OR5AP2

Summary

OR5AP2 (olfactory receptor family 5 subfamily AP member 2, HGNC:15258) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AP2 (Q8NGF4). 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 338675 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_001002925

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15258
Approved symbol	OR5AP2
Name	olfactory receptor family 5 subfamily AP member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172464
Ensembl biotype	protein_coding
Entrez	338675

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000544374

RefSeq mRNA: 1 — MANE Select: NM_001002925 NM_001002925

CCDS: CCDS31534

Canonical transcript exons

ENST00000544374 — 1 exons

Exon	Start	End
ENSE00002252212	56641489	56642439

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 86.49.

Top tissues by expression

132 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	86.49	gold quality
sural nerve	UBERON:0015488	37.65	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
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
tonsil	UBERON:0002372	32.82	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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
lymph node	UBERON:0000029	28.98	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
urinary bladder	UBERON:0001255	27.95	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.24	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
leukocyte	CL:0000738	25.45	gold quality
monocyte	CL:0000576	25.23	gold quality
calcaneal tendon	UBERON:0003701	25.01	gold quality
muscle of leg	UBERON:0001383	24.87	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
uterine cervix	UBERON:0000002	24.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	15.38
E-ANND-3	no	2.47

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5ap2	ENSMUSG00000046975
rattus_norvegicus	Or5ap2	ENSRNOG00000060217
rattus_norvegicus	Or5ap2b	ENSRNOG00000085660

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), 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 5AP2 — Q8NGF4 (reviewed: Q8NGF4)

All UniProt accessions (1): Q8NGF4

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_001002925* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGF4-F1	88.06	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): 103–195

Glycosylation sites (1): 11

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (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, 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, SRSF9_TARGET_GENES, 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

108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AP2	FOXD4L6	Q3SYB3	594
OR5AP2	ZNF684	Q5T5D7	579
OR5AP2	FBXO48	Q5FWF7	570
OR5AP2	NUP62CL	Q9H1M0	517
OR5AP2	ZNF793	Q6ZN11	507
OR5AP2	ZNF616	Q08AN1	506
OR5AP2	BHLHA9	Q7RTU4	476
OR5AP2	ZNF611	Q8N823	475
OR5AP2	ZNF18	P17022	447
OR5AP2	CCDC127	Q96BQ5	434
OR5AP2	KLHL5	Q96PQ7	417
OR5AP2	ZNF304	Q9HCX3	379
OR5AP2	CITED4	Q96RK1	315
OR5AP2	IGLON5	A6NGN9	300
OR5AP2	HTR1E	P28566	298

IntAct

0 interactions, top by confidence:

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: 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

317 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56642348:C:CA	donor_gain	0.9900
11:56642347:T:TA	donor_gain	0.9800
11:56642399:T:TA	donor_gain	0.9100
11:56642397:CTT:C	donor_gain	0.9000
11:56642312:G:A	donor_gain	0.8300
11:56642008:C:CA	donor_gain	0.8100
11:56642396:A:AC	donor_gain	0.8000
11:56642397:C:CC	donor_gain	0.8000
11:56642345:ACT:A	donor_gain	0.7000
11:56642346:CTC:C	donor_gain	0.7000
11:56642301:CCACC:C	donor_loss	0.6700
11:56642302:CA:C	donor_loss	0.6700
11:56642304:C:CT	donor_loss	0.6700
11:56642299:GCCCA:G	donor_loss	0.6600
11:56642300:CCCA:C	donor_loss	0.6600
11:56641750:G:T	acceptor_gain	0.6500
11:56642398:T:C	donor_gain	0.6400
11:56642007:T:A	donor_gain	0.6300
11:56642305:C:G	donor_loss	0.6300
11:56642092:AGTC:A	donor_gain	0.6200
11:56642092:AGTCC:A	donor_gain	0.5900
11:56642214:C:CC	acceptor_gain	0.5900
11:56642226:GGCTA:G	acceptor_gain	0.5800
11:56641765:C:CT	acceptor_gain	0.5700
11:56642056:G:C	donor_gain	0.5700
11:56642211:CAT:C	acceptor_gain	0.5700
11:56642296:ATTGC:A	donor_loss	0.5600
11:56642303:A:AC	donor_gain	0.5600
11:56642304:C:CC	donor_gain	0.5600
11:56642393:G:GC	donor_gain	0.5600

AlphaMissense

2099 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56642386:A:C	F18L	0.914
11:56642386:A:T	F18L	0.914
11:56642388:A:G	F18L	0.914
11:56641918:A:C	F174L	0.862
11:56641918:A:T	F174L	0.862
11:56641920:A:G	F174L	0.862
11:56641891:G:C	F183L	0.796
11:56641891:G:T	F183L	0.796
11:56641893:A:G	F183L	0.796
11:56641930:A:C	F170L	0.778
11:56641930:A:T	F170L	0.778
11:56641932:A:G	F170L	0.778
11:56642387:A:G	F18S	0.728
11:56641810:A:C	S210R	0.690
11:56641810:A:T	S210R	0.690
11:56641812:T:G	S210R	0.690
11:56642329:A:C	F37L	0.676
11:56642329:A:T	F37L	0.676
11:56642331:A:G	F37L	0.676
11:56642338:A:C	F34L	0.666
11:56642338:A:T	F34L	0.666
11:56642340:A:G	F34L	0.666
11:56642387:A:C	F18C	0.658
11:56641795:G:C	S215R	0.638
11:56641795:G:T	S215R	0.638
11:56641797:T:G	S215R	0.638
11:56641666:A:C	F258L	0.627
11:56641666:A:T	F258L	0.627
11:56641668:A:G	F258L	0.627
11:56642140:A:C	F100L	0.616

dbSNP variants (sampled 300 via entrez): RS1001100642 (11:56641168 C>A), RS1001153117 (11:56641408 G>C), RS1001992548 (11:56641097 T>C), RS1002593179 (11:56643337 G>A,T), RS1003119676 (11:56644135 G>A,C,T), RS1003129505 (11:56644396 C>T), RS1003809504 (11:56643383 A>T), RS1003955326 (11:56644082 G>A), RS1004259128 (11:56641350 T>A,C), RS1005616289 (11:56642164 C>T), RS1008458252 (11:56643171 A>C), RS1010717500 (11:56642745 A>G), RS1012569071 (11:56643772 A>C,G), RS1012975272 (11:56644092 G>A,C), RS1013035613 (11:56643372 AAGAG>A,AAG)

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

2 associations (top):

Study	Trait	p-value
GCST000080_3	Hemostatic factors and hematological phenotypes	7.000000e-08
GCST005580_313	Intraocular pressure	5.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Air Pollutants	increases expression	1

Clinical trials (associated diseases)

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