Q8NGZ4, Q8NGZ9, Q8NH01, Q8NH04, Q8NHC8, Q8VEW5, Q8VEZ0, Q8VF65, Q8VF66, Q8VF76, Q8VFD2, Q8VFL9, Q8VFM9, Q8VFX2, Q8VG02, Q8VG05

Diamond homologs: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34983, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q60895, Q6IEU7, Q6IF36, Q6UXT6, Q7TR96, Q7TS48, Q8N127, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGE7, Q8NGF4, Q8NGF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	57
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	Pathogenic

SpliceAI

252 predictions. Top by Δscore:

Variant	Effect	Δscore
11:124320089:C:CT	donor_gain	0.8300
11:124320095:ATATT:A	donor_gain	0.7200
11:124320021:CA:C	donor_gain	0.7100
11:124320099:T:TA	donor_gain	0.7100
11:124320168:AGC:A	donor_gain	0.6800
11:124320080:CCA:C	donor_gain	0.6500
11:124319414:GCTT:G	acceptor_gain	0.6400
11:124319413:GGCTT:G	acceptor_gain	0.5900
11:124320066:G:A	donor_gain	0.5900
11:124320017:A:AC	donor_gain	0.5700
11:124319415:CTT:C	acceptor_gain	0.5500
11:124320081:CAC:C	donor_gain	0.5500
11:124320090:C:CT	donor_gain	0.5500
11:124320168:AG:A	donor_gain	0.5500
11:124320169:G:C	donor_gain	0.5500
11:124319873:T:TC	acceptor_gain	0.5400
11:124320080:C:CT	donor_gain	0.5400
11:124319326:C:CC	acceptor_gain	0.5300
11:124319862:GCCTT:G	acceptor_gain	0.5300
11:124319863:CCTTC:C	acceptor_gain	0.5300
11:124319864:CTT:C	acceptor_gain	0.5300
11:124319911:T:A	donor_gain	0.5300
11:124319527:C:CC	acceptor_gain	0.5200
11:124319416:T:C	acceptor_gain	0.5100
11:124319867:C:CC	acceptor_gain	0.5100
11:124319322:CAGG:C	acceptor_gain	0.5000
11:124319832:A:C	donor_gain	0.5000
11:124320022:A:AC	donor_gain	0.5000
11:124320023:C:CC	donor_gain	0.5000
11:124320075:C:A	donor_gain	0.5000

AlphaMissense

2033 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:124320162:A:C	F12L	0.791
11:124320162:A:T	F12L	0.791
11:124320164:A:G	F12L	0.791
11:124319694:G:C	F168L	0.761
11:124319694:G:T	F168L	0.761
11:124319696:A:G	F168L	0.761
11:124319664:A:C	F178L	0.658
11:124319664:A:T	F178L	0.658
11:124319666:A:G	F178L	0.658
11:124320105:G:C	F31L	0.657
11:124320105:G:T	F31L	0.657
11:124320107:A:G	F31L	0.657
11:124319943:A:C	F85L	0.612
11:124319943:A:T	F85L	0.612
11:124319945:A:G	F85L	0.612
11:124319367:G:C	F277L	0.611
11:124319367:G:T	F277L	0.611
11:124319369:A:G	F277L	0.611
11:124319427:G:C	F257L	0.588
11:124319427:G:T	F257L	0.588
11:124319429:A:G	F257L	0.588
11:124320114:G:C	F28L	0.586
11:124320114:G:T	F28L	0.586
11:124320116:A:G	F28L	0.586

dbSNP variants (sampled 300 via entrez): RS1000282321 (11:124321919 G>T), RS1000649796 (11:124320072 G>T), RS1001193652 (11:124321780 G>T), RS1001646218 (11:124322172 T>C), RS1002293292 (11:124318795 A>C), RS1003152514 (11:124318774 A>C,T), RS1004184064 (11:124318838 A>G), RS1006090622 (11:124320940 GAAGT>G), RS1007077854 (11:124320845 T>C), RS1009419315 (11:124319967 A>G), RS1010372029 (11:124321762 G>T), RS1012014002 (11:124319128 T>C), RS1012142404 (11:124320543 A>G), RS1012890444 (11:124321978 T>C), RS1013218542 (11:124320411 C>T)

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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

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