OR51A2

Summary

OR51A2 (olfactory receptor family 51 subfamily A member 2, HGNC:14764) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51A2 (Q8NGJ7). 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 401667 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001004748

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14764
Approved symbol	OR51A2
Name	olfactory receptor family 51 subfamily A member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205496
Ensembl biotype	protein_coding
Entrez	401667

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380371

RefSeq mRNA: 1 — MANE Select: NM_001004748 NM_001004748

CCDS: CCDS31368

Canonical transcript exons

ENST00000380371 — 1 exons

Exon	Start	End
ENSE00001798291	4954772	4955713

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	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
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.41	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.84	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
leukocyte	CL:0000738	26.47	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
monocyte	CL:0000576	26.36	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
blood	UBERON:0000178	25.79	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.18	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.77

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409)

Protein

Protein identifiers

Olfactory receptor 51A2 — Q8NGJ7 (reviewed: Q8NGJ7)

All UniProt accessions (2): A0A126GWD5, Q8NGJ7

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_001004748* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ7-F1	87.46	0.56

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): 99–191

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 21 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, CAMPS_COLON_CANCER_COPY_NUMBER_DN, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, HBZ_TARGET_GENES

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), 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), signaling receptor activity (GO:0038023)

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
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	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
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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51A2	PRR35	P0CG20	669
OR51A2	PRAMEF20	Q5VT98	545
OR51A2	LCE3C	Q5T5A8	505
OR51A2	SAAL1	Q96ER3	418
OR51A2	UGT2B28	Q9BY64	417
OR51A2	ZNF708	P17019	399
OR51A2	TANGO6	Q9C0B7	397
OR51A2	M0QY95	M0QY95	395
OR51A2	UGT2B17	O75795	377
OR51A2	GOLGA6L2	Q8N9W4	369
OR51A2	ERICH3	Q5RHP9	367
OR51A2	CFAP52	Q8N1V2	366
OR51A2	ISOC1	Q96CN7	365
OR51A2	FASTKD1	Q53R41	364
OR51A2	AMER2	Q8N7J2	349

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SHANK3	IGKV3D-15	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): OR51A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

247 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4955273:C:A	donor_gain	0.8000
11:4955272:T:A	donor_gain	0.7000
11:4955158:CATC:C	acceptor_gain	0.6900
11:4955464:A:C	donor_gain	0.6900
11:4955051:CAGGG:C	acceptor_gain	0.6800
11:4955160:TC:T	acceptor_gain	0.6500
11:4955161:CC:C	acceptor_gain	0.6500
11:4955103:C:G	acceptor_gain	0.6200
11:4955152:T:TA	donor_gain	0.5900
11:4955165:G:C	acceptor_gain	0.5900
11:4955585:T:TA	donor_gain	0.5900
11:4955066:A:T	acceptor_gain	0.5800
11:4955055:G:GC	acceptor_gain	0.5700
11:4955159:ATCC:A	acceptor_loss	0.5700
11:4955160:TCC:T	acceptor_loss	0.5700
11:4955162:C:CA	acceptor_loss	0.5700
11:4955163:T:A	acceptor_loss	0.5700
11:4955174:G:C	acceptor_gain	0.5700
11:4955174:G:GC	acceptor_gain	0.5700
11:4955382:A:AC	donor_gain	0.5700
11:4955383:C:CC	donor_gain	0.5700
11:4955052:A:T	acceptor_gain	0.5600
11:4955057:G:C	acceptor_gain	0.5600
11:4955057:G:GC	acceptor_gain	0.5600
11:4955649:AGC:A	donor_gain	0.5600
11:4954979:G:C	acceptor_gain	0.5500
11:4955043:T:C	acceptor_gain	0.5500
11:4955104:C:CT	acceptor_gain	0.5500
11:4955055:G:C	acceptor_gain	0.5400
11:4955070:A:AC	acceptor_gain	0.5400

AlphaMissense

2042 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4955402:G:C	F104L	0.789
11:4955402:G:T	F104L	0.789
11:4955404:A:G	F104L	0.789
11:4955387:G:C	F109L	0.711
11:4955387:G:T	F109L	0.711
11:4955389:A:G	F109L	0.711
11:4955672:G:C	F14L	0.706
11:4955672:G:T	F14L	0.706
11:4955674:A:G	F14L	0.706
11:4955339:G:C	F125L	0.699
11:4955339:G:T	F125L	0.699
11:4955341:A:G	F125L	0.699
11:4954958:G:C	F252L	0.656
11:4954958:G:T	F252L	0.656
11:4954960:A:G	F252L	0.656
11:4954919:A:C	F265L	0.653
11:4954919:A:T	F265L	0.653
11:4954921:A:G	F265L	0.653
11:4955609:G:C	S35R	0.627
11:4955609:G:T	S35R	0.627
11:4955611:T:G	S35R	0.627
11:4955453:G:C	F87L	0.622
11:4955453:G:T	F87L	0.622
11:4955455:A:G	F87L	0.622
11:4955522:A:C	F64L	0.580
11:4955522:A:T	F64L	0.580
11:4955524:A:G	F64L	0.580

dbSNP variants (sampled 300 via entrez): RS1000994591 (11:4956711 G>A), RS1002710121 (11:4956599 G>A), RS1006617536 (11:4957334 T>C,G), RS1007708137 (11:4957504 T>C), RS10082629 (11:4957152 G>A,T), RS1012236949 (11:4956695 G>A), RS1012267928 (11:4956441 C>G,T), RS1013637778 (11:4957391 T>A,C), RS1014842901 (11:4955815 GA>G,GAA), RS1016931777 (11:4957044 T>A,C), RS1022695208 (11:4957575 A>T), RS1023666186 (11:4956710 C>A,G,T), RS1023702544 (11:4956454 T>C), RS1026569115 (11:4957525 C>A,T), RS1028783155 (11:4956023 T>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

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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