OR12D1

Summary

OR12D1 (olfactory receptor family 12 subfamily D member 1 (gene/pseudogene), HGNC:8177) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 12D1 (P0DN82). 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. 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 26530 — RefSeq curated summary.

At a glance

• GWAS associations: 1

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8177
Approved symbol	OR12D1
Name	olfactory receptor family 12 subfamily D member 1 (gene/pseudogene)
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-19
Ensembl gene	ENSG00000251608
Ensembl biotype	protein_coding
Entrez	26530

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000514827

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000514827 — 2 exons

Exon	Start	End
ENSE00002047954	29417278	29418905
ENSE00003812640	29414928	29415011

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 38.13.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	38.13	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
granulocyte	CL:0000094	35.66	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
right uterine tube	UBERON:0001302	32.85	gold quality
bone marrow	UBERON:0002371	32.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
liver	UBERON:0002107	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.06	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.85	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
monocyte	CL:0000576	26.43	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.12	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
cortex of kidney	UBERON:0001225	25.46	gold quality
Ammon’s horn	UBERON:0001954	25.38	gold quality
muscle of leg	UBERON:0001383	24.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

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), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 12D1 — P0DN82 (reviewed: P0DN82)

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. Segregating pseudogene, locus showing both intact and pseudogene forms in the population. A deletion of 16 nucleotides at position Ser-186 in the gene coding for this protein is responsible for functional diversity, producing a pseudogene.

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

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DN82-F1	86.72	0.51

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): 95–177

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, RAO_BOUND_BY_SALL4_ISOFORM_A, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr6p22, GOBP_NERVOUS_SYSTEM_PROCESS

GO Biological Process (1): 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)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
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

0 interactions, top by confidence (×1000):

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

238 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29416133:C:CT	donor_gain	0.7400
6:29416134:T:TT	donor_gain	0.7400
6:29416982:T:C	acceptor_gain	0.7400
6:29417319:G:GT	donor_gain	0.7200
6:29418037:T:G	acceptor_gain	0.7200
6:29418045:AT:A	acceptor_gain	0.7000
6:29418046:T:G	acceptor_gain	0.6900
6:29417461:T:A	acceptor_gain	0.6800
6:29418032:A:AG	acceptor_gain	0.6600
6:29418038:A:AG	acceptor_gain	0.6600
6:29418042:A:AG	acceptor_gain	0.6600
6:29418052:A:AG	acceptor_gain	0.6600
6:29418053:G:GG	acceptor_gain	0.6600
6:29417497:GC:G	donor_gain	0.6500
6:29417918:A:AG	acceptor_gain	0.6500
6:29418033:C:G	acceptor_gain	0.6500
6:29418042:ATCAT:A	acceptor_gain	0.6500
6:29418050:TCAGG:T	acceptor_loss	0.6500
6:29418051:CAGGG:C	acceptor_loss	0.6500
6:29418016:T:G	acceptor_gain	0.6400
6:29417396:G:GT	donor_gain	0.6300
6:29417446:C:CG	donor_gain	0.6300
6:29418136:G:GC	acceptor_gain	0.6300
6:29417560:G:GT	donor_gain	0.6200
6:29418036:A:AG	acceptor_gain	0.6100
6:29418051:CAGG:C	acceptor_gain	0.6100
6:29417396:G:T	donor_gain	0.5900
6:29417502:ACACT:A	donor_gain	0.5900
6:29417832:C:G	donor_gain	0.5900
6:29418019:A:AG	acceptor_gain	0.5900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000095897 (6:29416734 G>A), RS1000446456 (6:29417096 A>G), RS1002385133 (6:29418578 T>C), RS1002877590 (6:29415217 A>G), RS1004847587 (6:29418624 A>C), RS1005482764 (6:29416154 A>G), RS1007235008 (6:29416076 A>G), RS1007635597 (6:29416333 A>G), RS1008144333 (6:29416947 AAG>A), RS1010051575 (6:29417886 C>G), RS1010683434 (6:29415462 G>T), RS1010713221 (6:29415080 T>C), RS1011176475 (6:29418611 T>G), RS1011985 (6:29417995 G>C,T), RS1013087909 (6:29415287 G>A,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

1 associations (top):

Study	Trait	p-value
GCST002875_49	Diisocyanate-induced asthma	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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