OR5AK2

Summary

OR5AK2 (olfactory receptor family 5 subfamily AK member 2, HGNC:15251) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AK2 (Q8NH90). 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 390181 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_001005323

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15251
Approved symbol	OR5AK2
Name	olfactory receptor family 5 subfamily AK member 2
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181273
Ensembl biotype	protein_coding
Entrez	390181

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000326855

RefSeq mRNA: 1 — MANE Select: NM_001005323 NM_001005323

CCDS: CCDS31538

Canonical transcript exons

ENST00000326855 — 1 exons

Exon	Start	End
ENSE00003989335	56988914	56989843

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 72.83.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	72.83	gold quality
granulocyte	CL:0000094	37.69	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	37.18	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.39	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
placenta	UBERON:0001987	34.48	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	33.67	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.23	gold quality
tonsil	UBERON:0002372	28.80	gold quality
leukocyte	CL:0000738	28.31	gold quality
duodenum	UBERON:0002114	28.14	gold quality
calcaneal tendon	UBERON:0003701	27.88	gold quality
right coronary artery	UBERON:0001625	27.87	gold quality
corpus callosum	UBERON:0002336	27.79	gold quality
primary visual cortex	UBERON:0002436	27.79	gold quality
monocyte	CL:0000576	27.73	gold quality
lymph node	UBERON:0000029	27.57	gold quality
lung	UBERON:0002048	26.89	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.31	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5ak25	ENSMUSG00000075218
mus_musculus	Or5ak24	ENSMUSG00000075219
mus_musculus	Or5ak23	ENSMUSG00000075220
rattus_norvegicus	Olr440	ENSRNOG00000009376
rattus_norvegicus	Or5ak25	ENSRNOG00000033543
rattus_norvegicus	Or5ak24	ENSRNOG00000034115

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), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5AK2 — Q8NH90 (reviewed: Q8NH90)

All UniProt accessions (2): Q8NH90, A0A126GW20

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_001005323* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, glycosylation site 3, sequence variant 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH90-F1	84.16	0.36

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, 155, 265

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, 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, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AK2	ARHGAP36	Q6ZRI8	629
OR5AK2	DRC11L	A6NCM1	425
OR5AK2	TMPRSS11A	Q6ZMR5	411
OR5AK2	CCDC61	Q9Y6R9	374
OR5AK2	ENTREP2	O60320	335
OR5AK2	H3BTC1	H3BTC1	314
OR5AK2	IRS4	O14654	313
OR5AK2	ZNF461	Q8TAF7	305
OR5AK2	UBXN2B	Q14CS0	300
OR5AK2	ERGIC2	Q96RQ1	282
OR5AK2	DOK6	Q6PKX4	279
OR5AK2	LCORL	Q8N3X6	279
OR5AK2	LHX3	Q9UBR4	264
OR5AK2	POP5	Q969H6	257
OR5AK2	PRDM11	Q9NQV5	252

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NF89, A6NHG9, A6NIJ9, A6NJZ3, A6NKK0, A6NM76, P0C617, P0DN80, P34983, P37067, P37069, Q60884, Q60886, Q7TR96, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG5, Q8NGI8, Q8NGL4, Q8NGQ3, Q8NGS5, Q8NGV6, Q8NGV7, Q8NH89, Q8NH90, Q8NH92, Q8NH93, Q8NHB8, Q8NHC7, Q8VEW2, Q8VEW6, Q8VEX6, Q8VF12, Q8VF13, Q8VFB9, Q8VFD1

Diamond homologs: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34983, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q60895, Q6IEU7, Q6IF36, Q6UXT6, Q7TR96, Q7TS48, Q8N127, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGE7, Q8NGF4, Q8NGF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

179 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56989478:T:G	acceptor_gain	0.7300
11:56989477:AT:A	acceptor_gain	0.6600
11:56989477:A:AG	acceptor_gain	0.6200
11:56989567:C:G	acceptor_gain	0.6100
11:56989569:T:G	acceptor_gain	0.6100
11:56989038:A:AG	donor_gain	0.5900
11:56988935:G:GT	donor_gain	0.5800
11:56988973:GCA:G	donor_gain	0.5700
11:56989037:AAT:A	donor_gain	0.5700
11:56989521:T:TA	acceptor_gain	0.5700
11:56988968:GCCC:G	donor_gain	0.5600
11:56989616:A:T	donor_gain	0.5600
11:56989089:C:G	donor_gain	0.5400
11:56989107:ATTT:A	acceptor_gain	0.5400
11:56989484:A:AG	acceptor_gain	0.5400
11:56989615:G:GT	donor_gain	0.5300
11:56989719:A:T	donor_gain	0.5300
11:56989133:A:AG	acceptor_gain	0.5100
11:56989568:A:AG	acceptor_gain	0.5100
11:56989605:G:T	acceptor_gain	0.5100
11:56989478:T:TA	acceptor_gain	0.5000
11:56989574:ATCAT:A	acceptor_gain	0.5000
11:56989293:G:GG	donor_gain	0.4900
11:56989033:G:GA	donor_gain	0.4800
11:56989094:T:G	donor_gain	0.4800
11:56989718:G:GT	donor_gain	0.4800
11:56988975:A:AG	donor_gain	0.4700
11:56988975:A:G	donor_gain	0.4600
11:56989031:ATG:A	donor_gain	0.4600
11:56989134:C:G	acceptor_gain	0.4600

AlphaMissense

2045 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56988947:T:C	F12L	0.807
11:56988949:C:A	F12L	0.807
11:56988949:C:G	F12L	0.807
11:56989415:T:C	F168L	0.761
11:56989417:C:A	F168L	0.761
11:56989417:C:G	F168L	0.761
11:56988962:T:C	F17L	0.698
11:56988964:T:A	F17L	0.698
11:56988964:T:G	F17L	0.698
11:56989442:T:C	F177L	0.675
11:56989444:T:A	F177L	0.675
11:56989444:T:G	F177L	0.675
11:56989004:T:C	F31L	0.643
11:56989006:C:A	F31L	0.643
11:56989006:C:G	F31L	0.643
11:56989232:T:C	F107L	0.637
11:56989234:T:A	F107L	0.637
11:56989234:T:G	F107L	0.637
11:56989166:T:C	F85L	0.596
11:56989168:C:A	F85L	0.596
11:56989168:C:G	F85L	0.596
11:56989445:T:C	F178L	0.595
11:56989447:C:A	F178L	0.595
11:56989447:C:G	F178L	0.595
11:56988995:T:C	F28L	0.571
11:56988997:C:A	F28L	0.571
11:56988997:C:G	F28L	0.571
11:56989664:T:C	F251L	0.564
11:56989666:C:A	F251L	0.564
11:56989666:C:G	F251L	0.564

dbSNP variants (sampled 300 via entrez): RS1000977692 (11:56987435 A>T), RS1000993545 (11:56987532 G>A), RS1001046104 (11:56987352 G>A), RS1001087199 (11:56987745 A>C,G), RS1001711455 (11:56989829 A>G), RS1002258921 (11:56987406 T>C), RS1002826133 (11:56987205 G>A), RS1003085146 (11:56990072 G>A), RS1005421431 (11:56988398 A>C), RS1005678521 (11:56988801 T>C), RS1006957127 (11:56987840 A>G), RS1010129196 (11:56989255 C>A,T), RS1011362110 (11:56989286 G>A), RS1011810809 (11:56990225 C>CA), RS1012743826 (11:56986996 G>A)

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
GCST010396_36	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-06
GCST012100_11	Hypertrophic cardiomyopathy (sarcomere positive)	5.000000e-13
GCST012101_12	Hypertrophic cardiomyopathy	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
perfluorooctanoic acid	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
Tobacco Smoke Pollution	affects expression	1

Clinical trials (associated diseases)

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