OR5K2

Summary

OR5K2 (olfactory receptor family 5 subfamily K member 2, HGNC:14774) is a protein-coding gene on chromosome 3q11.2, encoding Olfactory receptor 5K2 (Q8NHB8). 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 402135 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_001004737

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14774
Approved symbol	OR5K2
Name	olfactory receptor family 5 subfamily K member 2
Location	3q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000231861
Ensembl biotype	protein_coding
Entrez	402135

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000427338

RefSeq mRNA: 1 — MANE Select: NM_001004737 NM_001004737

CCDS: CCDS33804

Canonical transcript exons

ENST00000427338 — 1 exons

Exon	Start	End
ENSE00004472037	98497681	98498631

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 77.72.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.72	silver quality
popliteal artery	UBERON:0002250	58.74	gold quality
tibial artery	UBERON:0007610	58.73	gold quality
mucosa of stomach	UBERON:0001199	57.87	gold quality
gastrocnemius	UBERON:0001388	57.87	gold quality
left coronary artery	UBERON:0001626	57.77	gold quality
muscle of leg	UBERON:0001383	57.35	gold quality
descending thoracic aorta	UBERON:0002345	57.08	gold quality
muscle layer of sigmoid colon	UBERON:0035805	56.66	gold quality
thoracic aorta	UBERON:0001515	55.74	gold quality
ascending aorta	UBERON:0001496	55.49	gold quality
right coronary artery	UBERON:0001625	55.48	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	55.08	gold quality
apex of heart	UBERON:0002098	54.43	gold quality
smooth muscle tissue	UBERON:0001135	53.62	gold quality
tibial nerve	UBERON:0001323	53.58	gold quality
body of uterus	UBERON:0009853	53.58	gold quality
calcaneal tendon	UBERON:0003701	53.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	53.29	gold quality
lower esophagus	UBERON:0013473	53.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	52.66	gold quality
endocervix	UBERON:0000458	52.50	gold quality
spleen	UBERON:0002106	52.43	gold quality
granulocyte	CL:0000094	52.38	gold quality
cerebellar hemisphere	UBERON:0002245	52.27	gold quality
cerebellar cortex	UBERON:0002129	52.18	gold quality
cerebellum	UBERON:0002037	51.95	gold quality
right ovary	UBERON:0002118	51.09	gold quality
colon	UBERON:0001155	51.02	gold quality
myometrium	UBERON:0001296	50.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.13

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5k1	ENSMUSG00000049362
mus_musculus	Or5k1b	ENSMUSG00000071510

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), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 5K2 — Q8NHB8 (reviewed: Q8NHB8)

Alternative names: Olfactory receptor OR3-9

All UniProt accessions (2): A0A126GVB4, Q8NHB8

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_001004737* (*=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 conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHB8-F1	88.89	0.69

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 (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: 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, ZNF146_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (4): 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 (4): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549), protein binding (GO:0005515)

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
binding	2
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5K2	TAS2R60	P59551	470
OR5K2	CCDC116	Q8IYX3	460
OR5K2	NXPH2	O95156	419
OR5K2	CHRM4	P08173	351
OR5K2	OPN3	Q9H1Y3	349
OR5K2	CHRM1	P11229	347
OR5K2	INPP1	P49441	321
OR5K2	INPP5B	P32019	310
OR5K2	TAS1R3	Q7RTX0	287
OR5K2	TAS2R38	P59533	278
OR5K2	TAS1R1	Q7RTX1	268
OR5K2	ICAM5	Q9UMF0	257
OR5K2	GNAL	P38405	257
OR5K2	TMEM80	Q96HE8	254
OR5K2	OPN1SW	P03999	253

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MEOX2	OR5K2	psi-mi:“MI:0915”(physical association)	0.560
OR5K2	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): OR5K2 (Two-hybrid)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34985, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q6UXT6, Q7TS48, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

186 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98497856:T:G	donor_gain	0.7500
3:98498157:T:G	donor_gain	0.7000
3:98497871:G:T	donor_gain	0.6300
3:98497818:G:GA	donor_gain	0.5700
3:98497792:ACCGT:A	donor_gain	0.5500
3:98497922:T:G	donor_gain	0.5400
3:98497975:G:GG	donor_gain	0.5400
3:98497861:A:G	donor_gain	0.5300
3:98497871:G:GT	donor_gain	0.5300
3:98497974:A:AG	donor_gain	0.5300
3:98497996:ACTGT:A	acceptor_gain	0.5200
3:98497802:GGAA:G	donor_gain	0.5000
3:98497972:GC:G	donor_gain	0.5000
3:98498359:A:AG	acceptor_gain	0.5000
3:98498360:G:GG	acceptor_gain	0.5000
3:98497747:C:G	donor_gain	0.4600
3:98497797:G:GA	donor_gain	0.4500
3:98497857:G:GG	donor_gain	0.4500
3:98497925:T:A	donor_gain	0.4500
3:98498136:A:T	donor_gain	0.4400
3:98498219:A:AG	donor_gain	0.4400
3:98498359:AGAAT:A	acceptor_gain	0.4400
3:98498360:GAATG:G	acceptor_gain	0.4400
3:98498135:G:GT	donor_gain	0.4300
3:98497812:T:G	donor_gain	0.4200
3:98498483:G:GT	donor_gain	0.4200
3:98497709:A:AG	donor_gain	0.4100
3:98497767:G:GA	donor_gain	0.4100
3:98498311:A:AG	donor_gain	0.4100
3:98498311:A:G	donor_gain	0.4100

AlphaMissense

2078 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98498182:T:C	F168L	0.828
3:98498184:C:A	F168L	0.828
3:98498184:C:G	F168L	0.828
3:98497714:T:C	F12L	0.819
3:98497716:T:A	F12L	0.819
3:98497716:T:G	F12L	0.819
3:98498209:T:C	F177L	0.779
3:98498211:T:A	F177L	0.779
3:98498211:T:G	F177L	0.779
3:98497762:T:C	F28L	0.711
3:98497764:T:A	F28L	0.711
3:98497764:T:G	F28L	0.711
3:98498170:T:C	F164L	0.683
3:98498172:T:A	F164L	0.683
3:98498172:T:G	F164L	0.683
3:98498017:T:C	F113L	0.677
3:98498019:T:A	F113L	0.677
3:98498019:T:G	F113L	0.677
3:98497771:T:C	F31L	0.666
3:98497773:C:A	F31L	0.666
3:98497773:C:G	F31L	0.666
3:98498512:T:C	F278L	0.664
3:98498514:T:A	F278L	0.664
3:98498514:T:G	F278L	0.664
3:98497729:T:C	F17L	0.655
3:98497731:T:A	F17L	0.655
3:98497731:T:G	F17L	0.655
3:98497981:T:C	F101L	0.654
3:98497983:T:A	F101L	0.654
3:98497983:T:G	F101L	0.654

dbSNP variants (sampled 300 via entrez): RS1000903604 (3:98496215 CT>C), RS1001106577 (3:98498998 C>T), RS1003060929 (3:98496489 G>A), RS1003113358 (3:98496361 T>A,C), RS1005356522 (3:98496725 T>C), RS1005959164 (3:98496897 G>A,C), RS1007628584 (3:98495821 A>G), RS1008636112 (3:98497916 C>G,T), RS1009590715 (3:98498519 T>A), RS1011546577 (3:98498917 C>CA), RS1011814431 (3:98496047 T>A), RS1011963678 (3:98496348 A>C), RS1012822133 (3:98498318 G>A,C), RS1014627479 (3:98498029 G>A), RS1014910133 (3:98497021 G>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

0 associations (top):

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
bisphenol A	increases methylation	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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