OR4Q2

Summary

OR4Q2 (olfactory receptor family 4 subfamily Q member 2 (gene/pseudogene), HGNC:15359) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 4Q2 (P0C623). 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 390432 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15359
Approved symbol	OR4Q2
Name	olfactory receptor family 4 subfamily Q member 2 (gene/pseudogene)
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196383
Ensembl biotype	protein_coding
Entrez	390432

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000541415

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000541415 — 3 exons

Exon	Start	End
ENSE00002318811	20002148	20004760
ENSE00003812103	19999913	20000009
ENSE00003812433	20000120	20000187

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 38.05.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	38.05	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	35.20	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
leukocyte	CL:0000738	29.10	gold quality
lymph node	UBERON:0000029	28.77	gold quality
liver	UBERON:0002107	28.73	gold quality
cortex of kidney	UBERON:0001225	28.67	gold quality
monocyte	CL:0000576	28.59	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.37	gold quality
right adrenal gland cortex	UBERON:0035827	27.29	gold quality
tonsil	UBERON:0002372	27.05	gold quality
adrenal tissue	UBERON:0018303	26.85	gold quality
blood	UBERON:0000178	26.75	gold quality
superior frontal gyrus	UBERON:0002661	26.75	gold quality
urinary bladder	UBERON:0001255	26.61	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
kidney	UBERON:0002113	26.21	gold quality
endometrium	UBERON:0001295	26.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.12

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 4Q2 — P0C623 (reviewed: P0C623)

Alternative names: olfactory receptor OR14-21

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A single nucleotide insertion at position Cys-180 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene.

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

RefSeq proteins (0): (*=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 (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C623-F1	87.63	0.56

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): 98–181

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: 15 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, chr14q11, GOBP_NERVOUS_SYSTEM_PROCESS

GO Biological Process (0):

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (1): 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
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20002239:GGCTA:G	donor_gain	0.8800
14:20002801:T:TA	acceptor_gain	0.8300
14:20002391:G:GG	donor_gain	0.7200
14:20002373:GACC:G	donor_gain	0.6900
14:20002568:GTCA:G	donor_gain	0.6900
14:20002569:TCAT:T	donor_gain	0.6900
14:20002390:A:AG	donor_gain	0.6800
14:20002401:C:CG	donor_gain	0.6800
14:20002232:G:GT	donor_gain	0.6600
14:20002934:C:G	acceptor_gain	0.6300
14:20002571:A:AG	donor_gain	0.6200
14:20002762:T:TA	acceptor_gain	0.6200
14:20002401:C:G	donor_gain	0.6000
14:20002855:G:GT	donor_gain	0.5800
14:20002832:A:AG	acceptor_gain	0.5700
14:20002833:G:GG	acceptor_gain	0.5700
14:20002250:C:CG	donor_gain	0.5600
14:20002579:GGGGT:G	donor_gain	0.5600
14:20002773:AGTG:A	acceptor_gain	0.5600
14:20002774:GTGG:G	acceptor_gain	0.5600
14:20002821:A:AG	acceptor_gain	0.5600
14:20002934:C:CA	acceptor_gain	0.5600
14:20002571:A:G	donor_gain	0.5400
14:20002802:G:A	acceptor_gain	0.5400
14:20002687:G:GA	donor_gain	0.5300
14:20003037:GAG:G	donor_gain	0.5300
14:20002686:TGG:T	donor_gain	0.5200
14:20002773:A:AG	acceptor_gain	0.5200
14:20002774:G:GG	acceptor_gain	0.5200
14:20002930:T:G	acceptor_gain	0.5100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000928368 (14:20001307 G>GA), RS1001354427 (14:20002415 G>T), RS1001408405 (14:20001974 T>C), RS1002358610 (14:20001002 TA>T), RS1002416477 (14:20001487 T>A), RS1004762772 (14:20001928 C>T), RS1005707855 (14:20000277 C>T), RS1007320740 (14:20002381 T>G), RS1007392858 (14:20002106 T>G), RS1007423809 (14:20001793 T>A), RS1008128735 (14:20001652 A>G), RS1008362627 (14:20003207 A>C,G), RS1008416394 (14:20002940 T>A,C), RS1009165020 (14:20002867 C>T), RS1009523416 (14:20003033 C>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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1

Clinical trials (associated diseases)

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