OR6C1

Summary

OR6C1 (olfactory receptor family 6 subfamily C member 1, HGNC:8355) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C1 (Q96RD1). 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 390321 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001005182

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8355
Approved symbol	OR6C1
Name	olfactory receptor family 6 subfamily C member 1
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	OST267
Ensembl gene	ENSG00000205330
Ensembl biotype	protein_coding
Entrez	390321

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000379668, ENST00000642104

RefSeq mRNA: 1 — MANE Select: NM_001005182 NM_001005182

CCDS: CCDS31818

Canonical transcript exons

ENST00000642104 — 2 exons

Exon	Start	End
ENSE00003813383	55314343	55314599
ENSE00003813453	55320567	55322364

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.40.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	37.40	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
skeletal muscle tissue	UBERON:0001134	35.52	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	32.63	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.23	gold quality
leukocyte	CL:0000738	28.87	gold quality
monocyte	CL:0000576	28.35	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
placenta	UBERON:0001987	27.84	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.86	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.26	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
calcaneal tendon	UBERON:0003701	25.02	gold quality
muscle of leg	UBERON:0001383	24.99	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c1	ENSMUSG00000093866
mus_musculus	Or6c1b	ENSMUSG00000095696
rattus_norvegicus	Or6c1i-ps1	ENSRNOG00000058125
rattus_norvegicus	Or6c1	ENSRNOG00000063839

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C1 — Q96RD1 (reviewed: Q96RD1)

Alternative names: OST267

All UniProt accessions (1): Q96RD1

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_001005182* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-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-Q96RD1-F1	90.34	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): 95–187

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_DN, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), 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), protein binding (GO:0005515)

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
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
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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C1	CYP2S1	Q96SQ9	493
OR6C1	PRSS22	Q9GZN4	438
OR6C1	KCNU1	A8MYU2	418
OR6C1	TAS2R46	P59540	416
OR6C1	GNG8	Q9UK08	391
OR6C1	AK9	Q5TCS8	369
OR6C1	ADCY5	O95622	369
OR6C1	EDN3	P14138	367
OR6C1	CNGA2	Q16280	359
OR6C1	TAS2R4	Q9NYW5	354
OR6C1	ANO2	Q9NQ90	327
OR6C1	OLFM3	Q96PB7	318
OR6C1	MROH9	Q5TGP6	318
OR6C1	SOX5	P35711	315
OR6C1	PLBD1	Q6P4A8	307
OR6C1	GNG13	Q9P2W3	307

IntAct

4 interactions, top by confidence:

A	B	Type	Score
OTX2	OR6C1	psi-mi:“MI:0915”(physical association)	0.560
OR6C1	OTX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): OR6C1 (Two-hybrid)

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

176 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55320856:GAGA:G	donor_gain	0.7400
12:55320821:C:A	donor_gain	0.7000
12:55320913:T:TA	acceptor_gain	0.6500
12:55320769:T:G	donor_gain	0.5900
12:55320649:A:G	donor_gain	0.5700
12:55320700:T:G	acceptor_gain	0.5600
12:55320859:A:G	donor_gain	0.5600
12:55320615:G:GT	donor_gain	0.5400
12:55320661:TTCAG:T	donor_loss	0.5400
12:55320662:TCAGG:T	donor_loss	0.5400
12:55320663:CAG:C	donor_loss	0.5400
12:55320664:AG:A	donor_loss	0.5400
12:55320665:GG:G	donor_loss	0.5300
12:55320666:G:A	donor_loss	0.5300
12:55320667:T:A	donor_loss	0.5300
12:55320818:C:G	donor_gain	0.5300
12:55321326:AT:A	acceptor_gain	0.5300
12:55320666:GTT:G	donor_gain	0.5200
12:55321099:G:GG	donor_gain	0.5200
12:55320586:A:T	donor_gain	0.4900
12:55320990:T:G	donor_gain	0.4900
12:55321465:GCCTA:G	acceptor_gain	0.4900
12:55320844:A:AG	donor_gain	0.4700
12:55320563:G:GG	donor_gain	0.4600
12:55320857:A:T	donor_gain	0.4500
12:55320914:G:A	acceptor_gain	0.4500
12:55320990:T:TG	donor_gain	0.4500
12:55321410:G:GT	donor_gain	0.4500
12:55321142:A:AG	acceptor_gain	0.4400
12:55321249:T:G	acceptor_gain	0.4400

AlphaMissense

2063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55321353:A:C	S252R	0.948
12:55321355:C:A	S252R	0.948
12:55321355:C:G	S252R	0.948
12:55320627:T:C	F10L	0.936
12:55320629:T:A	F10L	0.936
12:55320629:T:G	F10L	0.936
12:55321122:T:C	F175L	0.922
12:55321124:T:A	F175L	0.922
12:55321124:T:G	F175L	0.922
12:55320628:T:C	F10S	0.863
12:55320927:T:C	F110L	0.856
12:55320929:T:A	F110L	0.856
12:55320929:T:G	F110L	0.856
12:55321409:G:C	K270N	0.856
12:55321409:G:T	K270N	0.856
12:55321420:T:A	I274K	0.856
12:55321362:T:C	F255L	0.845
12:55321364:T:A	F255L	0.845
12:55321364:T:G	F255L	0.845
12:55320810:T:C	F71L	0.819
12:55320812:C:A	F71L	0.819
12:55320812:C:G	F71L	0.819
12:55320822:A:C	S75R	0.816
12:55320824:T:A	S75R	0.816
12:55320824:T:G	S75R	0.816
12:55321435:T:A	V279E	0.808
12:55321305:T:C	F236L	0.795
12:55321307:T:A	F236L	0.795
12:55321307:T:G	F236L	0.795
12:55321420:T:G	I274R	0.790

dbSNP variants (sampled 300 via entrez): RS1000340147 (12:55320166 C>T), RS1000674469 (12:55315794 C>T), RS1000767523 (12:55316100 C>T), RS1001104142 (12:55321798 T>A), RS1001107840 (12:55321782 T>A,C), RS1001136711 (12:55322009 CA>C,CAA), RS1001790008 (12:55315412 C>G,T), RS1001887015 (12:55316241 A>T), RS1002425148 (12:55320799 T>C,G), RS1002509377 (12:55312581 A>G), RS1002527595 (12:55322654 A>G), RS1002683948 (12:55318371 G>A,T), RS1002777642 (12:55318666 T>C), RS1003054898 (12:55312811 A>G), RS1004527446 (12:55320497 T>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:190300

GenCC curated gene-disease

Mondo (1): essential tremor (MONDO:0003233)

Orphanet (1): NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002238_5	Contrast sensitivity	5.000000e-06
GCST010002_217	Refractive error	6.000000e-174

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005419	contrast sensitivity measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, increases methylation	2
Benzo(a)pyrene	affects methylation, decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00439699	PHASE4	COMPLETED	A Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376	PHASE4	COMPLETED	Pregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369	PHASE4	COMPLETED	Propranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883	PHASE4	COMPLETED	Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00018564	PHASE3	COMPLETED	Novel Therapies for Essential Tremor
NCT00236496	PHASE3	COMPLETED	A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284	PHASE3	WITHDRAWN	Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527	PHASE3	COMPLETED	A Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209	PHASE3	COMPLETED	[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276	PHASE3	ENROLLING_BY_INVITATION	Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00080366	PHASE2	COMPLETED	Octanol to Treat Essential Tremor
NCT00102596	PHASE2	COMPLETED	Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor
NCT00223743	PHASE2	COMPLETED	A Safety/Efficacy Trial of Zonisamide for Essential Tremor
NCT00321087	PHASE2	TERMINATED	A Study of T2000 in Essential Tremor
NCT00598078	PHASE2	COMPLETED	Multiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor
NCT00655278	PHASE2	TERMINATED	T2000 in Essential Tremor - Open Label Continuation
NCT01332695	PHASE2	COMPLETED	A Pilot Efficacy and Safety Study of ST101 in Essential Tremor
NCT02277106	PHASE2	COMPLETED	Evaluate SAGE-547 in Participants With Essential Tremor
NCT02551848	PHASE2	UNKNOWN	Kinematic-based BoNT-A Injections for Bilateral ET
NCT02668146	PHASE2	UNKNOWN	An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor
NCT02978781	PHASE2	COMPLETED	A Study to Evaluate SAGE-217 in Participants With Essential Tremor
NCT03101241	PHASE2	COMPLETED	A Phase 2 RCT Study of CX-8998 for Essential Tremor
NCT03688685	PHASE2	COMPLETED	A Clinical Study to Evaluate CAD-1883 in Essential Tremor
NCT03780426	PHASE2	COMPLETED	tSMS in Essential Tremor
NCT04305275	PHASE2	COMPLETED	A Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor
NCT04727658	PHASE2	TERMINATED	Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL)
NCT04880616	PHASE2	COMPLETED	Safety, Efficacy, and Tolerability of NBI-827104 for the Treatment of Essential Tremor
NCT05021978	PHASE2	COMPLETED	A Clinical Trial of PRAX-944 in Participants With Essential Tremor
NCT05021991	PHASE2	COMPLETED	A Clinical Trial of 2 Doses of PRAX-944 in Participants With Essential Tremor
NCT05122650	PHASE2	COMPLETED	A Study To Assess the Safety and Efficacy of JZP385 in the Treatment of Adults With Moderate to Severe Essential Tremor (ET)
NCT05173012	PHASE2	COMPLETED	Study to Evaluate SAGE-324 in Participants With Essential Tremor
NCT05387642	PHASE2	WITHDRAWN	A Clinical Trial of PRAX-114 in Participants With Essential Tremor
NCT06312800	PHASE2	WITHDRAWN	Acamprosate and Methazolamide for Essential Tremor
NCT06821906	PHASE2	RECRUITING	Stereotactic Radiosurgery in the Treatment of Essential Tremor
NCT07074002	PHASE2	RECRUITING	Proof of Concept Study on BP1.4979 Effect on Essential Tremor
NCT07103265	PHASE2	NOT_YET_RECRUITING	Developing a New LIFU Neuromodulation Method to Suppress Tremor
NCT00001986	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT00016679	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT01304758	PHASE1	COMPLETED	ExAblate Transcranial MR Guided Focused Ultrasound in the Treatment of Essential Tremor