OR2I1

Summary

OR2I1 (olfactory receptor family 2 subfamily I member 1 (gene/pseudogene), HGNC:8258) is a protein-coding gene on chromosome 6p22.1, encoding Putative olfactory receptor 2I1 (Q8NGU4). 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 442197 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_001396058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8258
Approved symbol	OR2I1
Name	olfactory receptor family 2 subfamily I member 1 (gene/pseudogene)
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	HS6M1-14
Ensembl gene	ENSG00000237988
Ensembl biotype	protein_coding
Entrez	442197

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000641137, ENST00000641730, ENST00000642037

RefSeq mRNA: 1 — MANE Select: NM_001396058 NM_001396058

CCDS: CCDS93877

Canonical transcript exons

ENST00000641137 — 2 exons

Exon	Start	End
ENSE00003820060	29550407	29550857
ENSE00003978349	29553225	29557773

Expression profiles

Bgee: expression breadth broad, 90 present calls, max score 83.54.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vermiform appendix	UBERON:0001154	83.54	gold quality
lymph node	UBERON:0000029	81.16	gold quality
caecum	UBERON:0001153	74.29	gold quality
islet of Langerhans	UBERON:0000006	73.28	gold quality
pancreas	UBERON:0001264	64.06	gold quality
rectum	UBERON:0001052	63.76	gold quality
gall bladder	UBERON:0002110	62.53	gold quality
adult mammalian kidney	UBERON:0000082	60.64	gold quality
tonsil	UBERON:0002372	60.40	gold quality
body of pancreas	UBERON:0001150	60.29	gold quality
spleen	UBERON:0002106	59.61	gold quality
liver	UBERON:0002107	57.79	gold quality
right lobe of liver	UBERON:0001114	57.19	gold quality
metanephros cortex	UBERON:0010533	57.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.68	gold quality
cortex of kidney	UBERON:0001225	55.34	gold quality
kidney	UBERON:0002113	54.31	gold quality
small intestine Peyer’s patch	UBERON:0003454	53.69	gold quality
small intestine	UBERON:0002108	53.36	gold quality
bone marrow cell	CL:0002092	52.66	gold quality
metanephros	UBERON:0000081	52.09	gold quality
colonic epithelium	UBERON:0000397	51.71	gold quality
mucosa of transverse colon	UBERON:0004991	51.69	gold quality
minor salivary gland	UBERON:0001830	50.84	gold quality
saliva-secreting gland	UBERON:0001044	50.26	gold quality
mouth mucosa	UBERON:0003729	49.44	gold quality
smooth muscle tissue	UBERON:0001135	48.38	gold quality
nasal cavity mucosa	UBERON:0001826	47.89	gold quality
duodenum	UBERON:0002114	47.24	gold quality
esophagus mucosa	UBERON:0002469	46.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.07

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2i1	ENSMUSG00000043827
rattus_norvegicus	Or2i1	ENSRNOG00000084481

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), OR2M4 (ENSG00000171180), 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)

Protein

Protein identifiers

Putative olfactory receptor 2I1 — Q8NGU4 (reviewed: Q8NGU4)

Alternative names: Putative olfactory receptor 2I2, Putative olfactory receptor 2I3, Putative olfactory receptor 2I4

All UniProt accessions (1): Q8NGU4

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_001382987* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGU4-F1	89.14	0.64

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): 96–188

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 28 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, MODULE_331, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, MODULE_48, MODULE_95, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (4): 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 (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 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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2I1	CCDC126	Q96EE4	519
OR2I1	FOXD4L6	Q3SYB3	507
OR2I1	ZNF684	Q5T5D7	495
OR2I1	ASB17	Q8WXJ9	482
OR2I1	VSIG10	Q8N0Z9	481
OR2I1	TEX26	Q8N6G2	480
OR2I1	FBXO48	Q5FWF7	471
OR2I1	NUP62CL	Q9H1M0	434
OR2I1	GALNTL5	Q7Z4T8	434
OR2I1	ZNF793	Q6ZN11	419
OR2I1	BHLHA9	Q7RTU4	417
OR2I1	ZNF616	Q08AN1	417
OR2I1	AP5S1	Q9NUS5	410
OR2I1	ZNF18	P17022	406
OR2I1	DPY19L3	Q6ZPD9	399

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NMU1, O88628, P0C7T3, P47888, P47893, Q5JQS5, Q6IF63, Q6W049, Q8NGC4, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGI1, Q8NGI3, Q8NGJ8, Q8NGJ9, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NGN2, Q8NGR3, Q8NGR4, Q8NGR6, Q8NGT2, Q8NGU4, Q8NH06, Q8NH08, Q8NH53, Q8NH54, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH63

Diamond homologs: A4D2G3, A6NCV1, A6NF89, A6NFC9, A6NIJ9, A6NJZ3, A6NL26, O14581, O76000, O76001, O76002, O76099, O76100, O95221, O95371, O95918, P0DN82, P23275, P34984, P35898, P58173, P58182, P59922, P70526, Q13607, Q15615, Q15622, Q5JQS5, Q5TZ20, Q60883, Q60887, Q60889, Q60890, Q60892, Q60894, Q6IEU7, Q6IF82, Q7TR96, Q7Z3T1, Q8N628

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

40 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29556346:TGCAC:T	acceptor_gain	1.0000
6:29556348:CAC:C	acceptor_gain	1.0000
6:29556351:C:A	acceptor_loss	1.0000
6:29556352:T:G	acceptor_loss	1.0000
6:29556347:GCAC:G	acceptor_gain	0.9900
6:29556348:CACC:C	acceptor_gain	0.9900
6:29556351:C:CC	acceptor_gain	0.9900
6:29556358:G:C	acceptor_gain	0.9900
6:29556358:G:GC	acceptor_gain	0.9900
6:29556349:AC:A	acceptor_gain	0.9800
6:29556350:CC:C	acceptor_gain	0.9800
6:29556366:C:CT	acceptor_gain	0.7800
6:29556366:C:T	acceptor_gain	0.7700
6:29556348:CACCT:C	acceptor_gain	0.6000
6:29556347:GCACC:G	acceptor_gain	0.5500
6:29556692:TAC:T	donor_gain	0.5000
6:29556693:ACA:A	donor_gain	0.5000
6:29556694:CAC:C	donor_gain	0.5000
6:29556351:C:T	acceptor_gain	0.4800
6:29556349:ACCTG:A	acceptor_gain	0.4600
6:29556245:C:A	acceptor_gain	0.4500
6:29556351:CT:C	acceptor_gain	0.4300
6:29556350:CCT:C	acceptor_gain	0.4200
6:29556691:TTA:T	donor_gain	0.3600
6:29556694:CA:C	donor_gain	0.3100
6:29556695:A:C	donor_gain	0.3100
6:29556243:C:CA	acceptor_gain	0.3000
6:29556244:A:AA	acceptor_gain	0.3000
6:29556345:A:C	acceptor_gain	0.3000
6:29556667:A:AC	donor_gain	0.2900

AlphaMissense

1967 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000115432 (6:29552827 C>T), RS1000529913 (6:29553146 G>A), RS1000612349 (6:29557520 G>A), RS1000622253 (6:29557873 A>G), RS1000634339 (6:29552521 T>A), RS1001239361 (6:29553787 G>A,C), RS1001298949 (6:29551933 GT>G,GTT), RS1001373755 (6:29551246 C>T), RS1002149720 (6:29557371 T>G), RS1002896307 (6:29550902 C>T), RS1002968257 (6:29550634 C>T), RS1003233286 (6:29549448 T>C), RS1003306927 (6:29549165 G>A), RS1003461075 (6:29555476 G>A,C), RS1003527125 (6:29556962 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

2 associations (top):

Study	Trait	p-value
GCST001885_9	Height	3.000000e-06
GCST90020028_878	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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