OR12D2

Summary

OR12D2 (olfactory receptor family 12 subfamily D member 2, HGNC:8178) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 12D2 (P58182). 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 26529 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_013936

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8178
Approved symbol	OR12D2
Name	olfactory receptor family 12 subfamily D member 2
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-20
Ensembl gene	ENSG00000280236
Ensembl biotype	protein_coding
Entrez	26529

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000623183, ENST00000642051

RefSeq mRNA: 1 — MANE Select: NM_013936 NM_013936

Canonical transcript exons

ENST00000377140 — 0 exons

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 37.41.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	37.41	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	37.17	gold quality
apex of heart	UBERON:0002098	36.89	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
right uterine tube	UBERON:0001302	34.64	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hypothalamus	UBERON:0001898	32.16	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
Ammon’s horn	UBERON:0001954	30.86	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.78	gold quality
fallopian tube	UBERON:0003889	29.25	silver quality
caudate nucleus	UBERON:0001873	29.24	gold quality
leukocyte	CL:0000738	28.72	gold quality
liver	UBERON:0002107	28.32	gold quality
monocyte	CL:0000576	28.19	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
superior frontal gyrus	UBERON:0002661	27.03	gold quality
urinary bladder	UBERON:0001255	26.83	gold quality
temporal lobe	UBERON:0001871	26.63	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
amygdala	UBERON:0001876	26.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

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 12D2 — P58182 (reviewed: P58182)

Alternative names: Hs6M1-20, Olfactory receptor OR6-28

All UniProt accessions (2): A0A126GV87, P58182

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_039224* (*=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 (26 total): topological domain 8, sequence variant 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-P58182-F1	85.51	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): 95–187

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 33 (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_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, WANG_METASTASIS_OF_BREAST_CANCER_ESR1_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, PTEN_DN.V2_UP, REACTOME_OLFACTORY_SIGNALING_PATHWAY

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
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
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

354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR12D2	MAGEB6B	A0A0J9YX57	507
OR12D2	KRTAP10-2	P60368	473
OR12D2	KRTAP10-8	P60410	447
OR12D2	KRTAP12-2	P59991	447
OR12D2	TTC16	Q8NEE8	424
OR12D2	TAS2R41	P59536	370
OR12D2	SAPCD1	Q5SSQ6	360
OR12D2	SLX9	Q9NSI2	355
OR12D2	TMEM185B	Q9H7F4	354
OR12D2	MUC22	E2RYF6	324
OR12D2	CDC14C	A4D256	320
OR12D2	TSPEAR	Q8WU66	316
OR12D2	ZKSCAN8	Q15776	316
OR12D2	PXDC1	Q5TGL8	314
OR12D2	GPR108	Q9NPR9	309

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

336 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29396737:T:TA	acceptor_gain	0.8700
6:29396738:G:A	acceptor_gain	0.8100
6:29396740:G:C	acceptor_gain	0.7600
6:29396577:TTTGG:T	donor_gain	0.7000
6:29397292:G:GG	donor_gain	0.7000
6:29396779:T:TA	acceptor_gain	0.6900
6:29396696:A:AG	acceptor_gain	0.6800
6:29396697:G:GG	acceptor_gain	0.6800
6:29396737:TGGG:T	acceptor_gain	0.6600
6:29397291:A:AG	donor_gain	0.6500
6:29397354:A:AG	acceptor_gain	0.6500
6:29397473:T:G	acceptor_gain	0.6500
6:29396922:ACACT:A	donor_gain	0.6300
6:29397284:GCTAC:G	donor_gain	0.6200
6:29396643:G:GT	donor_gain	0.6100
6:29396584:G:GT	donor_gain	0.6000
6:29396736:TTGGG:T	acceptor_gain	0.6000
6:29397023:G:GT	donor_gain	0.6000
6:29396881:T:TA	acceptor_gain	0.5900
6:29397353:C:G	acceptor_gain	0.5900
6:29396589:ACAAC:A	donor_gain	0.5800
6:29396697:GT:G	acceptor_gain	0.5700
6:29396923:C:G	donor_gain	0.5700
6:29397231:GATAT:G	donor_gain	0.5700
6:29396595:G:GG	donor_gain	0.5600
6:29396695:A:C	acceptor_gain	0.5600
6:29396737:TGGGA:T	acceptor_gain	0.5600
6:29396738:GGGAG:G	acceptor_gain	0.5600
6:29397395:GCTCT:G	donor_gain	0.5600
6:29396594:A:AG	donor_gain	0.5500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000868675 (6:29393985 T>C), RS1001900731 (6:29393719 T>C), RS1001919409 (6:29395033 C>T), RS1004463002 (6:29396710 C>A,T), RS1004811185 (6:29394769 A>G), RS1006601415 (6:29398422 A>G), RS1008325996 (6:29395583 C>T), RS1008646126 (6:29394567 T>C), RS1008661300 (6:29394092 G>C), RS1009212061 (6:29394320 A>G), RS1009264543 (6:29394030 T>C), RS1011327417 (6:29397718 T>A,C), RS1011417843 (6:29396408 T>G), RS1013153890 (6:29397591 G>A), RS1014187214 (6:29395729 T>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

22 associations (top):

Study	Trait	p-value
GCST001251_5	Pulmonary function	1.000000e-07
GCST003518_61	Daytime sleep phenotypes	4.000000e-07
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST005541_7	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	1.000000e-20
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST008972_247	Urate levels	2.000000e-12
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004314	forced expiratory volume
EFO:0007828	daytime rest measurement
EFO:0004531	urate measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Zoledronic Acid	increases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	increases expression	1
Rotenone	increases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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