OR2L2

Summary

OR2L2 (olfactory receptor family 2 subfamily L member 2, HGNC:8266) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2L2 (Q8NH16). 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 26246 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001385855

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8266
Approved symbol	OR2L2
Name	olfactory receptor family 2 subfamily L member 2
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRH07, HSHTPCRH07
Ensembl gene	ENSG00000203663
Ensembl biotype	protein_coding
Entrez	26246

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000366479, ENST00000641771, ENST00000642011

RefSeq mRNA: 2 — MANE Select: NM_001385855 NM_001004686, NM_001385855

CCDS: CCDS31103

Canonical transcript exons

ENST00000641771 — 3 exons

Exon	Start	End
ENSE00003811470	248030070	248030235
ENSE00003811668	248038247	248042305
ENSE00003811936	248035550	248035624

Expression profiles

Bgee: expression breadth broad, 37 present calls, max score 61.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	55.09	gold quality
spinal cord	UBERON:0002240	53.72	gold quality
prefrontal cortex	UBERON:0000451	52.42	gold quality
buccal mucosa cell	CL:0002336	51.23	gold quality
colonic epithelium	UBERON:0000397	50.65	gold quality
ganglionic eminence	UBERON:0004023	50.52	gold quality
stromal cell of endometrium	CL:0002255	49.15	gold quality
upper leg skin	UBERON:0004262	46.41	silver quality
substantia nigra	UBERON:0002038	45.54	gold quality
cortical plate	UBERON:0005343	45.51	gold quality
amniotic fluid	UBERON:0000173	45.04	gold quality
frontal cortex	UBERON:0001870	45.03	gold quality
midbrain	UBERON:0001891	44.83	gold quality
skeletal muscle tissue	UBERON:0001134	43.63	gold quality
bone marrow	UBERON:0002371	43.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
bone marrow cell	CL:0002092	43.33	gold quality
primary visual cortex	UBERON:0002436	43.30	silver quality
neocortex	UBERON:0001950	42.92	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
muscle tissue	UBERON:0002385	42.49	gold quality
occipital lobe	UBERON:0002021	42.40	silver quality
Ammon’s horn	UBERON:0001954	41.82	gold quality
testis	UBERON:0000473	41.68	gold quality
putamen	UBERON:0001874	41.67	gold quality
hypothalamus	UBERON:0001898	41.56	gold quality
monocyte	CL:0000576	41.50	silver quality
cerebral cortex	UBERON:0000956	41.42	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.91
E-CURD-135	no	1003.85
E-CURD-97	no	73.25
E-MTAB-7249	no	42.77

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2l5	ENSMUSG00000045341
rattus_norvegicus	Or2l5	ENSRNOG00000081703

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

Olfactory receptor 2L2 — Q8NH16 (reviewed: Q8NH16)

Alternative names: HTPCRH07, Olfactory receptor 2L12, Olfactory receptor 2L4

All UniProt accessions (2): A0A126GW34, Q8NH16

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 (2): NP_001004686, NP_001372784* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, glycosylation site 2, sequence variant 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH16-F1	90.00	0.74

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

Glycosylation sites (2): 5, 88

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, 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, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_UP, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2L2	VWA3B	Q502W6	447
OR2L2	TMEM248	Q9NWD8	446
OR2L2	FIBCD1	Q8N539	366
OR2L2	PKHD1L1	Q86WI1	348
OR2L2	FLAD1	Q8NFF5	322
OR2L2	LHFPL6	Q9Y693	322
OR2L2	CAMSAP1	Q5T5Y3	316
OR2L2	UNC13C	Q8NB66	298
OR2L2	ELSPBP1	Q96BH3	294
OR2L2	CCDC198	Q9NVL8	290
OR2L2	FRAS1	Q86XX4	270
OR2L2	XIRP2	A4UGR9	269
OR2L2	F2Z2I4	F2Z2I4	260
OR2L2	ANXA10	Q9UJ72	254
OR2L2	ADAMTS18	Q8TE60	248

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	Pathogenic

SpliceAI

549 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248035548:A:G	acceptor_gain	0.9800
1:248035549:G:GG	acceptor_gain	0.9500
1:248038900:T:A	acceptor_gain	0.9300
1:248038898:ACT:A	acceptor_gain	0.9100
1:248037193:A:G	acceptor_gain	0.8600
1:248036665:T:G	acceptor_gain	0.8500
1:248035547:A:AC	acceptor_gain	0.8400
1:248033929:G:GT	donor_gain	0.8300
1:248039150:G:GT	donor_gain	0.8300
1:248035549:GTAAT:G	acceptor_gain	0.8100
1:248035550:T:G	acceptor_gain	0.8000
1:248035549:GTA:G	acceptor_gain	0.7900
1:248036747:T:TA	donor_gain	0.7800
1:248039156:A:AG	donor_gain	0.7800
1:248036605:A:AC	acceptor_gain	0.7100
1:248038715:A:G	donor_gain	0.7100
1:248035537:T:G	acceptor_gain	0.7000
1:248035545:TCAAG:T	acceptor_gain	0.7000
1:248038241:CTTCA:C	acceptor_loss	0.7000
1:248038242:TTCA:T	acceptor_loss	0.7000
1:248038243:TCAGG:T	acceptor_loss	0.7000
1:248038244:CA:C	acceptor_loss	0.7000
1:248038245:A:C	acceptor_loss	0.7000
1:248038234:T:TA	acceptor_loss	0.6900
1:248038811:GCT:G	acceptor_gain	0.6800
1:248035551:A:AG	acceptor_gain	0.6700
1:248038910:T:G	acceptor_gain	0.6700
1:248035546:CAAG:C	acceptor_gain	0.6600
1:248036749:GCT:G	donor_gain	0.6600
1:248036768:T:G	donor_gain	0.6500

AlphaMissense

2048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:248038298:T:C	F11L	0.912
1:248038300:C:A	F11L	0.912
1:248038300:C:G	F11L	0.912
1:248038718:A:C	S151R	0.893
1:248038720:C:A	S151R	0.893
1:248038720:C:G	S151R	0.893
1:248038796:T:C	F177L	0.893
1:248038798:C:A	F177L	0.893
1:248038798:C:G	F177L	0.893
1:248038793:T:C	F176L	0.890
1:248038795:T:A	F176L	0.890
1:248038795:T:G	F176L	0.890
1:248038868:A:C	S201R	0.890
1:248038870:C:A	S201R	0.890
1:248038870:C:G	S201R	0.890
1:248039135:A:C	S290R	0.848
1:248039137:C:A	S290R	0.848
1:248039137:C:G	S290R	0.848
1:248038629:G:C	R121P	0.820
1:248038367:T:C	F34L	0.819
1:248038369:C:A	F34L	0.819
1:248038369:C:G	F34L	0.819
1:248038799:T:A	C178S	0.811
1:248038800:G:C	C178S	0.811
1:248038871:A:C	S202R	0.808
1:248038873:C:A	S202R	0.808
1:248038873:C:G	S202R	0.808
1:248038568:T:C	F101L	0.804
1:248038570:C:A	F101L	0.804
1:248038570:C:G	F101L	0.804

dbSNP variants (sampled 300 via entrez): RS1000114889 (1:248032603 A>G), RS1000117117 (1:248032932 G>T), RS1000273037 (1:248031580 T>C), RS1000606271 (1:248037160 G>A), RS1001048871 (1:248037881 T>C), RS1001126581 (1:248031080 A>G), RS1001143309 (1:248038135 A>G), RS1001280460 (1:248039886 T>C), RS1001515540 (1:248031420 C>A), RS1001639187 (1:248028132 T>G), RS1001773625 (1:248042386 G>A,C), RS1001785697 (1:248034208 C>G), RS1001986554 (1:248028390 C>T), RS1002155324 (1:248042515 TAAATAAAC>T), RS1002351743 (1:248032362 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases expression	1

Clinical trials (associated diseases)

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