OR6Q1

Summary

OR6Q1 (olfactory receptor family 6 subfamily Q member 1, HGNC:15302) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 6Q1 (Q8NGQ2). 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 219952 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 44 total
• MANE Select transcript: NM_001005186

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15302
Approved symbol	OR6Q1
Name	olfactory receptor family 6 subfamily Q member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279051
Ensembl biotype	protein_coding
Entrez	219952

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000302622

RefSeq mRNA: 1 — MANE Select: NM_001005186 NM_001005186

CCDS: CCDS31541

Canonical transcript exons

ENST00000302622 — 1 exons

Exon	Start	End
ENSE00004472038	58030953	58031906

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 54.93.

Top tissues by expression

126 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	54.93	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
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
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	28.12	gold quality
liver	UBERON:0002107	28.04	gold quality
monocyte	CL:0000576	27.94	gold quality
leukocyte	CL:0000738	27.91	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.09	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
calcaneal tendon	UBERON:0003701	25.67	gold quality
muscle of leg	UBERON:0001383	25.11	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
uterine cervix	UBERON:0000002	24.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 6Q1 — Q8NGQ2 (reviewed: Q8NGQ2)

Alternative names: Olfactory receptor OR11-226

All UniProt accessions (2): A0A126GVP6, Q8NGQ2

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A single nucleotide deletion at position Leu-229 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The deletion is more frequent in African-Americans than in non-Africans.

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

RefSeq proteins (1): NP_001005186* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	Family

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, glycosylation site 2, sequence variant 2, sequence conflict 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGQ2-F1	86.51	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): 101–193

Glycosylation sites (2): 7, 95

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11q12

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

108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6Q1	PKD2L1	Q9P0L9	363
OR6Q1	TPCN2	Q8NHX9	329
OR6Q1	DTNA	Q9Y4J8	315
OR6Q1	ZNF804A	Q7Z570	312
OR6Q1	SLCO1A2	P46721	296
OR6Q1	NEXN	Q0ZGT2	287
OR6Q1	KLF7	O75840	270
OR6Q1	SLC49A4	Q96SL1	221
OR6Q1	ARHGEF5	Q12774	181
OR6Q1	DSCAML1	Q8TD84	178
OR6Q1	ANO5	Q75V66	175
OR6Q1	NCKAP1L	P55160	172
OR6Q1	AP2A2	O94973	169
OR6Q1	CILP2	Q8IUL8	166
OR6Q1	PLIN1	O60240	157

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

237 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58031783:G:GA	donor_gain	0.8400
11:58031520:GCCTT:G	acceptor_gain	0.7800
11:58031501:T:TA	acceptor_gain	0.7500
11:58031518:TAGC:T	acceptor_gain	0.7500
11:58031782:T:TA	donor_gain	0.7400
11:58031412:CTGG:C	donor_loss	0.7200
11:58031413:TG:T	donor_loss	0.7200
11:58031414:GGTA:G	donor_loss	0.7200
11:58031415:GT:G	donor_loss	0.7200
11:58031416:T:A	donor_loss	0.7200
11:58031520:G:T	acceptor_gain	0.7200
11:58031415:G:GG	donor_gain	0.7100
11:58031519:A:AG	acceptor_gain	0.7000
11:58031520:G:GG	acceptor_gain	0.7000
11:58031418:GGTTT:G	donor_loss	0.6800
11:58031519:A:T	acceptor_gain	0.6700
11:58031411:GCTG:G	donor_gain	0.6500
11:58031520:GCC:G	acceptor_gain	0.6500
11:58031517:CTAG:C	acceptor_gain	0.6300
11:58031520:GC:G	acceptor_gain	0.6300
11:58031289:GCAAC:G	donor_gain	0.6200
11:58031410:GGCTG:G	donor_gain	0.6200
11:58031411:GCTGG:G	donor_gain	0.6200
11:58031417:AGGT:A	donor_loss	0.6100
11:58031515:TGCTA:T	acceptor_gain	0.6100
11:58031516:GCTA:G	acceptor_loss	0.6100
11:58031516:GCTAG:G	acceptor_gain	0.6100
11:58031517:CTAGC:C	acceptor_loss	0.6100
11:58031710:GCC:G	donor_gain	0.6100
11:58031419:G:C	donor_loss	0.6000

AlphaMissense

2060 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58031709:A:C	S253R	0.927
11:58031711:C:A	S253R	0.927
11:58031711:C:G	S253R	0.927
11:58030992:T:C	F14L	0.919
11:58030994:T:A	F14L	0.919
11:58030994:T:G	F14L	0.919
11:58031167:A:T	E72V	0.905
11:58031715:T:C	F255L	0.897
11:58031717:C:A	F255L	0.897
11:58031717:C:G	F255L	0.897
11:58031466:T:C	F172L	0.888
11:58031468:T:A	F172L	0.888
11:58031468:T:G	F172L	0.888
11:58031318:G:A	M122I	0.885
11:58031318:G:C	M122I	0.885
11:58031318:G:T	M122I	0.885
11:58031835:A:C	S295R	0.884
11:58031837:T:A	S295R	0.884
11:58031837:T:G	S295R	0.884
11:58031493:T:C	F181L	0.878
11:58031495:C:A	F181L	0.878
11:58031495:C:G	F181L	0.878
11:58031160:T:C	C70R	0.862
11:58031806:T:A	V285D	0.861
11:58031084:T:A	N44K	0.853
11:58031084:T:G	N44K	0.853
11:58031329:G:C	R126P	0.843
11:58031409:T:A	W153R	0.840
11:58031409:T:C	W153R	0.840
11:58031007:T:C	F19L	0.837

dbSNP variants (sampled 300 via entrez): RS1000938634 (11:58029337 C>T), RS1001473137 (11:58028974 G>A), RS1002871400 (11:58029231 G>A,C), RS1003373507 (11:58029425 C>A,T), RS1003612201 (11:58030661 A>G), RS1004907396 (11:58029100 G>C), RS1005117664 (11:58030186 G>A,C), RS1008338725 (11:58029396 G>A,C), RS1009565879 (11:58032106 G>A,C), RS1010748009 (11:58030565 C>T), RS1011519509 (11:58029845 T>C,G), RS1012011592 (11:58030459 G>A,T), RS1012974458 (11:58029195 G>A), RS1013008603 (11:58031821 A>G), RS1014800718 (11:58030220 T>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

8 associations (top):

Study	Trait	p-value
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09
GCST007095_31	Systolic blood pressure	5.000000e-07
GCST007095_32	Systolic blood pressure	1.000000e-06
GCST007096_134	Pulse pressure	1.000000e-11
GCST007097_63	Pulse pressure	4.000000e-06
GCST007099_137	Systolic blood pressure	2.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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