OR2M4

Summary

OR2M4 (olfactory receptor family 2 subfamily M member 4, HGNC:8270) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2M4 (Q96R27). 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 26245 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_017504

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8270
Approved symbol	OR2M4
Name	olfactory receptor family 2 subfamily M member 4
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRX18, TPCR100, HSHTPCRX18, OST710
Ensembl gene	ENSG00000171180
Ensembl biotype	protein_coding
Entrez	26245

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641868

RefSeq mRNA: 1 — MANE Select: NM_017504 NM_017504

CCDS: CCDS31108

Canonical transcript exons

ENST00000641868 — 2 exons

Exon	Start	End
ENSE00003812037	248231417	248231580
ENSE00003812108	248238910	248244679

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 50.98.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	50.98	gold quality
prefrontal cortex	UBERON:0000451	48.45	silver quality
superior frontal gyrus	UBERON:0002661	45.35	silver quality
cortical plate	UBERON:0005343	43.41	gold quality
primary visual cortex	UBERON:0002436	42.79	silver quality
frontal cortex	UBERON:0001870	42.76	silver quality
sural nerve	UBERON:0015488	39.94	gold quality
ventricular zone	UBERON:0003053	39.82	gold quality
skeletal muscle tissue	UBERON:0001134	39.09	gold quality
stromal cell of endometrium	CL:0002255	38.57	gold quality
blood	UBERON:0000178	38.53	gold quality
monocyte	CL:0000576	38.34	gold quality
bone marrow cell	CL:0002092	38.24	gold quality
bone marrow	UBERON:0002371	38.18	gold quality
calcaneal tendon	UBERON:0003701	38.14	gold quality
leukocyte	CL:0000738	37.85	gold quality
liver	UBERON:0002107	37.48	gold quality
muscle tissue	UBERON:0002385	37.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	37.28	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.12	gold quality
apex of heart	UBERON:0002098	37.02	gold quality
muscle of leg	UBERON:0001383	36.89	gold quality
gastrocnemius	UBERON:0001388	36.33	gold quality
endometrium	UBERON:0001295	35.81	gold quality
right lobe of liver	UBERON:0001114	34.96	gold quality
right frontal lobe	UBERON:0002810	34.75	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	34.67	gold quality
granulocyte	CL:0000094	34.38	gold quality
mucosa of transverse colon	UBERON:0004991	34.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09
E-CURD-89	no	29.08

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), 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 2M4 — Q96R27 (reviewed: Q96R27)

Alternative names: HTPCRX18, OST710, Olfactory receptor OR1-55, Olfactory receptor TPCR100

All UniProt accessions (2): A0A126GV73, Q96R27

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_059974* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence conflict 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96R27-F1	86.18	0.49

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: 23 (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, WP_GPCRS_OTHER, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

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 chemical stimulus	1
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
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

242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2M4	TAS2R60	P59551	575
OR2M4	CCER1	Q8TC90	446
OR2M4	F2Z2I4	F2Z2I4	419
OR2M4	DEFB130A	P0DP74	418
OR2M4	IGHV3-72	A0A0B4J1Y9	418
OR2M4	RTP1	P59025	401
OR2M4	RHO	P08100	394
OR2M4	ZNF608	Q9ULD9	359
OR2M4	GFY	I3L273	358
OR2M4	DEFB118	Q96PH6	353
OR2M4	SMR3B	P02814	348
OR2M4	R3HDM2	Q9Y2K5	336
OR2M4	FRMD1	Q8N878	324
OR2M4	CCDC181	Q5TID7	321
OR2M4	A0A140T9Z0	A0A140T9Z0	308

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

136 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248239588:T:G	acceptor_gain	0.7400
1:248239192:G:T	donor_gain	0.6700
1:248239595:C:CA	acceptor_gain	0.6500
1:248239216:T:TA	donor_gain	0.6300
1:248239192:G:GT	donor_gain	0.6000
1:248239558:A:T	acceptor_gain	0.6000
1:248239668:T:TA	acceptor_gain	0.6000
1:248239217:T:TA	donor_gain	0.5900
1:248239559:G:T	acceptor_gain	0.5900
1:248239557:CAG:C	acceptor_gain	0.5800
1:248239588:T:TA	acceptor_gain	0.5800
1:248239556:CCA:C	acceptor_gain	0.5700
1:248239587:A:AG	acceptor_gain	0.5400
1:248239180:C:G	donor_gain	0.5200
1:248239212:C:T	donor_gain	0.5000
1:248239445:G:GT	donor_gain	0.5000
1:248239598:GCC:G	acceptor_gain	0.5000
1:248239587:AT:A	acceptor_gain	0.4800
1:248239596:G:C	acceptor_gain	0.4800
1:248239446:A:T	donor_gain	0.4700
1:248239555:TCCAG:T	acceptor_gain	0.4700
1:248239229:A:G	donor_gain	0.4600
1:248239600:C:A	acceptor_gain	0.4600
1:248239852:A:T	donor_gain	0.4600
1:248239467:AT:A	donor_gain	0.4500
1:248239594:TCG:T	acceptor_gain	0.4300
1:248239294:C:G	donor_gain	0.4200
1:248239799:A:AG	acceptor_gain	0.4200
1:248239800:G:GG	acceptor_gain	0.4200
1:248239218:G:GG	donor_gain	0.4100

AlphaMissense

2042 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:248239457:T:C	F177L	0.830
1:248239459:T:A	F177L	0.830
1:248239459:T:G	F177L	0.830
1:248238962:T:C	F12L	0.828
1:248238964:C:A	F12L	0.828
1:248238964:C:G	F12L	0.828
1:248239460:T:C	F178L	0.813
1:248239462:C:A	F178L	0.813
1:248239462:C:G	F178L	0.813
1:248239511:T:C	F195L	0.805
1:248239513:T:A	F195L	0.805
1:248239513:T:G	F195L	0.805
1:248238980:T:C	F18L	0.790
1:248238982:C:A	F18L	0.790
1:248238982:C:G	F18L	0.790
1:248239373:T:A	W149R	0.755
1:248239373:T:C	W149R	0.755
1:248239799:A:C	S291R	0.754
1:248239801:C:A	S291R	0.754
1:248239801:C:G	S291R	0.754
1:248239031:T:C	F35L	0.739
1:248239033:C:A	F35L	0.739
1:248239033:C:G	F35L	0.739
1:248239757:T:C	F277L	0.738
1:248239759:C:A	F277L	0.738
1:248239759:C:G	F277L	0.738
1:248239282:G:A	M118I	0.724
1:248239282:G:C	M118I	0.724
1:248239282:G:T	M118I	0.724
1:248239010:T:C	F28L	0.714

dbSNP variants (sampled 300 via entrez): RS1000305835 (1:248229682 C>T), RS1000638218 (1:248240652 A>C,T), RS1000967718 (1:248240196 T>A), RS1000992082 (1:248234377 C>T), RS1001006193 (1:248239706 A>G,T), RS1001037226 (1:248239991 A>T), RS1001044512 (1:248234520 A>C,T), RS1001144411 (1:248233622 A>G), RS1001489401 (1:248233303 C>G), RS1001583317 (1:248231035 C>A,T), RS1001634783 (1:248242836 T>C), RS1001927630 (1:248230818 C>G), RS1002202258 (1:248240364 A>G), RS1002237572 (1:248241508 T>C,G), RS1002532829 (1:248241634 A>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

1 associations (top):

Study	Trait	p-value
GCST003130_3	Autism spectrum disorder	8.000000e-06

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
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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