OR6C68

Summary

OR6C68 (olfactory receptor family 6 subfamily C member 68, HGNC:31297) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C68 (A6NDL8). 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 seven-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 403284 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 44 total
• MANE Select transcript: NM_001005519

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31297
Approved symbol	OR6C68
Name	olfactory receptor family 6 subfamily C member 68
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205327
Ensembl biotype	protein_coding
Entrez	403284

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000548615

RefSeq mRNA: 1 — MANE Select: NM_001005519 NM_001005519

CCDS: CCDS31826

Canonical transcript exons

ENST00000548615 — 1 exons

Exon	Start	End
ENSE00002413206	55492378	55493316

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 37.20.

Top tissues by expression

123 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	35.47	gold quality
muscle tissue	UBERON:0002385	32.59	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	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	28.11	gold quality
right coronary artery	UBERON:0001625	28.09	gold quality
leukocyte	CL:0000738	28.06	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.87	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
right atrium auricular region	UBERON:0006631	26.54	silver quality
vermiform appendix	UBERON:0001154	26.42	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	25.47	gold quality
adrenal tissue	UBERON:0018303	25.30	gold quality
muscle of leg	UBERON:0001383	25.09	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	0.97

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c68	ENSMUSG00000049573
rattus_norvegicus	Or6c68	ENSRNOG00000032428

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), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C68 — A6NDL8 (reviewed: A6NDL8)

All UniProt accessions (1): A6NDL8

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_001005519* (*=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 (17 total): topological domain 8, transmembrane region 7, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NDL8-F1	86.77	0.54

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): 95–177

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, SRPK1_TARGET_GENES, 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 (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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

74 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C68	CYP27C1	Q4G0S4	572
OR6C68	SLC39A5	Q6ZMH5	442
OR6C68	APOF	Q13790	406
OR6C68	NUP50	Q9UKX7	371
OR6C68	PA2G4	Q9UQ80	364
OR6C68	TIMELESS	Q9UNS1	327
OR6C68	COL5A2	P05997	252
OR6C68	CHIT1	Q13231	246
OR6C68	PON1	P27169	208
OR6C68	CHI3L1	P30923	202
OR6C68	MSTN	O14793	181
OR6C68	MYOG	P15173	175
OR6C68	MAGEL2	Q9UJ55	169
OR6C68	MANSC1	Q9H8J5	166
OR6C68	NUGGC	Q68CJ6	163

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

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	40
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

180 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55493069:A:AG	acceptor_gain	0.7500
12:55493070:A:G	acceptor_gain	0.6600
12:55493014:GTTCT:G	acceptor_gain	0.6200
12:55493068:CAAA:C	acceptor_gain	0.6200
12:55493069:AAAA:A	acceptor_gain	0.6200
12:55493103:T:G	acceptor_gain	0.6100
12:55493008:T:G	acceptor_gain	0.5900
12:55493013:A:AG	acceptor_gain	0.5800
12:55493014:G:GG	acceptor_gain	0.5800
12:55493061:T:TA	acceptor_gain	0.5700
12:55493111:T:TA	acceptor_gain	0.5300
12:55493071:A:AC	acceptor_gain	0.5200
12:55493131:A:AG	acceptor_gain	0.4800
12:55493132:G:GG	acceptor_gain	0.4800
12:55492445:T:G	donor_gain	0.4700
12:55493072:A:AG	acceptor_gain	0.4700
12:55493073:G:GG	acceptor_gain	0.4700
12:55493127:T:TA	acceptor_gain	0.4700
12:55493101:C:G	acceptor_gain	0.4600
12:55493107:ACTGT:A	acceptor_gain	0.4600
12:55493132:GCT:G	acceptor_gain	0.4600
12:55492438:C:G	donor_gain	0.4500
12:55493170:GAG:G	donor_gain	0.4500
12:55493067:A:AG	acceptor_gain	0.4400
12:55493127:T:G	acceptor_gain	0.4400
12:55492577:TAGAA:T	acceptor_gain	0.4300
12:55492578:AGAAA:A	acceptor_gain	0.4300
12:55493109:T:A	acceptor_gain	0.4300
12:55492547:T:G	donor_gain	0.3900
12:55493014:GTT:G	acceptor_gain	0.3800

AlphaMissense

2055 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55492873:T:C	F166L	0.784
12:55492875:C:A	F166L	0.784
12:55492875:C:G	F166L	0.784
12:55492900:T:C	F175L	0.771
12:55492902:T:A	F175L	0.771
12:55492902:T:G	F175L	0.771
12:55492405:T:C	F10L	0.755
12:55492407:C:A	F10L	0.755
12:55492407:C:G	F10L	0.755
12:55492705:T:C	F110L	0.745
12:55492707:T:A	F110L	0.745
12:55492707:T:G	F110L	0.745
12:55493083:T:C	F236L	0.687
12:55493085:T:A	F236L	0.687
12:55493085:T:G	F236L	0.687
12:55492612:T:C	F79L	0.670
12:55492614:C:A	F79L	0.670
12:55492614:C:G	F79L	0.670
12:55493140:T:C	F255L	0.668
12:55493142:C:A	F255L	0.668
12:55493142:C:G	F255L	0.668
12:55492588:T:C	F71L	0.662
12:55492590:T:A	F71L	0.662
12:55492590:T:G	F71L	0.662
12:55493131:A:C	S252R	0.644
12:55493133:C:A	S252R	0.644
12:55493133:C:G	S252R	0.644
12:55492736:G:C	R120P	0.595
12:55493233:T:C	F286L	0.590
12:55493235:C:A	F286L	0.590

dbSNP variants (sampled 300 via entrez): RS1001866629 (12:55491564 G>A,C), RS1002086155 (12:55491295 G>A,T), RS1002472349 (12:55491843 T>A), RS1003735568 (12:55490873 T>C,G), RS1004101451 (12:55491580 G>A,T), RS1004152338 (12:55491820 C>G,T), RS1004197656 (12:55491092 C>A,T), RS1005105538 (12:55492750 T>A,C,G), RS1005355764 (12:55491588 A>G), RS1005772666 (12:55490526 A>G), RS1005823639 (12:55490859 C>T), RS1007875087 (12:55493111 T>A,C), RS1009668925 (12:55491112 G>A,C), RS1009910037 (12:55490913 A>T), RS1009960580 (12:55491096 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

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

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
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

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