OR2K2

Summary

OR2K2 (olfactory receptor family 2 subfamily K member 2, HGNC:8264) is a protein-coding gene on chromosome 9q31.3, encoding Olfactory receptor 2K2 (Q8NGT1). 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 26248 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_205859

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8264
Approved symbol	OR2K2
Name	olfactory receptor family 2 subfamily K member 2
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRH06, HSHTPCRH06
Ensembl gene	ENSG00000171133
Ensembl biotype	protein_coding
Entrez	26248

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000302681, ENST00000374428

RefSeq mRNA: 1 — MANE Select: NM_205859 NM_205859

CCDS: CCDS6778

Canonical transcript exons

ENST00000302681 — 2 exons

Exon	Start	End
ENSE00001164573	111327229	111328482
ENSE00003813603	111330106	111330224

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 80.30.

Top tissues by expression

97 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	80.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	56.45	gold quality
substantia nigra	UBERON:0002038	50.70	gold quality
gastrocnemius	UBERON:0001388	50.40	gold quality
muscle of leg	UBERON:0001383	49.05	gold quality
tibial nerve	UBERON:0001323	44.66	gold quality
Ammon’s horn	UBERON:0001954	40.49	gold quality
hypothalamus	UBERON:0001898	40.15	gold quality
hindlimb stylopod muscle	UBERON:0004252	40.09	silver quality
primary visual cortex	UBERON:0002436	39.59	silver quality
bone marrow cell	CL:0002092	38.24	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
apex of heart	UBERON:0002098	36.91	gold quality
putamen	UBERON:0001874	36.80	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
right atrium auricular region	UBERON:0006631	36.37	gold quality
mucosa of stomach	UBERON:0001199	36.33	silver quality
Brodmann (1909) area 9	UBERON:0013540	36.22	gold quality
corpus callosum	UBERON:0002336	35.90	gold quality
sural nerve	UBERON:0015488	35.80	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.33	gold quality
calcaneal tendon	UBERON:0003701	34.57	gold quality
amygdala	UBERON:0001876	34.52	gold quality
temporal lobe	UBERON:0001871	34.48	gold quality
heart left ventricle	UBERON:0002084	34.42	gold quality
heart	UBERON:0000948	33.75	gold quality
brain	UBERON:0000955	33.12	gold quality
prefrontal cortex	UBERON:0000451	33.07	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease. (PMID:38540444)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2k2	ENSMUSG00000043385
rattus_norvegicus	Or2k2	ENSRNOG00000089249

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 2K2 — Q8NGT1 (reviewed: Q8NGT1)

Alternative names: HTPCRH06, Olfactory receptor OR9-17

All UniProt accessions (3): A0A0C4DFP3, A0A494BX18, Q8NGT1

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_995581* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGT1-F1	86.93	0.53

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): 97–188

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: 26 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, YGACNNYACAR_UNKNOWN, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	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
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

224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2K2	FAM222B	Q8WU58	463
OR2K2	PDZD9	Q8IXQ8	454
OR2K2	CATIP	Q7Z7H3	447
OR2K2	ADGRF3	Q8IZF5	397
OR2K2	KCNH3	Q9ULD8	370
OR2K2	TAAR5	O14804	358
OR2K2	COL20A1	Q9P218	322
OR2K2	LAMC2	Q13753	307
OR2K2	RTP1	P59025	296
OR2K2	PRG4	Q92954	296
OR2K2	GPR31	O00270	295
OR2K2	CEP152	O94986	291
OR2K2	GPRC5D	Q9NZD1	290
OR2K2	GPR37L1	O60883	289
OR2K2	ECPAS	Q5VYK3	280

IntAct

3 interactions, top by confidence:

A	B	Type	Score
OR2K2	NME2P1	psi-mi:“MI:0914”(association)	0.530

BioGRID (9): NME2P1 (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), PAK1 (Affinity Capture-MS), OR2K2 (Affinity Capture-MS), AK1 (Affinity Capture-MS), PAK1 (Affinity Capture-MS), CHMP4A (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), EFHD2 (Affinity Capture-MS)

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

213 predictions. Top by Δscore:

Variant	Effect	Δscore
9:111328337:CAAGG:C	donor_gain	0.8600
9:111328332:CA:C	donor_gain	0.7900
9:111328363:TCTA:T	donor_gain	0.6900
9:111328258:A:C	donor_gain	0.6200
9:111327565:C:CC	acceptor_gain	0.6100
9:111328336:A:AC	donor_gain	0.6000
9:111328337:C:CC	donor_gain	0.6000
9:111327759:C:CT	acceptor_gain	0.5900
9:111328367:AC:A	donor_gain	0.5900
9:111328368:CC:C	donor_gain	0.5900
9:111327561:TAAA:T	acceptor_gain	0.5800
9:111328333:A:AC	donor_gain	0.5800
9:111327560:TTAAA:T	acceptor_gain	0.5600
9:111327667:G:C	donor_gain	0.5500
9:111328366:A:T	donor_gain	0.5500
9:111327696:C:CT	donor_gain	0.5300
9:111327758:TC:T	acceptor_gain	0.5200
9:111327713:C:CT	donor_gain	0.5100
9:111327712:C:CT	donor_gain	0.5000
9:111328333:A:C	donor_gain	0.5000
9:111328338:A:C	donor_gain	0.5000
9:111327687:CAAAA:C	donor_gain	0.4900
9:111327691:A:AC	donor_gain	0.4900
9:111328366:AAC:A	donor_gain	0.4900
9:111327659:G:C	donor_gain	0.4800
9:111327796:A:AC	donor_gain	0.4700
9:111327797:C:CC	donor_gain	0.4700
9:111328017:GC:G	acceptor_gain	0.4700
9:111328253:A:C	donor_gain	0.4700
9:111327958:TCC:T	acceptor_gain	0.4600

AlphaMissense

2048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:111327564:A:C	S290R	0.941
9:111327564:A:T	S290R	0.941
9:111327566:T:G	S290R	0.941
9:111328341:G:C	S31R	0.932
9:111328341:G:T	S31R	0.932
9:111328343:T:G	S31R	0.932
9:111328080:C:A	M118I	0.911
9:111328080:C:G	M118I	0.911
9:111328080:C:T	M118I	0.911
9:111327729:C:A	K235N	0.891
9:111327729:C:G	K235N	0.891
9:111328069:C:G	R122P	0.890
9:111328072:T:G	D121A	0.870
9:111328071:G:C	D121E	0.866
9:111328071:G:T	D121E	0.866
9:111328078:G:T	A119E	0.866
9:111327579:G:C	N285K	0.863
9:111327579:G:T	N285K	0.863
9:111327558:T:A	R292S	0.862
9:111327558:T:G	R292S	0.862
9:111328072:T:A	D121V	0.862
9:111328305:G:C	S43R	0.861
9:111328305:G:T	S43R	0.861
9:111328307:T:G	S43R	0.861
9:111327906:G:C	F176L	0.855
9:111327906:G:T	F176L	0.855
9:111327908:A:G	F176L	0.855
9:111327723:A:C	F237L	0.848
9:111327723:A:T	F237L	0.848
9:111327725:A:G	F237L	0.848

dbSNP variants (sampled 300 via entrez): RS1000271655 (9:111330290 G>A), RS1000721788 (9:111330493 C>T), RS1001016940 (9:111329372 T>A), RS1002734727 (9:111327855 G>A), RS1002860810 (9:111329056 A>G), RS1003108487 (9:111327002 G>C), RS1003456138 (9:111332106 G>A), RS1004610231 (9:111327333 A>G), RS1004887800 (9:111328760 T>G), RS1005089590 (9:111330243 AAATT>A), RS1006662409 (9:111327237 G>C), RS1007161765 (9:111329946 C>A,T), RS1007748955 (9:111328573 A>G,T), RS1008240554 (9:111328796 T>C), RS1008369520 (9:111331320 A>C,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

6 associations (top):

Study	Trait	p-value
GCST001137_7	White blood cell count	2.000000e-22
GCST002541_77	Menarche (age at onset)	1.000000e-08
GCST002541_78	Menarche (age at onset)	2.000000e-23
GCST007927_16	Medication use (beta blocking agents)	7.000000e-09
GCST011946_18	White matter hyperintensity volume	4.000000e-06
GCST011947_23	White matter hyperintensity volume	2.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005091	monocyte count
EFO:0004703	age at menarche
EFO:0009929	Beta blocking agent use measurement
EFO:0005665	white matter hyperintensity measurement

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
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
2-palmitoylglycerol	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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