OR12D3

Summary

OR12D3 (olfactory receptor family 12 subfamily D member 3, HGNC:13963) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 12D3 (Q9UGF7). 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 81797 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_030959

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13963
Approved symbol	OR12D3
Name	olfactory receptor family 12 subfamily D member 3
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-27
Ensembl gene	ENSG00000112462
Ensembl biotype	protein_coding
Entrez	81797

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000396806

RefSeq mRNA: 1 — MANE Select: NM_030959 NM_030959

CCDS: CCDS4658

Canonical transcript exons

ENST00000396806 — 1 exons

Exon	Start	End
ENSE00001767835	29373423	29375291

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 81.64.

Top tissues by expression

131 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	81.64	gold quality
colonic epithelium	UBERON:0000397	41.09	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
monocyte	CL:0000576	33.87	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
leukocyte	CL:0000738	33.30	gold quality
bone marrow	UBERON:0002371	32.90	gold quality
mucosa of stomach	UBERON:0001199	32.48	gold quality
muscle tissue	UBERON:0002385	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
adrenal tissue	UBERON:0018303	31.64	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.27	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.80	gold quality
calcaneal tendon	UBERON:0003701	28.60	gold quality
endometrium	UBERON:0001295	28.21	gold quality
duodenum	UBERON:0002114	28.14	gold quality
smooth muscle tissue	UBERON:0001135	27.62	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	27.48	gold quality
primary visual cortex	UBERON:0002436	27.48	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	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

miRNA regulators (miRDB)

61 targeting OR12D3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or12d17	ENSMUSG00000029184
rattus_norvegicus	Or12d17	ENSRNOG00000073887

Paralogs (130): OR1I1 (ENSG00000094661), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 12D3 — Q9UGF7 (reviewed: Q9UGF7)

Alternative names: Hs6M1-27, Olfactory receptor OR6-27

All UniProt accessions (2): D2XT27, Q9UGF7

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_112221* (*=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 (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UGF7-F1	81.77	0.30

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: 37 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, 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, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, LHX9_TARGET_GENES, MIR651_3P, MIR6515_3P

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

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR12D3	ZNF311	Q5JNZ3	579
OR12D3	TRIM15	Q9C019	433
OR12D3	BBOF1	Q8ND07	432
OR12D3	TRIM40	Q6P9F5	420
OR12D3	MUC22	E2RYF6	412
OR12D3	ANP32D	O95626	405
OR12D3	GPX5	O75715	405
OR12D3	GNL1	P36915	401
OR12D3	GTF3C6	Q969F1	391
OR12D3	TCF19	Q9Y242	391
OR12D3	CCHCR1	Q8TD31	388
OR12D3	GTF2H4	Q92759	387
OR12D3	PPT2	Q9UMR5	387
OR12D3	MUC21	Q5SSG8	385
OR12D3	ID4	P47928	384

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR12D3	GAPDHS	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): ALDOB (Affinity Capture-MS), MARCH5 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

148 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29375149:CCA:C	donor_gain	0.9200
6:29375151:A:AC	donor_gain	0.9000
6:29374369:T:TA	donor_gain	0.8600
6:29374368:TTCC:T	donor_gain	0.8400
6:29374369:TCCT:T	donor_gain	0.8400
6:29374607:GTTCT:G	acceptor_gain	0.8300
6:29374608:TTCTT:T	acceptor_gain	0.8300
6:29374404:T:TA	donor_gain	0.8100
6:29374609:TCTT:T	acceptor_gain	0.7800
6:29374534:C:CT	acceptor_gain	0.7200
6:29374285:A:C	donor_gain	0.7100
6:29375287:TTGCT:T	acceptor_gain	0.6900
6:29374333:AGT:A	donor_gain	0.6600
6:29374371:C:T	donor_gain	0.6600
6:29375121:G:C	donor_gain	0.6600
6:29375147:A:AT	donor_gain	0.6600
6:29374283:A:AC	donor_gain	0.6500
6:29374284:C:CC	donor_gain	0.6500
6:29374372:T:TT	donor_gain	0.6400
6:29374279:T:A	donor_gain	0.6000
6:29374325:C:A	donor_gain	0.5900
6:29375120:A:AC	donor_gain	0.5900
6:29374535:A:C	acceptor_gain	0.5600
6:29374365:AACTT:A	donor_gain	0.5500
6:29374366:ACTT:A	donor_gain	0.5500
6:29374367:CTTC:C	donor_gain	0.5500
6:29374610:CTT:C	acceptor_gain	0.5500
6:29374873:A:T	donor_gain	0.5400
6:29375290:CT:C	acceptor_gain	0.5200
6:29374607:GTTC:G	acceptor_gain	0.5100

AlphaMissense

2095 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29374790:A:C	F166L	0.738
6:29374790:A:T	F166L	0.738
6:29374792:A:G	F166L	0.738
6:29375258:A:C	F10L	0.696
6:29375258:A:T	F10L	0.696
6:29375260:A:G	F10L	0.696
6:29374925:A:C	F121L	0.695
6:29374925:A:T	F121L	0.695
6:29374927:A:G	F121L	0.695
6:29374622:G:C	F222L	0.681
6:29374622:G:T	F222L	0.681
6:29374624:A:G	F222L	0.681
6:29374763:G:C	F175L	0.629
6:29374763:G:T	F175L	0.629
6:29374765:A:G	F175L	0.629
6:29375111:A:C	F59L	0.614
6:29375111:A:T	F59L	0.614
6:29375113:A:G	F59L	0.614
6:29375012:A:C	F92L	0.607
6:29375012:A:T	F92L	0.607
6:29375014:A:G	F92L	0.607
6:29374982:G:C	F102L	0.600
6:29374982:G:T	F102L	0.600
6:29374984:A:G	F102L	0.600
6:29374838:G:C	S150R	0.582
6:29374838:G:T	S150R	0.582
6:29374840:T:G	S150R	0.582
6:29375108:A:C	F60L	0.582
6:29375108:A:T	F60L	0.582
6:29375110:A:G	F60L	0.582

dbSNP variants (sampled 300 via entrez): RS1001331589 (6:29373140 G>A), RS1002390525 (6:29375288 T>G), RS1003365756 (6:29377246 G>C), RS1003398706 (6:29376902 A>G), RS1004087313 (6:29376617 C>T), RS1006960044 (6:29374270 C>T), RS1007265237 (6:29372944 C>A,G,T), RS1008320384 (6:29376400 A>G), RS1008376343 (6:29375766 C>A,T), RS1010170013 (6:29374571 A>G), RS1010252659 (6:29376075 A>C), RS1010496190 (6:29373558 A>C), RS1010617561 (6:29374208 A>G), RS1010832891 (6:29377279 A>G), RS1011209487 (6:29375741 A>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

27 associations (top):

Study	Trait	p-value
GCST001854_3	Retinopathy in non-diabetics	3.000000e-06
GCST002194_1	Social communication problems	3.000000e-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_176	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
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
GCST004521_7	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_91	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST005541_7	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	1.000000e-20
GCST007201_361	Schizophrenia	7.000000e-25
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST010083_299	Hemoglobin levels	2.000000e-38
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
GCST011766_14	Chronic obstructive pulmonary disease	3.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005427	social communication impairment
EFO:0007828	daytime rest measurement
EFO:0004509	hemoglobin 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
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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