OR6C75

Summary

OR6C75 (olfactory receptor family 6 subfamily C member 75, HGNC:31304) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C75 (A6NL08). 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 390323 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_001005497

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31304
Approved symbol	OR6C75
Name	olfactory receptor family 6 subfamily C member 75
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187857
Ensembl biotype	protein_coding
Entrez	390323

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000641576, ENST00000641678, ENST00000641988

RefSeq mRNA: 1 — MANE Select: NM_001005497 NM_001005497

CCDS: CCDS31820

Canonical transcript exons

ENST00000641576 — 3 exons

Exon	Start	End
ENSE00003812485	55363793	55363882
ENSE00003812717	55362975	55363049
ENSE00003813294	55364876	55369279

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 52.48.

Top tissues by expression

124 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	52.48	gold quality
sural nerve	UBERON:0015488	49.29	silver quality
colonic epithelium	UBERON:0000397	40.98	gold quality
bone marrow cell	CL:0002092	40.75	gold quality
ventricular zone	UBERON:0003053	40.40	silver quality
cortical plate	UBERON:0005343	40.07	gold quality
stromal cell of endometrium	CL:0002255	38.96	gold quality
bone marrow	UBERON:0002371	37.49	gold quality
liver	UBERON:0002107	37.26	gold quality
blood	UBERON:0000178	37.15	gold quality
calcaneal tendon	UBERON:0003701	36.51	gold quality
granulocyte	CL:0000094	36.26	gold quality
monocyte	CL:0000576	36.18	gold quality
apex of heart	UBERON:0002098	35.86	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.50	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
lymph node	UBERON:0000029	35.10	silver quality
skeletal muscle tissue	UBERON:0001134	34.75	gold quality
gall bladder	UBERON:0002110	33.88	gold quality
muscle tissue	UBERON:0002385	33.64	gold quality
tonsil	UBERON:0002372	33.54	gold quality
right coronary artery	UBERON:0001625	33.52	gold quality
urinary bladder	UBERON:0001255	33.25	gold quality
corpus callosum	UBERON:0002336	32.61	gold quality
duodenum	UBERON:0002114	32.56	gold quality
endometrium	UBERON:0001295	32.48	gold quality
right lobe of liver	UBERON:0001114	32.33	gold quality
prefrontal cortex	UBERON:0000451	30.64	gold quality
primary visual cortex	UBERON:0002436	30.50	gold quality
descending thoracic aorta	UBERON:0002345	29.87	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.43
E-MTAB-7303	no	39.01

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c75	ENSMUSG00000044025
rattus_norvegicus	Or6c75	ENSRNOG00000065865

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6C75 — A6NL08 (reviewed: A6NL08)

All UniProt accessions (2): A0A126GW92, A6NL08

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_001005497* (*=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 (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-A6NL08-F1	89.81	0.68

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

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, ZNF22_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, 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

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C75	MCTP2	Q6DN12	511
OR6C75	ANO4	Q32M45	435
OR6C75	SNRK	Q9NRH2	409
OR6C75	NUB1	Q9Y5A7	358
OR6C75	DDX51	Q8N8A6	356
OR6C75	SLC5A8	Q8N695	343
OR6C75	TBC1D1	Q86TI0	315
OR6C75	GLYATL3	Q5SZD4	297
OR6C75	ABHD5	Q8WTS1	293
OR6C75	KLF3	P57682	259
OR6C75	SLC25A35	Q3KQZ1	248
OR6C75	ROM1	Q03395	247
OR6C75	ZNF804B	A4D1E1	238
OR6C75	LCN10	Q6JVE6	238
OR6C75	ELAPOR2	A8MWY0	235

IntAct

0 interactions, top by confidence:

BioGRID (1): OR6C75 (Affinity Capture-MS)

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: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

262 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55365174:C:T	donor_gain	0.7600
12:55365174:CAG:C	donor_loss	0.7400
12:55365175:AG:A	donor_loss	0.7400
12:55365256:CAGA:C	acceptor_gain	0.7400
12:55365176:GGT:G	donor_loss	0.7300
12:55365177:G:C	donor_loss	0.7300
12:55365129:G:GG	donor_gain	0.7200
12:55365255:TCAGA:T	acceptor_gain	0.7200
12:55365128:A:AG	donor_gain	0.7100
12:55365171:TGGC:T	donor_gain	0.7100
12:55365126:GCA:G	donor_gain	0.6900
12:55365177:GTT:G	donor_gain	0.6900
12:55365170:GTG:G	donor_gain	0.6500
12:55365256:CAG:C	acceptor_loss	0.6500
12:55365257:A:AT	acceptor_loss	0.6500
12:55365861:A:AG	acceptor_gain	0.6500
12:55365862:G:GG	acceptor_gain	0.6500
12:55365367:G:GT	donor_gain	0.6400
12:55365257:A:AG	acceptor_gain	0.6300
12:55365258:G:GG	acceptor_gain	0.6300
12:55365169:AGT:A	donor_gain	0.6200
12:55365368:A:T	donor_gain	0.6200
12:55365167:ACAGT:A	donor_gain	0.6100
12:55365424:T:A	acceptor_gain	0.6100
12:55365425:G:A	acceptor_gain	0.6100
12:55365759:A:AG	acceptor_gain	0.6100
12:55365325:C:G	donor_gain	0.6000
12:55365249:A:AG	acceptor_loss	0.5800
12:55365254:TTCAG:T	acceptor_gain	0.5700
12:55365258:G:T	acceptor_gain	0.5700

AlphaMissense

2063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55365633:T:C	F175L	0.926
12:55365635:T:A	F175L	0.926
12:55365635:T:G	F175L	0.926
12:55365138:T:C	F10L	0.922
12:55365140:T:A	F10L	0.922
12:55365140:T:G	F10L	0.922
12:55365606:T:C	F166L	0.902
12:55365608:C:A	F166L	0.902
12:55365608:C:G	F166L	0.902
12:55365438:T:C	F110L	0.896
12:55365440:T:A	F110L	0.896
12:55365440:T:G	F110L	0.896
12:55365864:A:C	S252R	0.868
12:55365866:C:A	S252R	0.868
12:55365866:C:G	S252R	0.868
12:55365216:A:C	S36R	0.848
12:55365218:T:A	S36R	0.848
12:55365218:T:G	S36R	0.848
12:55365139:T:C	F10S	0.840
12:55365139:T:G	F10C	0.802
12:55365816:T:C	F236L	0.801
12:55365818:T:A	F236L	0.801
12:55365818:T:G	F236L	0.801
12:55365321:T:C	F71L	0.794
12:55365323:C:A	F71L	0.794
12:55365323:C:G	F71L	0.794
12:55365861:A:C	S251R	0.785
12:55365863:T:A	S251R	0.785
12:55365863:T:G	S251R	0.785
12:55365345:T:C	F79L	0.782

dbSNP variants (sampled 300 via entrez): RS1000288425 (12:55365747 A>C), RS1000741273 (12:55361002 G>A), RS1000901061 (12:55367290 A>C), RS1001521872 (12:55367027 C>T), RS1001915451 (12:55366478 A>C), RS1002544018 (12:55362110 G>A), RS1002698019 (12:55361940 A>G), RS1002731471 (12:55363737 T>C), RS1002776104 (12:55368063 G>C), RS1002950943 (12:55363227 G>C), RS1003322710 (12:55367891 C>A,G), RS1003706479 (12:55363335 A>G), RS1004203205 (12:55365287 C>T), RS1005080688 (12:55367600 A>T), RS1005082560 (12:55361186 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

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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases mutagenesis	1
Cadmium	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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