OR2A4

Summary

OR2A4 (olfactory receptor family 2 subfamily A member 4, HGNC:14729) is a protein-coding gene on chromosome 6q23.2, encoding Olfactory receptor 2A4 (O95047). 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 79541 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_030908

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14729
Approved symbol	OR2A4
Name	olfactory receptor family 2 subfamily A member 4
Location	6q23.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180658
Ensembl biotype	protein_coding
Entrez	79541

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000315453

RefSeq mRNA: 1 — MANE Select: NM_030908 NM_030908

CCDS: CCDS5149

Canonical transcript exons

ENST00000315453 — 1 exons

Exon	Start	End
ENSE00002432871	131699644	131701401

Expression profiles

Bgee: expression breadth broad, 77 present calls, max score 63.05.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	63.05	gold quality
mucosa of transverse colon	UBERON:0004991	55.15	gold quality
bone marrow cell	CL:0002092	54.50	silver quality
ventricular zone	UBERON:0003053	54.37	gold quality
sural nerve	UBERON:0015488	50.95	gold quality
adrenal tissue	UBERON:0018303	47.88	gold quality
right coronary artery	UBERON:0001625	44.96	gold quality
bone marrow	UBERON:0002371	44.96	silver quality
endometrium	UBERON:0001295	43.84	gold quality
tonsil	UBERON:0002372	43.28	silver quality
ganglionic eminence	UBERON:0004023	41.88	gold quality
placenta	UBERON:0001987	39.38	gold quality
granulocyte	CL:0000094	39.32	gold quality
stromal cell of endometrium	CL:0002255	39.27	gold quality
liver	UBERON:0002107	38.98	gold quality
muscle tissue	UBERON:0002385	38.02	silver quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.17	silver quality
duodenum	UBERON:0002114	35.99	gold quality
cortex of kidney	UBERON:0001225	35.73	gold quality
right uterine tube	UBERON:0001302	35.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	35.63	gold quality
blood	UBERON:0000178	35.19	gold quality
left adrenal gland cortex	UBERON:0035825	33.98	silver quality
primary visual cortex	UBERON:0002436	33.54	gold quality
right lobe of liver	UBERON:0001114	33.14	silver quality
saliva-secreting gland	UBERON:0001044	32.92	gold quality
left uterine tube	UBERON:0001303	32.87	gold quality
urinary bladder	UBERON:0001255	32.83	gold quality
endocervix	UBERON:0000458	32.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting OR2A4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-6846-5P	98.81	65.86	1121

Literature-anchored findings (GeneRIF, showing 1)

• Proliferation tests, ELISA and kinase array indicated that OR2A4/7 and CHS play important roles in the proliferation of HaCaT cells and keratinocytes. (PMID:27315375)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2a7	ENSMUSG00000043605
rattus_norvegicus	Or2a7	ENSRNOG00000065711

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 2A4 — O95047 (reviewed: O95047)

Alternative names: Olfactory receptor 2A10, Olfactory receptor OR6-37

All UniProt accessions (2): A0A126GVW2, O95047

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_112170* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (17 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95047-F1	79.12	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 4

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 69 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_POSITIVE_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION

GO Biological Process (6): positive regulation of cytokinesis (GO:0032467), regulation of actin cytoskeleton organization (GO:0032956), 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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

GO Cellular Component (7): membrane (GO:0016020), cleavage furrow (GO:0032154), recycling endosome (GO:0055037), Flemming body (GO:0090543), mitotic spindle pole (GO:0097431), mitotic spindle midzone (GO:1990023), plasma membrane (GO:0005886)

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
cellular anatomical structure	2
mitotic spindle	2
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	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
sensory perception of chemical stimulus	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
cell division site	1
plasma membrane region	1
endosome	1
midbody	1
spindle pole	1
spindle midzone	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

200 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2A4	TAS2R13	Q9NYV9	476
OR2A4	CNGA2	Q16280	434
OR2A4	VN1R1	Q9GZP7	430
OR2A4	ADCY3	O60266	419
OR2A4	RTP2	Q5QGT7	401
OR2A4	CNGA4	Q8IV77	355
OR2A4	GNAL	P38405	332
OR2A4	RTP1	P59025	311
OR2A4	ANO2	Q9NQ90	303
OR2A4	REEP1	Q9H902	298
OR2A4	OMP	P47874	277
OR2A4	TAAR2	Q9P1P5	269
OR2A4	GNG8	Q9UK08	263
OR2A4	TAAR5	O14804	257
OR2A4	GPR22	Q99680	248

IntAct

3 interactions, top by confidence:

A	B	Type	Score
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
OR2A4	DCX	psi-mi:“MI:0914”(association)	0.350

BioGRID (144): S100P (Affinity Capture-MS), S100A9 (Affinity Capture-MS), PLA2G4D (Affinity Capture-MS), LGALS7B (Affinity Capture-MS), NDRG2 (Affinity Capture-MS), IL36A (Affinity Capture-MS), IGLC6 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), S100A8 (Affinity Capture-MS), LCN2 (Affinity Capture-MS), LCP1 (Affinity Capture-MS), SCEL (Affinity Capture-MS), IL36RN (Affinity Capture-MS), ANXA1 (Affinity Capture-MS), SERPINB5 (Affinity Capture-MS)

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, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

235 predictions. Top by Δscore:

Variant	Effect	Δscore
6:131700965:G:C	donor_gain	0.9500
6:131700950:C:CA	donor_gain	0.9100
6:131700990:T:A	donor_gain	0.9100
6:131701164:T:TA	donor_gain	0.8400
6:131701053:TCACC:T	donor_gain	0.8000
6:131701229:A:C	donor_gain	0.7900
6:131701154:T:TC	donor_gain	0.7800
6:131700898:A:AC	donor_gain	0.7500
6:131700899:C:CC	donor_gain	0.7500
6:131701174:C:CT	donor_gain	0.7400
6:131701051:CA:C	donor_gain	0.7200
6:131701201:G:GT	donor_gain	0.7100
6:131700710:T:TA	donor_gain	0.6900
6:131700970:C:CT	donor_gain	0.6900
6:131701160:A:T	donor_gain	0.6800
6:131700724:C:CC	acceptor_gain	0.6700
6:131701207:CAGG:C	acceptor_gain	0.6700
6:131701224:A:AC	donor_gain	0.6700
6:131700731:A:AC	acceptor_gain	0.6600
6:131701038:A:AC	donor_gain	0.6600
6:131701039:C:CC	donor_gain	0.6600
6:131701039:CAGAT:C	donor_gain	0.6600
6:131700949:T:TA	donor_gain	0.6500
6:131701139:G:C	donor_gain	0.6500
6:131700941:A:AC	donor_gain	0.6400
6:131701156:C:T	donor_gain	0.6400
6:131700900:A:C	donor_gain	0.6300
6:131701051:CATCA:C	donor_gain	0.6300
6:131700699:T:A	donor_gain	0.6200
6:131701159:C:CT	donor_gain	0.6200

AlphaMissense

2002 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:131701354:A:C	F16L	0.716
6:131701354:A:T	F16L	0.716
6:131701356:A:G	F16L	0.716
6:131700901:G:C	F167L	0.702
6:131700901:G:T	F167L	0.702
6:131700903:A:G	F167L	0.702
6:131701369:G:C	F11L	0.679
6:131701369:G:T	F11L	0.679
6:131701371:A:G	F11L	0.679
6:131701312:G:C	F30L	0.616
6:131701312:G:T	F30L	0.616
6:131701314:A:G	F30L	0.616
6:131701321:A:C	F27L	0.614
6:131701321:A:T	F27L	0.614
6:131701323:A:G	F27L	0.614
6:131701099:A:C	F101L	0.597
6:131701099:A:T	F101L	0.597
6:131701101:A:G	F101L	0.597
6:131700874:A:C	F176L	0.590
6:131700874:A:T	F176L	0.590
6:131700876:A:G	F176L	0.590
6:131700574:A:C	F276L	0.585
6:131700574:A:T	F276L	0.585
6:131700576:A:G	F276L	0.585
6:131701093:A:C	F103L	0.579
6:131701093:A:T	F103L	0.579
6:131701095:A:G	F103L	0.579
6:131701123:A:C	F93L	0.573
6:131701123:A:T	F93L	0.573
6:131701125:A:G	F93L	0.573

dbSNP variants (sampled 300 via entrez): RS1001766597 (6:131703067 GTTAAC>G), RS1002215798 (6:131702228 T>G), RS1006401179 (6:131701593 T>C), RS1009867853 (6:131703320 A>G), RS1016473752 (6:131702112 A>C,G), RS1019943188 (6:131703362 TA>T,TAA), RS1019997282 (6:131702392 G>C), RS1029045452 (6:131699260 T>A,C), RS1035351555 (6:131702259 A>T), RS1036373681 (6:131703138 G>A), RS1039032959 (6:131701358 CCCAGT>C), RS1047809379 (6:131702907 T>C), RS1047860740 (6:131701460 C>T), RS112320357 (6:131701990 A>G), RS113536491 (6:131700021 T>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

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
aristolochic acid I	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Methotrexate	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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