OR2B8

Summary

OR2B8 (olfactory receptor family 2 subfamily B member 8 (gene/pseudogene), HGNC:13968) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2B8 (P59922). 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 65944 — RefSeq curated summary.

At a glance

• GWAS associations: 1

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13968
Approved symbol	OR2B8
Name	olfactory receptor family 2 subfamily B member 8 (gene/pseudogene)
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-29P
Ensembl gene	ENSG00000182477
Ensembl biotype	protein_coding
Entrez	65944

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000432841

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000432841 — 1 exons

Exon	Start	End
ENSE00001771378	28053228	28054165

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 53.43.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	53.43	gold quality
bone marrow cell	CL:0002092	39.77	silver quality
right lobe of thyroid gland	UBERON:0001119	38.50	gold quality
granulocyte	CL:0000094	37.93	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
mucosa of transverse colon	UBERON:0004991	36.87	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.30	gold quality
primary visual cortex	UBERON:0002436	36.17	silver quality
endometrium	UBERON:0001295	36.10	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adrenal tissue	UBERON:0018303	34.82	gold quality
endocervix	UBERON:0000458	34.50	gold quality
metanephros cortex	UBERON:0010533	34.03	silver quality
thyroid gland	UBERON:0002046	33.61	silver quality
bone marrow	UBERON:0002371	33.59	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
ovary	UBERON:0000992	33.07	silver quality
right adrenal gland	UBERON:0001233	32.99	silver quality
left lobe of thyroid gland	UBERON:0001120	32.98	gold quality
body of pancreas	UBERON:0001150	32.60	silver quality
left ovary	UBERON:0002119	32.51	silver quality
fallopian tube	UBERON:0003889	32.16	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
kidney	UBERON:0002113	32.07	gold quality
rectum	UBERON:0001052	31.99	gold quality
pituitary gland	UBERON:0000007	31.70	silver quality
adrenal gland	UBERON:0002369	31.51	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Olfactory receptor 2B8 — P59922 (reviewed: P59922)

Alternative names: Hs6M1-29P

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. This gene is a pseudogene on the reference genome but has been found to be protein coding in some individuals.

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

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-P59922-F1	88.33	0.68

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 (3): 5, 195, 265

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (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_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, FOXN3_TARGET_GENES, HMGA1_TARGET_GENES, RBM15_TARGET_GENES, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr6p22

GO Biological Process (1): detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (1): plasma membrane (GO:0005886)

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
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

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

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000836407 (6:28056112 T>C), RS1001952085 (6:28055757 T>C), RS1002005701 (6:28055238 G>A), RS1002475904 (6:28053023 C>T), RS1003741889 (6:28054419 T>G), RS1004419183 (6:28054830 A>C,G), RS1005695702 (6:28053783 C>T), RS1006027985 (6:28055986 G>A), RS1006854489 (6:28053045 C>T), RS1011504913 (6:28052730 A>G), RS1011608109 (6:28053401 T>C), RS1011617926 (6:28053130 G>A), RS1011838683 (6:28054126 G>A), RS1011953108 (6:28054469 A>T), RS1012060358 (6:28053005 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

1 associations (top):

Study	Trait	p-value
GCST007201_212	Schizophrenia	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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