OR2AK2

Summary

OR2AK2 (olfactory receptor family 2 subfamily AK member 2, HGNC:19569) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2AK2 (Q8NG84). 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 391191 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_001004491

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19569
Approved symbol	OR2AK2
Name	olfactory receptor family 2 subfamily AK member 2
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187080
Ensembl biotype	protein_coding
Entrez	391191

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000366480

RefSeq mRNA: 1 — MANE Select: NM_001004491 NM_001004491

CCDS: CCDS31102

Canonical transcript exons

ENST00000366480 — 1 exons

Exon	Start	End
ENSE00001441818	247965233	247966386

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 89.77.

Top tissues by expression

121 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	89.77	gold quality
bone marrow	UBERON:0002371	41.32	gold quality
lower esophagus mucosa	UBERON:0035834	38.98	gold quality
bone marrow cell	CL:0002092	38.80	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	36.53	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
primary visual cortex	UBERON:0002436	33.88	gold quality
prefrontal cortex	UBERON:0000451	33.65	silver quality
mucosa of stomach	UBERON:0001199	33.59	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
frontal cortex	UBERON:0001870	31.16	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
tonsil	UBERON:0002372	30.64	gold quality
right uterine tube	UBERON:0001302	30.36	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	29.37	gold quality
liver	UBERON:0002107	29.34	gold quality
blood	UBERON:0000178	28.93	gold quality
monocyte	CL:0000576	28.86	gold quality
leukocyte	CL:0000738	28.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
placenta	UBERON:0001987	27.78	gold quality
lymph node	UBERON:0000029	27.57	gold quality
spleen	UBERON:0002106	26.79	gold quality
islet of Langerhans	UBERON:0000006	26.55	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

14 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2ak6	ENSMUSG00000064044
mus_musculus	Or2ak4	ENSMUSG00000107677
mus_musculus	Or2ak7	ENSMUSG00000107711
mus_musculus	Or2ak5	ENSMUSG00000108265
rattus_norvegicus	Or2ak4c	ENSRNOG00000065470
rattus_norvegicus	Or2ak4e	ENSRNOG00000071794
rattus_norvegicus	Or2ak6c	ENSRNOG00000072421
rattus_norvegicus	Or2ak5d	ENSRNOG00000077365
rattus_norvegicus	Or2ak4	ENSRNOG00000080808
rattus_norvegicus	Or2ak5b	ENSRNOG00000082313
rattus_norvegicus	Or2ak4c	ENSRNOG00000085214
rattus_norvegicus	Or2ak5f	ENSRNOG00000085553
rattus_norvegicus	Or2ak5	ENSRNOG00000086996
rattus_norvegicus	Or2ak6e	ENSRNOG00000089309

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), OR2K2 (ENSG00000171133), 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)

Protein

Protein identifiers

Olfactory receptor 2AK2 — Q8NG84 (reviewed: Q8NG84)

Alternative names: Olfactory receptor 2AK1, Olfactory receptor OR1-47

All UniProt accessions (1): A0A2C9F2M8

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_001004491* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NG84-F1	86.93	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): 112–204

Glycosylation sites (1): 20

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 20 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, 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, 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

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2AK2	FAM229B	Q4G0N7	522
OR2AK2	NPIPB9	F8W1W9	504
OR2AK2	TMEM244	Q5VVB8	447
OR2AK2	IQCF1	Q8N6M8	432
OR2AK2	MMS22L	Q6ZRQ5	415
OR2AK2	APOL2	Q9BQE5	414
OR2AK2	TMEM60	Q9H2L4	378
OR2AK2	KICS2	Q96MD2	321
OR2AK2	PCDHB13	Q9Y5F0	321
OR2AK2	PCDHB6	Q9Y5E3	314
OR2AK2	PCDHB14	Q9Y5E9	314
OR2AK2	PCDHB4	Q9Y5E5	311
OR2AK2	PCDHB15	Q9Y5E8	311
OR2AK2	PCDHB10	Q9UN67	311
OR2AK2	PCDHB9	Q9Y5E1	311

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

293 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247965640:GA:G	donor_gain	1.0000
1:247965642:G:GG	donor_gain	0.9900
1:247965481:TACAG:T	acceptor_gain	0.9400
1:247965484:A:AG	acceptor_gain	0.9300
1:247965485:G:GG	acceptor_gain	0.9300
1:247965485:GTT:G	acceptor_gain	0.9100
1:247965311:A:AC	acceptor_gain	0.9000
1:247965387:G:GT	donor_gain	0.8900
1:247965485:G:T	acceptor_gain	0.8800
1:247965482:ACAG:A	acceptor_gain	0.8700
1:247965432:A:AG	acceptor_gain	0.8600
1:247965480:TTACA:T	acceptor_gain	0.8600
1:247965483:CAG:C	acceptor_gain	0.8300
1:247965484:A:T	acceptor_gain	0.8300
1:247965388:A:T	donor_gain	0.8100
1:247965484:AGTT:A	acceptor_gain	0.7800
1:247965485:GTTG:G	acceptor_gain	0.7800
1:247965485:GT:G	acceptor_gain	0.7600
1:247965638:CAGA:C	donor_gain	0.7500
1:247965913:TGAAG:T	acceptor_gain	0.7300
1:247965432:AATAT:A	acceptor_gain	0.7000
1:247965469:T:A	acceptor_gain	0.6600
1:247965639:AGAG:A	donor_loss	0.6600
1:247965641:AGT:A	donor_loss	0.6600
1:247965642:G:A	donor_loss	0.6600
1:247965643:T:TT	donor_loss	0.6600
1:247965646:G:A	donor_loss	0.6600
1:247965485:GTTGC:G	acceptor_gain	0.6300
1:247965914:GAAG:G	acceptor_gain	0.6300
1:247965639:AGA:A	donor_gain	0.6200

AlphaMissense

2074 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247966121:A:C	S264R	0.910
1:247966123:C:A	S264R	0.910
1:247966123:C:G	S264R	0.910
1:247965905:T:C	F192L	0.891
1:247965907:T:A	F192L	0.891
1:247965907:T:G	F192L	0.891
1:247965410:T:C	F27L	0.880
1:247965412:T:A	F27L	0.880
1:247965412:T:G	F27L	0.880
1:247966127:T:C	F266L	0.864
1:247966129:C:A	F266L	0.864
1:247966129:C:G	F266L	0.864
1:247965878:T:C	F183L	0.863
1:247965880:C:A	F183L	0.863
1:247965880:C:G	F183L	0.863
1:247965980:A:C	S217R	0.854
1:247965982:T:A	S217R	0.854
1:247965982:T:G	S217R	0.854
1:247965686:T:C	F119L	0.849
1:247965688:C:A	F119L	0.849
1:247965688:C:G	F119L	0.849
1:247965908:T:C	F193L	0.848
1:247965910:C:A	F193L	0.848
1:247965910:C:G	F193L	0.848
1:247965629:T:C	F100L	0.847
1:247965631:C:A	F100L	0.847
1:247965631:C:G	F100L	0.847
1:247965730:G:A	M133I	0.832
1:247965730:G:C	M133I	0.832
1:247965730:G:T	M133I	0.832

dbSNP variants (sampled 300 via entrez): RS1001008245 (1:247966320 A>G,T), RS1003403095 (1:247964171 C>T), RS1005234155 (1:247965280 T>A,C), RS1005522643 (1:247964462 A>G,T), RS1005986418 (1:247964195 A>G), RS1006240344 (1:247963766 A>G), RS1006904056 (1:247966383 G>T), RS1007330972 (1:247966661 T>C), RS1008522431 (1:247963255 C>G,T), RS1008774565 (1:247965970 A>C), RS1009599606 (1:247966686 A>T), RS1011829208 (1:247963630 T>C), RS1012275096 (1:247963412 C>T), RS1012907255 (1:247964502 C>T), RS1012997916 (1:247964125 C>A,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

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	affects cotreatment, increases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Copper	affects cotreatment, decreases expression	1
Phthalic Acids	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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