OR51I2

Summary

OR51I2 (olfactory receptor family 51 subfamily I member 2, HGNC:15201) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51I2 (Q9H344). 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 390064 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001004754

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15201
Approved symbol	OR51I2
Name	olfactory receptor family 51 subfamily I member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187918
Ensembl biotype	protein_coding
Entrez	390064

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641930

RefSeq mRNA: 1 — MANE Select: NM_001004754 NM_001004754

CCDS: CCDS31383

Canonical transcript exons

ENST00000641930 — 2 exons

Exon	Start	End
ENSE00003812328	5449323	5449364
ENSE00003812604	5453259	5456518

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 78.73.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	78.73	silver quality
ileal mucosa	UBERON:0000331	78.27	silver quality
pancreatic ductal cell	CL:0002079	75.78	silver quality
deltoid	UBERON:0001476	62.66	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
quadriceps femoris	UBERON:0001377	52.38	gold quality
amniotic fluid	UBERON:0000173	51.71	gold quality
myocardium	UBERON:0002349	50.25	gold quality
vastus lateralis	UBERON:0001379	49.89	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
colonic epithelium	UBERON:0000397	46.97	gold quality
skin of hip	UBERON:0001554	44.67	silver quality
upper leg skin	UBERON:0004262	43.61	silver quality
bone marrow	UBERON:0002371	43.57	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
palpebral conjunctiva	UBERON:0001812	41.78	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
bone marrow cell	CL:0002092	40.96	gold quality
dorsal plus ventral thalamus	UBERON:0001897	40.95	gold quality
cartilage tissue	UBERON:0002418	40.77	gold quality
subthalamic nucleus	UBERON:0001906	40.75	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.11

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51i2	ENSMUSG00000073932
rattus_norvegicus	Or51i2	ENSRNOG00000016964

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51I2 — Q9H344 (reviewed: Q9H344)

Alternative names: Odorant receptor HOR5’beta12, Olfactory receptor OR11-38

All UniProt accessions (2): A0A126GVE9, Q9H344

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_001004754* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H344-F1	90.87	0.71

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: 19 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, 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, NCOA4_TARGET_GENES, REACTOME_SENSORY_PERCEPTION

GO Biological Process (6): sensory perception of smell (GO:0007608), cellular response to lipid (GO:0071396), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

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
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	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 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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51I2	KRTAP12-3	P60328	593
OR51I2	GARIN2	Q8N9W8	545
OR51I2	TMEM235	A6NFC5	541
OR51I2	WDR38	Q5JTN6	492
OR51I2	TAS2R41	P59536	477
OR51I2	C1QTNF8	P60827	447
OR51I2	NWD1	Q149M9	425
OR51I2	SNAPC4	Q5SXM2	413
OR51I2	EMC4	Q5J8M3	406
OR51I2	SPATA31D3	P0C874	399
OR51I2	LVRN	Q6Q4G3	383
OR51I2	TMEM132C	Q8N3T6	383
OR51I2	NPBWR2	P48146	370
OR51I2	DDX49	Q9Y6V7	364
OR51I2	SPATA31D4	Q6ZUB0	356

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

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

364 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5450989:A:AC	donor_gain	0.9000
11:5455172:T:TG	acceptor_gain	0.7600
11:5455746:A:T	acceptor_gain	0.7300
11:5454142:T:TA	acceptor_gain	0.7200
11:5454365:A:AG	acceptor_gain	0.7100
11:5454366:G:GG	acceptor_gain	0.7100
11:5450927:T:C	acceptor_gain	0.6900
11:5451763:T:TC	acceptor_gain	0.6900
11:5453979:A:G	acceptor_gain	0.6900
11:5454141:AT:A	acceptor_gain	0.6800
11:5454142:T:G	acceptor_gain	0.6700
11:5454366:GC:G	acceptor_gain	0.6700
11:5453588:AT:A	donor_gain	0.6500
11:5454364:TAGCG:T	acceptor_loss	0.6500
11:5454366:G:GT	acceptor_loss	0.6500
11:5450927:TTAAA:T	acceptor_gain	0.6300
11:5454023:T:A	acceptor_gain	0.6300
11:5454141:ATGT:A	acceptor_gain	0.6200
11:5454343:T:TA	acceptor_gain	0.6200
11:5454364:T:G	acceptor_gain	0.6100
11:5450793:C:CA	donor_gain	0.6000
11:5453837:GCCA:G	donor_gain	0.6000
11:5454283:G:T	donor_gain	0.6000
11:5451763:T:C	acceptor_gain	0.5900
11:5454141:A:AG	acceptor_gain	0.5900
11:5454365:AGC:A	acceptor_gain	0.5900
11:5454366:GCG:G	acceptor_gain	0.5900
11:5453545:TCTG:T	donor_gain	0.5800
11:5453980:GA:G	acceptor_gain	0.5800
11:5454109:T:TA	acceptor_gain	0.5800

AlphaMissense

2053 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5453843:A:C	S119R	0.960
11:5453845:T:A	S119R	0.960
11:5453845:T:G	S119R	0.960
11:5453942:A:C	S152R	0.949
11:5453944:C:A	S152R	0.949
11:5453944:C:G	S152R	0.949
11:5454239:T:C	F251L	0.933
11:5454241:T:A	F251L	0.933
11:5454241:T:G	F251L	0.933
11:5453842:G:A	M118I	0.929
11:5453842:G:C	M118I	0.929
11:5453842:G:T	M118I	0.929
11:5453693:A:C	S69R	0.910
11:5453695:T:A	S69R	0.910
11:5453695:T:G	S69R	0.910
11:5453685:T:C	L66S	0.906
11:5453792:T:C	F102L	0.900
11:5453794:T:A	F102L	0.900
11:5453794:T:G	F102L	0.900
11:5453853:G:C	R122P	0.895
11:5453850:A:T	D121V	0.881
11:5454073:C:A	N195K	0.879
11:5454073:C:G	N195K	0.879
11:5454150:T:C	I221T	0.875
11:5453850:A:C	D121A	0.872
11:5454278:T:C	F264L	0.870
11:5454280:T:A	F264L	0.870
11:5454280:T:G	F264L	0.870
11:5454352:C:A	N288K	0.870
11:5454352:C:G	N288K	0.870

dbSNP variants (sampled 300 via entrez): RS1000062382 (11:5450727 T>C), RS1000396087 (11:5450789 A>T), RS1000407414 (11:5450518 G>A,T), RS1001240423 (11:5450164 A>G), RS1001943014 (11:5451016 A>G,T), RS1002059610 (11:5456006 T>C), RS1002141931 (11:5451969 AAAT>A), RS1002299353 (11:5456265 C>A,T), RS1002410456 (11:5456313 G>C), RS1002787861 (11:5447518 T>C), RS1002851102 (11:5452233 G>A,C,T), RS1003367486 (11:5453222 G>A), RS1003802482 (11:5448404 T>A), RS1003809537 (11:5453168 G>A,T), RS1003966135 (11:5447813 T>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

5 associations (top):

Study	Trait	p-value
GCST001862_2	Sickle cell anemia (haemolysis)	3.000000e-10
GCST009184_7	Inferior parietal cortex volume	4.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

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
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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