OR2M2

Summary

OR2M2 (olfactory receptor family 2 subfamily M member 2, HGNC:8268) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2M2 (Q96R28). 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 391194 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_001004688

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8268
Approved symbol	OR2M2
Name	olfactory receptor family 2 subfamily M member 2
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	OST423, OR2M2Q
Ensembl gene	ENSG00000198601
Ensembl biotype	protein_coding
Entrez	391194

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641211, ENST00000641836

RefSeq mRNA: 1 — MANE Select: NM_001004688 NM_001004688

CCDS: CCDS31106

Canonical transcript exons

ENST00000641836 — 2 exons

Exon	Start	End
ENSE00003813690	248174821	248174871
ENSE00003814092	248179968	248181067

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 89.02.

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	89.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.45	gold quality
colonic epithelium	UBERON:0000397	51.46	gold quality
bone marrow cell	CL:0002092	38.24	gold quality
granulocyte	CL:0000094	37.31	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
skeletal muscle tissue	UBERON:0001134	35.10	gold quality
bone marrow	UBERON:0002371	32.81	gold quality
muscle tissue	UBERON:0002385	32.32	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
primary visual cortex	UBERON:0002436	30.86	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.12	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.83	gold quality
leukocyte	CL:0000738	26.66	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.46	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
monocyte	CL:0000576	25.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.19	gold quality
pancreas	UBERON:0001264	24.68	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

0 orthologs

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 2M2 — Q96R28 (reviewed: Q96R28)

Alternative names: OST423

All UniProt accessions (2): Q96R28, A0A126GWI7

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_001004688* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (24 total): topological domain 8, transmembrane region 7, sequence variant 4, glycosylation site 2, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96R28-F1	79.24	0.34

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 (2): 5, 190

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2M2	KRTAP1-4	P0C5Y4	527
OR2M2	RASL10B	Q96S79	396
OR2M2	PCDHGA1	Q9Y5H4	393
OR2M2	CWH43	Q9H720	376
OR2M2	DIRAS1	O95057	376
OR2M2	SNX19	Q92543	326
OR2M2	SAFB2	Q14151	325
OR2M2	KRT71	Q3SY84	322
OR2M2	INPP5J	Q15735	314
OR2M2	PCDHA1	Q9Y5I3	311
OR2M2	CANT1	Q8WVQ1	302
OR2M2	ARHGEF26	Q96DR7	301
OR2M2	EVI5	O60447	300
OR2M2	RHOBTB3	O94955	290
OR2M2	CNTN3	Q9P232	263

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

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

187 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248180621:A:AG	acceptor_gain	0.8200
1:248180622:A:G	acceptor_gain	0.6900
1:248180639:T:G	acceptor_gain	0.6400
1:248180628:ATT:A	acceptor_gain	0.6200
1:248180721:ATGGT:A	acceptor_gain	0.6200
1:248180618:T:A	acceptor_gain	0.6100
1:248180722:T:TA	acceptor_gain	0.5900
1:248180909:C:T	donor_gain	0.5800
1:248180668:T:G	acceptor_gain	0.5700
1:248180630:T:TA	acceptor_gain	0.5600
1:248180628:A:AG	acceptor_gain	0.5500
1:248180667:AT:A	acceptor_gain	0.5500
1:248180273:T:TA	donor_gain	0.5400
1:248180721:AT:A	acceptor_gain	0.5400
1:248180726:G:GA	donor_gain	0.5400
1:248180252:C:T	donor_gain	0.5300
1:248180918:GA:G	donor_gain	0.5300
1:248180638:AT:A	acceptor_gain	0.5200
1:248180878:C:G	donor_gain	0.5200
1:248180684:T:TA	donor_gain	0.5100
1:248180595:AT:A	donor_gain	0.5000
1:248180638:A:AG	acceptor_gain	0.5000
1:248180601:A:AG	donor_gain	0.4900
1:248180629:T:G	acceptor_gain	0.4800
1:248180903:A:T	donor_gain	0.4800
1:248180916:GAGA:G	donor_gain	0.4600
1:248180668:T:TA	acceptor_gain	0.4500
1:248180920:G:GG	donor_gain	0.4500
1:248180667:ATGG:A	acceptor_gain	0.4400
1:248180871:G:GT	donor_gain	0.4400

AlphaMissense

2305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:248180514:T:C	F177L	0.918
1:248180516:C:A	F177L	0.918
1:248180516:C:G	F177L	0.918
1:248180019:T:C	F12L	0.906
1:248180021:C:A	F12L	0.906
1:248180021:C:G	F12L	0.906
1:248180520:T:A	C179S	0.895
1:248180521:G:C	C179S	0.895
1:248180339:G:A	M118I	0.884
1:248180339:G:C	M118I	0.884
1:248180339:G:T	M118I	0.884
1:248180856:A:C	S291R	0.884
1:248180858:C:A	S291R	0.884
1:248180858:C:G	S291R	0.884
1:248180274:T:A	C97S	0.876
1:248180275:G:C	C97S	0.876
1:248180430:T:A	W149R	0.874
1:248180430:T:C	W149R	0.874
1:248180517:T:C	F178L	0.868
1:248180519:C:A	F178L	0.868
1:248180519:C:G	F178L	0.868
1:248180521:G:A	C179Y	0.864
1:248180276:T:G	C97W	0.859
1:248180274:T:C	C97R	0.858
1:248180285:A:C	Q100H	0.857
1:248180285:A:T	Q100H	0.857
1:248180520:T:C	C179R	0.856
1:248180350:G:C	R122P	0.855
1:248180037:T:C	F18L	0.853
1:248180039:C:A	F18L	0.853

dbSNP variants (sampled 300 via entrez): RS1000461712 (1:248177756 G>C), RS1000546474 (1:248176037 A>G), RS1000978013 (1:248181480 T>G), RS1001783809 (1:248174658 A>C), RS1002104791 (1:248178790 G>A), RS1002137522 (1:248179052 T>C), RS1002384321 (1:248173005 C>A), RS1002573548 (1:248175492 A>G), RS1003002625 (1:248176367 A>G,T), RS1003437927 (1:248178185 C>T), RS1004220556 (1:248180022 A>G), RS1004281259 (1:248173643 C>T), RS1004293064 (1:248176844 G>A), RS1004325568 (1:248177190 C>G), RS1004649457 (1:248173797 C>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

1 associations (top):

Study	Trait	p-value
GCST008526_33	Coffee consumption	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006781	coffee consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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