OR51A4

Summary

OR51A4 (olfactory receptor family 51 subfamily A member 4, HGNC:14795) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51A4 (Q8NGJ6). 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 401666 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001005329

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14795
Approved symbol	OR51A4
Name	olfactory receptor family 51 subfamily A member 4
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205497
Ensembl biotype	protein_coding
Entrez	401666

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641898

RefSeq mRNA: 1 — MANE Select: NM_001005329 NM_001005329

CCDS: CCDS31367

Canonical transcript exons

ENST00000641898 — 2 exons

Exon	Start	End
ENSE00003812234	4947545	4947605
ENSE00003813924	4942831	4947162

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 41.44.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	41.44	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.38	gold quality
skeletal muscle tissue	UBERON:0001134	34.88	gold quality
monocyte	CL:0000576	34.22	gold quality
leukocyte	CL:0000738	33.62	gold quality
muscle tissue	UBERON:0002385	32.16	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.50	gold quality
liver	UBERON:0002107	29.02	gold quality
duodenum	UBERON:0002114	28.14	gold quality
islet of Langerhans	UBERON:0000006	27.89	gold quality
lymph node	UBERON:0000029	27.57	gold quality
adrenal tissue	UBERON:0018303	27.07	gold quality
tonsil	UBERON:0002372	27.05	gold quality
corpus callosum	UBERON:0002336	27.00	gold quality
blood	UBERON:0000178	26.94	gold quality
superior frontal gyrus	UBERON:0002661	26.77	gold quality
calcaneal tendon	UBERON:0003701	26.51	gold quality
vermiform appendix	UBERON:0001154	26.42	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
muscle of leg	UBERON:0001383	25.80	gold quality
pancreas	UBERON:0001264	24.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.27

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 51A4 — Q8NGJ6 (reviewed: Q8NGJ6)

All UniProt accessions (1): Q8NGJ6

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_001005329* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ6-F1	88.79	0.67

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: 20 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51A4	PRR35	P0CG20	700
OR51A4	GARIN1A	Q6NXP2	575
OR51A4	VN1R4	Q7Z5H5	528
OR51A4	VN1R2	Q8NFZ6	507
OR51A4	VN1R1	Q9GZP7	433
OR51A4	TOGARAM2	Q6ZUX3	420
OR51A4	TAS2R13	Q9NYV9	398
OR51A4	TAS2R10	Q9NYW0	370
OR51A4	TAS2R5	Q9NYW4	370
OR51A4	TAS2R31	P59538	370
OR51A4	TAS2R50	P59544	370
OR51A4	PLEKHS1	Q5SXH7	360
OR51A4	CNGA2	Q16280	358
OR51A4	TAS2R4	Q9NYW5	352
OR51A4	TAS2R43	P59537	348

IntAct

0 interactions, top by confidence:

BioGRID (1): OR51A4 (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

262 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4946660:C:A	donor_gain	0.7800
11:4946659:T:A	donor_gain	0.7000
11:4946851:A:C	donor_gain	0.7000
11:4946545:CATC:C	acceptor_gain	0.6800
11:4946769:A:AC	donor_gain	0.6800
11:4946770:C:CC	donor_gain	0.6800
11:4946438:CAGGG:C	acceptor_gain	0.6200
11:4946547:TC:T	acceptor_gain	0.6100
11:4946548:CC:C	acceptor_gain	0.6100
11:4946972:T:TA	donor_gain	0.6100
11:4947036:AGC:A	donor_gain	0.6000
11:4946366:G:C	acceptor_gain	0.5800
11:4946490:C:G	acceptor_gain	0.5800
11:4946676:CTG:C	donor_gain	0.5700
11:4946546:ATCC:A	acceptor_loss	0.5600
11:4946548:CCTGG:C	acceptor_loss	0.5600
11:4946552:G:C	acceptor_gain	0.5600
11:4946763:TCCAG:T	donor_gain	0.5600
11:4946914:A:AC	donor_gain	0.5600
11:4946550:T:A	acceptor_loss	0.5500
11:4946773:AGAAT:A	donor_gain	0.5500
11:4947079:A:AC	donor_gain	0.5500
11:4946439:A:T	acceptor_gain	0.5400
11:4946442:G:GC	acceptor_gain	0.5400
11:4946444:G:GC	acceptor_gain	0.5400
11:4946491:C:CT	acceptor_gain	0.5400
11:4946561:G:C	acceptor_gain	0.5400
11:4946561:G:GC	acceptor_gain	0.5400
11:4946368:G:C	acceptor_gain	0.5300
11:4946444:G:C	acceptor_gain	0.5300

AlphaMissense

2036 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4946789:G:C	F104L	0.855
11:4946789:G:T	F104L	0.855
11:4946791:A:G	F104L	0.855
11:4946996:G:C	S35R	0.820
11:4946996:G:T	S35R	0.820
11:4946998:T:G	S35R	0.820
11:4946774:G:C	F109L	0.799
11:4946774:G:T	F109L	0.799
11:4946776:A:G	F109L	0.799
11:4947059:G:C	F14L	0.775
11:4947059:G:T	F14L	0.775
11:4947061:A:G	F14L	0.775
11:4946345:G:C	F252L	0.770
11:4946345:G:T	F252L	0.770
11:4946347:A:G	F252L	0.770
11:4946306:A:C	F265L	0.758
11:4946306:A:T	F265L	0.758
11:4946308:A:G	F265L	0.758
11:4946726:G:C	F125L	0.719
11:4946726:G:T	F125L	0.719
11:4946728:A:G	F125L	0.719
11:4946909:A:C	F64L	0.719
11:4946909:A:T	F64L	0.719
11:4946911:A:G	F64L	0.719
11:4946213:T:A	K296N	0.718
11:4946213:T:G	K296N	0.718
11:4946639:G:C	S154R	0.715
11:4946639:G:T	S154R	0.715
11:4946641:T:G	S154R	0.715
11:4946741:C:A	M120I	0.694

dbSNP variants (sampled 300 via entrez): RS1002042564 (11:4945706 A>C,G), RS1002630914 (11:4942827 T>C), RS1003273666 (11:4948975 G>A), RS1004362195 (11:4949093 T>C), RS1004797732 (11:4947497 A>G), RS1006562806 (11:4944994 A>G), RS1008646812 (11:4946003 G>A,C,T), RS1010057162 (11:4949032 T>C), RS1010934753 (11:4944924 T>A), RS1011066720 (11:4943019 G>A), RS1011284390 (11:4943202 A>C), RS1011970377 (11:4945746 A>T), RS1013137996 (11:4943383 C>G), RS1013807641 (11:4945518 G>A,C), RS1015603327 (11:4943352 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation, increases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1

Clinical trials (associated diseases)

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