OR9K2

Summary

OR9K2 (olfactory receptor family 9 subfamily K member 2, HGNC:15339) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 9K2 (Q8NGE7). 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 441639 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001005243

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15339
Approved symbol	OR9K2
Name	olfactory receptor family 9 subfamily K member 2
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170605
Ensembl biotype	protein_coding
Entrez	441639

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000641329, ENST00000641353, ENST00000641374, ENST00000641982

RefSeq mRNA: 1 — MANE Select: NM_001005243 NM_001005243

CCDS: CCDS31814

Canonical transcript exons

ENST00000641329 — 3 exons

Exon	Start	End
ENSE00003811888	55126406	55126516
ENSE00003812031	55129826	55132750
ENSE00003813871	55126828	55126911

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 85.25.

Top tissues by expression

128 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	85.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.80	gold quality
granulocyte	CL:0000094	43.51	silver quality
ganglionic eminence	UBERON:0004023	38.15	gold quality
hindlimb stylopod muscle	UBERON:0004252	37.69	silver 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
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
leukocyte	CL:0000738	32.55	silver quality
monocyte	CL:0000576	32.16	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	28.59	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right coronary artery	UBERON:0001625	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.77	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.55	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
corpus callosum	UBERON:0002336	24.87	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

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or9k2	ENSMUSG00000058084
mus_musculus	Or9k2b	ENSMUSG00000059862
rattus_norvegicus	Or9k2b	ENSRNOG00000008464

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 9K2 — Q8NGE7 (reviewed: Q8NGE7)

Alternative names: Olfactory receptor OR12-2

All UniProt accessions (1): A0A286YF25

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_001005243* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 6, sequence variant 3, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGE7-F1	87.00	0.70

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): 122–214

Glycosylation sites (2): 30, 114

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): 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), 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
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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR9K2	BCAS4	Q8TDM0	456
OR9K2	KRTAP19-8	Q3LI54	432
OR9K2	CDC27	P30260	387
OR9K2	TAB3	Q8N5C8	387
OR9K2	OR4C13	Q8NGP0	377
OR9K2	TLDC2	A0PJX2	349
OR9K2	KRTAP9-1	A8MXZ3	348
OR9K2	KRTAP5-7	Q6L8G8	323
OR9K2	EVC2	Q86UK5	314
OR9K2	TAS2R42	Q7RTR8	308
OR9K2	LLPH	Q9BRT6	307
OR9K2	KRTAP9-2	Q9BYQ4	293
OR9K2	OR5M3	Q8NGP4	283
OR9K2	TAB2	Q9NYJ8	273
OR9K2	KRTAP5-11	Q6L8G4	264

IntAct

0 interactions, top by confidence:

BioGRID (1): OR9K2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A6ND48, A6NFC9, B2RN74, O43869, O60412, O60431, P23265, P31388, P34987, P47883, P47884, P47887, P58170, Q0VAX9, Q5JRS4, Q60894, Q6IFN5, Q7Z3T1, Q8NG78, Q8NG84, Q8NG94, Q8NG99, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGN1, Q8NGN2, Q8NGR1, Q8NGR2, Q8NGR6, Q8NGT2, Q8NGW1, Q8NGW6, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O43749, O76100, O95006, O95007, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23267, P23269, P23272, P23274, P34984, P58173, P70526, Q13606, Q15619, Q15622, Q6IF82, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N148, Q8N628, Q8NG78, Q8NGA1, Q8NGC2, Q8NGC5, Q8NGE1, Q8NGE2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55129896:GG:G	donor_gain	0.9200
12:55129897:GG:G	donor_gain	0.9200
12:55130515:A:AG	acceptor_gain	0.8600
12:55130516:G:GG	acceptor_gain	0.8600
12:55129898:G:GG	donor_gain	0.6600
12:55129894:CAGG:C	donor_loss	0.6300
12:55129895:AGG:A	donor_loss	0.6300
12:55129899:T:G	donor_loss	0.6300
12:55130019:T:G	donor_gain	0.6300
12:55129700:C:T	donor_gain	0.6200
12:55129900:A:C	donor_loss	0.6000
12:55130513:ACAG:A	acceptor_loss	0.5900
12:55130515:A:C	acceptor_loss	0.5900
12:55130035:C:T	donor_gain	0.5800
12:55130516:GTTCT:G	acceptor_gain	0.5800
12:55129890:GCT:G	donor_gain	0.5700
12:55130267:ACTC:A	donor_gain	0.5700
12:55130313:T:G	donor_gain	0.5700
12:55130506:T:A	acceptor_loss	0.5500
12:55130258:C:G	donor_gain	0.5400
12:55129902:G:C	donor_loss	0.5300
12:55129901:CG:C	donor_loss	0.5200
12:55130308:C:G	donor_gain	0.5200
12:55130516:GT:G	acceptor_gain	0.5200
12:55130382:A:AG	donor_gain	0.5100
12:55130516:GTT:G	acceptor_gain	0.5100
12:55130312:G:GG	donor_gain	0.4700
12:55130350:C:CA	acceptor_gain	0.4700
12:55130311:A:AG	donor_gain	0.4600
12:55130383:T:G	donor_gain	0.4600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000121920 (12:55130734 G>A), RS1000356479 (12:55129474 C>G), RS1000408802 (12:55131032 G>A), RS1000944708 (12:55126748 T>C), RS1000960105 (12:55130689 G>C), RS1001116898 (12:55131830 A>C), RS1001307200 (12:55131079 G>A,T), RS1002101485 (12:55126131 A>G), RS1002153824 (12:55126361 G>A,T), RS1002248895 (12:55125850 T>C), RS1002704675 (12:55131782 C>T), RS1002826306 (12:55131495 G>C), RS1002944946 (12:55128921 A>G), RS1003408072 (12:55129149 G>T), RS1003416895 (12:55132839 G>T)

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
GCST002238_5	Contrast sensitivity	5.000000e-06
GCST003123_27	Severe influenza A (H1N1) infection	1.000000e-10
GCST010002_217	Refractive error	6.000000e-174

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005419	contrast sensitivity measurement
EFO:1001488	influenza A (H1N1)

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
Acetaminophen	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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