OR2T27

Summary

OR2T27 (olfactory receptor family 2 subfamily T member 27, HGNC:31252) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 2T27 (Q8NH04). 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 403239 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 84 total
• MANE Select transcript: NM_001001824

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31252
Approved symbol	OR2T27
Name	olfactory receptor family 2 subfamily T member 27
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187701
Ensembl biotype	protein_coding
Entrez	403239

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000460972, ENST00000641652

RefSeq mRNA: 2 — MANE Select: NM_001001824 NM_001001824, NM_001386060

CCDS: CCDS31124

Canonical transcript exons

ENST00000460972 — 2 exons

Exon	Start	End
ENSE00001938943	248649838	248650888
ENSE00003812401	248655444	248655528

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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
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
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
tonsil	UBERON:0002372	28.74	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
urinary bladder	UBERON:0001255	28.00	gold quality
primary visual cortex	UBERON:0002436	27.85	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.26	gold quality
monocyte	CL:0000576	27.22	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.37	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
kidney	UBERON:0002113	25.20	gold quality
muscle of leg	UBERON:0001383	24.80	gold quality
pancreas	UBERON:0001264	24.25	gold quality
adult mammalian kidney	UBERON:0000082	24.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 2T27 — Q8NH04 (reviewed: Q8NH04)

Alternative names: Olfactory receptor OR1-67

All UniProt accessions (1): Q8NH04

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_001001824, NP_001372989 (=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH04-F1	88.70	0.70

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: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, 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, REACTOME_SENSORY_PERCEPTION, JONES_OVARY_OOCYTE

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

104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2T27	NUTM2G	Q5VZR2	595
OR2T27	FRG2C	A6NGY1	507
OR2T27	CCNQ	Q8N1B3	447
OR2T27	NCKAP5	O14513	418
OR2T27	ZNF717	Q9BY31	403
OR2T27	ADAM21	Q9UKJ8	400
OR2T27	PLEKHA5	Q9HAU0	366
OR2T27	IGSF3	O75054	360
OR2T27	NUTM2F	A1L443	354
OR2T27	B9ZVM9	B9ZVM9	353
OR2T27	CYP3A43	Q9HB55	349
OR2T27	SLC30A9	Q6PML9	348
OR2T27	HS3ST3B1	Q9Y662	348
OR2T27	TAS2R38	P59533	323
OR2T27	FGD1	P98174	306

IntAct

0 interactions, top by confidence:

BioGRID (1): OR2T27 (Protein-RNA)

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

158 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248650288:CATGG:C	donor_gain	0.8200
1:248650625:A:AC	donor_gain	0.8200
1:248650555:AGCC:A	donor_gain	0.7500
1:248650287:A:AC	donor_gain	0.7400
1:248650288:C:CC	donor_gain	0.7400
1:248650012:GCTGT:G	acceptor_gain	0.6200
1:248650622:CTCA:C	donor_gain	0.6200
1:248650623:TCAT:T	donor_gain	0.6200
1:248650624:CATC:C	donor_gain	0.6200
1:248650013:C:A	acceptor_gain	0.5400
1:248650519:G:C	donor_gain	0.5300
1:248650008:TAAGG:T	acceptor_gain	0.5100
1:248650288:CA:C	donor_gain	0.5100
1:248650627:C:T	donor_gain	0.5100
1:248650555:AG:A	donor_gain	0.5000
1:248650009:AAGGC:A	acceptor_gain	0.4800
1:248650010:AGGCT:A	acceptor_gain	0.4800
1:248650011:GGC:G	acceptor_gain	0.4800
1:248650273:A:AC	donor_gain	0.4800
1:248650555:AGC:A	donor_gain	0.4800
1:248650085:G:GC	acceptor_gain	0.4600
1:248650288:CATG:C	donor_gain	0.4600
1:248650200:TCATC:T	acceptor_loss	0.4500
1:248650201:CATCC:C	acceptor_loss	0.4500
1:248650202:ATCC:A	acceptor_loss	0.4500
1:248650203:TCCTA:T	acceptor_loss	0.4500
1:248650204:CCTAT:C	acceptor_loss	0.4500
1:248650205:C:T	acceptor_loss	0.4500
1:248650206:T:C	acceptor_loss	0.4500
1:248650286:TA:T	donor_loss	0.4500

AlphaMissense

2080 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:248650849:A:C	F12L	0.842
1:248650849:A:T	F12L	0.842
1:248650851:A:G	F12L	0.842
1:248650381:G:C	F168L	0.815
1:248650381:G:T	F168L	0.815
1:248650383:A:G	F168L	0.815
1:248650354:G:C	F177L	0.803
1:248650354:G:T	F177L	0.803
1:248650356:A:G	F177L	0.803
1:248650351:G:C	F178L	0.780
1:248650351:G:T	F178L	0.780
1:248650353:A:G	F178L	0.780
1:248650132:G:C	F251L	0.764
1:248650132:G:T	F251L	0.764
1:248650134:A:G	F251L	0.764
1:248650138:G:C	S249R	0.758
1:248650138:G:T	S249R	0.758
1:248650140:T:G	S249R	0.758
1:248650579:G:C	F102L	0.757
1:248650579:G:T	F102L	0.757
1:248650581:A:G	F102L	0.757
1:248650780:A:C	F35L	0.745
1:248650780:A:T	F35L	0.745
1:248650782:A:G	F35L	0.745
1:248650831:G:C	F18L	0.740
1:248650831:G:T	F18L	0.740
1:248650833:A:G	F18L	0.740
1:248650549:G:C	F112L	0.707
1:248650549:G:T	F112L	0.707
1:248650551:A:G	F112L	0.707

dbSNP variants (sampled 300 via entrez): RS1001416591 (1:248652902 T>C), RS1003831613 (1:248657416 A>G,T), RS1008201970 (1:248655300 T>C), RS1008233047 (1:248653784 T>C), RS1008535294 (1:248651939 A>G), RS1008566379 (1:248650453 A>G), RS1010091872 (1:248652706 T>C), RS1010172302 (1:248656781 T>C), RS1017289144 (1:248651944 G>A,C), RS1017319712 (1:248650458 A>C,G), RS1019640623 (1:248655334 C>CA), RS1019671710 (1:248653827 ATTC>A), RS1021192490 (1:248656794 CAAG>C), RS1021502503 (1:248657409 T>C), RS1023204119 (1:248649620 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
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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