OR4X2

Summary

OR4X2 (olfactory receptor family 4 subfamily X member 2, HGNC:15184) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4X2 (Q8NGF9). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 119764 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_001004727

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15184
Approved symbol	OR4X2
Name	olfactory receptor family 4 subfamily X member 2
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172208
Ensembl biotype	protein_coding
Entrez	119764

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624868

RefSeq mRNA: 1 — MANE Select: NM_001004727 NM_001004727

Canonical transcript exons

ENST00000624868 — 1 exons

Exon	Start	End
ENSE00003989334	48245104	48246015

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 48.48.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	48.48	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
sural nerve	UBERON:0015488	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
liver	UBERON:0002107	28.32	gold quality
monocyte	CL:0000576	28.30	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	27.10	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	27.02	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	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	25.06	gold quality
calcaneal tendon	UBERON:0003701	24.97	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.48	gold quality
frontal cortex	UBERON:0001870	24.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4x11	ENSMUSG00000059910
mus_musculus	Or4x15	ENSMUSG00000075064
mus_musculus	Or4x12	ENSMUSG00000075067
mus_musculus	Or4x13	ENSMUSG00000082980
mus_musculus	Or4x6	ENSMUSG00000084336
mus_musculus	Or4x18	ENSMUSG00000089859
rattus_norvegicus	Or4x13	ENSRNOG00000075319
rattus_norvegicus	Or4x11c	ENSRNOG00000075781
rattus_norvegicus	Or4x6	ENSRNOG00000087687
rattus_norvegicus	Or4x11	ENSRNOG00000091094

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), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4X2 — Q8NGF9 (reviewed: Q8NGF9)

Alternative names: Olfactory receptor OR11-105

All UniProt accessions (2): A0A126GVL5, Q8NGF9

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon in the gene coding for this protein at position Tyr-27 is responsible for functional diversity thus producing a pseudogene.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004727* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGF9-F1	85.13	0.38

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): 89–181

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	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, 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, chr11p11

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

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

170 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4X2	LNPK	Q9C0E8	584
OR4X2	TBC1D3D	A0A087WVF3	573
OR4X2	C9orf43	Q8TAL5	571
OR4X2	NALCN	Q8IZF0	545
OR4X2	TBC1D3G	Q6DHY5	507
OR4X2	TBC1D3	Q8IZP1	507
OR4X2	GEMIN8	Q9NWZ8	506
OR4X2	ADGRG4	Q8IZF6	488
OR4X2	SLC6A18	Q96N87	483
OR4X2	ARSG	Q96EG1	480
OR4X2	GNAL	P38405	381
OR4X2	ANO3	Q9BYT9	376
OR4X2	THAP1	Q9NVV9	324
OR4X2	PRKRA	O75569	323
OR4X2	TOR1A	O14656	301
OR4X2	TMTC1	Q8IUR5	301

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR4X2	PCBP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): MTL5 (Affinity Capture-MS), XAF1 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), FAM92B (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

109 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48245347:A:T	donor_gain	0.8700
11:48245880:A:AG	acceptor_gain	0.7400
11:48245881:G:GG	acceptor_gain	0.7400
11:48245346:G:GT	donor_gain	0.6800
11:48245833:G:A	acceptor_gain	0.6800
11:48245832:T:TA	acceptor_gain	0.6700
11:48245494:C:T	donor_gain	0.6600
11:48245494:CAGG:C	donor_loss	0.6500
11:48245495:AG:A	donor_loss	0.6500
11:48245496:GGTG:G	donor_loss	0.6500
11:48245497:G:T	donor_loss	0.6500
11:48245498:T:G	donor_loss	0.6500
11:48245143:G:GT	donor_gain	0.5700
11:48245499:GTG:G	donor_loss	0.5500
11:48245500:TGT:T	donor_loss	0.5500
11:48245492:GGCAG:G	donor_gain	0.5300
11:48245493:GCAGG:G	donor_gain	0.5300
11:48245777:G:GA	donor_gain	0.5200
11:48245881:GACAA:G	acceptor_gain	0.5000
11:48245501:G:C	donor_loss	0.4600
11:48245776:T:TA	donor_gain	0.4500
11:48245775:G:T	donor_gain	0.4400
11:48245622:A:AG	acceptor_gain	0.4300
11:48245623:G:GG	acceptor_gain	0.4300
11:48245493:GCAG:G	donor_gain	0.4200
11:48245664:T:A	acceptor_gain	0.4200
11:48245779:TGCA:T	donor_gain	0.4200
11:48245497:G:GG	donor_gain	0.4100
11:48245946:G:GC	acceptor_gain	0.4000
11:48245148:GC:G	donor_gain	0.3800

AlphaMissense

1999 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48245581:T:C	F160L	0.670
11:48245583:C:A	F160L	0.670
11:48245583:C:G	F160L	0.670
11:48245113:T:C	F4L	0.662
11:48245115:C:A	F4L	0.662
11:48245115:C:G	F4L	0.662
11:48245170:T:C	F23L	0.630
11:48245172:T:A	F23L	0.630
11:48245172:T:G	F23L	0.630
11:48245830:T:C	F243L	0.602
11:48245832:T:A	F243L	0.602
11:48245832:T:G	F243L	0.602
11:48245383:T:C	F94L	0.577
11:48245385:C:A	F94L	0.577
11:48245385:C:G	F94L	0.577
11:48245845:T:C	F248L	0.571
11:48245847:C:A	F248L	0.571
11:48245847:C:G	F248L	0.571

dbSNP variants (sampled 300 via entrez): RS1000870843 (11:48243756 G>C,T), RS1000921729 (11:48243951 A>G), RS1001538798 (11:48245618 A>G), RS1002671628 (11:48243407 T>C), RS1004027926 (11:48246493 C>G), RS1004335311 (11:48244255 C>A,T), RS1005028891 (11:48245522 C>T), RS1005122088 (11:48245269 A>G), RS1006124634 (11:48244174 G>A), RS1006566398 (11:48243138 C>T), RS1007036249 (11:48243235 G>C), RS1007132684 (11:48243118 C>T), RS1007674800 (11:48246092 G>A,T), RS1007687550 (11:48246368 C>A), RS1008223969 (11:48243970 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
GCST010774_12	Essential hypertension (time to event)	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004918	age at diagnosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Silicon Dioxide	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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