OR8B12

Summary

OR8B12 (olfactory receptor family 8 subfamily B member 12, HGNC:15307) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8B12 (Q8NGG6). 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 219858 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_001005195

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15307
Approved symbol	OR8B12
Name	olfactory receptor family 8 subfamily B member 12
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170953
Ensembl biotype	protein_coding
Entrez	219858

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000306842, ENST00000641958

RefSeq mRNA: 1 — MANE Select: NM_001005195 NM_001005195

CCDS: CCDS31711

Canonical transcript exons

ENST00000306842 — 1 exons

Exon	Start	End
ENSE00001133715	124542722	124543654

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 82.48.

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	82.48	gold quality
bone marrow cell	CL:0002092	38.16	gold quality
sural nerve	UBERON:0015488	37.35	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
left testis	UBERON:0004533	33.29	gold quality
testis	UBERON:0000473	33.13	gold quality
bone marrow	UBERON:0002371	32.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
monocyte	CL:0000576	31.86	silver quality
leukocyte	CL:0000738	31.48	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
right testis	UBERON:0004534	30.50	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.37	gold quality
liver	UBERON:0002107	28.32	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.55	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.20	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
ectocervix	UBERON:0012249	25.37	gold quality
uterine cervix	UBERON:0000002	25.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.28

Regulation

Is transcription factor: no

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8b12b	ENSMUSG00000058628
mus_musculus	Or8b12	ENSMUSG00000063350
mus_musculus	Or8b12c	ENSMUSG00000066750
rattus_norvegicus	Or8b12c	ENSRNOG00000011563
rattus_norvegicus		ENSRNOG00000071773
rattus_norvegicus		ENSRNOG00000079582
rattus_norvegicus		ENSRNOG00000080646
rattus_norvegicus	Or8b12	ENSRNOG00000081224
rattus_norvegicus	Olr1198	ENSRNOG00000091211

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8B12 — Q8NGG6 (reviewed: Q8NGG6)

Alternative names: Olfactory receptor OR11-317

All UniProt accessions (2): A0A126GWS7, Q8NGG6

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_001005195* (*=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, glycosylation site 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGG6-F1	88.97	0.64

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): 96–188

Glycosylation sites (3): 5, 164, 189

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8B12	KRTAP19-8	Q3LI54	609
OR8B12	SMIM19	Q96E16	571
OR8B12	KRTAP5-7	Q6L8G8	507
OR8B12	KRTAP5-11	Q6L8G4	437
OR8B12	TBC1D8B	Q0IIM8	433
OR8B12	KRTAP5-5	Q701N2	432
OR8B12	ANKMY2	Q8IV38	419
OR8B12	C10orf90	Q96M02	404
OR8B12	TBATA	Q96M53	390
OR8B12	DENND5B	Q6ZUT9	379
OR8B12	EME2	A4GXA9	369
OR8B12	KIF12	Q96FN5	360
OR8B12	CPNE8	Q86YQ8	358
OR8B12	SRSF8	Q9BRL6	357
OR8B12	PHACTR4	Q8IZ21	354

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: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34985, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q6UXT6, Q7TS48, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

122 predictions. Top by Δscore:

Variant	Effect	Δscore
11:124543540:C:CT	donor_gain	0.8300
11:124543125:A:C	acceptor_gain	0.8200
11:124543608:AAG:A	donor_gain	0.7800
11:124543480:A:AC	donor_gain	0.7700
11:124543481:C:CC	donor_gain	0.7700
11:124543482:A:C	donor_gain	0.7700
11:124543543:CGG:C	donor_gain	0.7700
11:124543477:A:AC	donor_gain	0.7200
11:124543556:G:C	donor_gain	0.6700
11:124543101:T:TG	acceptor_gain	0.6600
11:124543103:A:T	acceptor_gain	0.6500
11:124543541:CACGG:C	donor_gain	0.6300
11:124543535:C:A	donor_gain	0.6200
11:124543547:G:T	donor_gain	0.6100
11:124543122:CACA:C	acceptor_gain	0.5800
11:124543003:C:CT	acceptor_gain	0.5700
11:124543004:A:C	acceptor_gain	0.5700
11:124543102:C:CT	acceptor_gain	0.5700
11:124543098:AGCTC:A	acceptor_gain	0.5600
11:124543124:CA:C	acceptor_gain	0.5500
11:124543236:CACA:C	donor_loss	0.5400
11:124543237:ACACC:A	donor_loss	0.5400
11:124543238:CACC:C	donor_loss	0.5400
11:124543240:C:CT	donor_loss	0.5400
11:124543240:CCTGG:C	donor_gain	0.5400
11:124543099:GCTCA:G	acceptor_gain	0.5300
11:124543125:A:AC	acceptor_gain	0.5200
11:124543542:A:T	donor_gain	0.4800
11:124543537:C:T	donor_gain	0.4700
11:124543100:CTC:C	acceptor_gain	0.4600

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:124543622:A:C	F11L	0.909
11:124543622:A:T	F11L	0.909
11:124543624:A:G	F11L	0.909
11:124543154:G:C	F167L	0.854
11:124543154:G:T	F167L	0.854
11:124543156:A:G	F167L	0.854
11:124543127:G:C	F176L	0.822
11:124543127:G:T	F176L	0.822
11:124543129:A:G	F176L	0.822
11:124542785:G:C	S290R	0.787
11:124542785:G:T	S290R	0.787
11:124542787:T:G	S290R	0.787
11:124543293:C:G	R121P	0.768
11:124543623:A:G	F11S	0.766
11:124542902:A:C	F251L	0.763
11:124542902:A:T	F251L	0.763
11:124542904:A:G	F251L	0.763
11:124543304:C:A	M117I	0.746
11:124543304:C:G	M117I	0.746
11:124543304:C:T	M117I	0.746
11:124543565:A:C	F30L	0.741
11:124543565:A:T	F30L	0.741
11:124543567:A:G	F30L	0.741
11:124542950:T:A	K235N	0.725
11:124542950:T:G	K235N	0.725
11:124543352:G:C	F101L	0.724
11:124543352:G:T	F101L	0.724
11:124543354:A:G	F101L	0.724
11:124543532:G:C	N41K	0.724
11:124543532:G:T	N41K	0.724

dbSNP variants (sampled 300 via entrez): RS1000166250 (11:124545474 A>G), RS1001755655 (11:124544143 A>C), RS1002469831 (11:124543814 G>C), RS1002797324 (11:124542481 G>T), RS1003571367 (11:124542776 G>A,C,T), RS1004801258 (11:124542790 A>C), RS1008280165 (11:124545149 C>A,T), RS1008376912 (11:124545513 G>A), RS1009844098 (11:124545436 T>C), RS1010320364 (11:124545573 A>G), RS1010663632 (11:124544063 G>A,C), RS1011072474 (11:124543752 T>G), RS1011852363 (11:124542448 T>C), RS1012746902 (11:124542761 A>G), RS1013908226 (11:124544219 A>G)

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
CGP 52608	affects binding, increases reaction	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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