OR6C76

Summary

OR6C76 (olfactory receptor family 6 subfamily C member 76, HGNC:31305) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C76 (A6NM76). 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 390326 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001005183

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31305
Approved symbol	OR6C76
Name	olfactory receptor family 6 subfamily C member 76
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185821
Ensembl biotype	protein_coding
Entrez	390326

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000328314

RefSeq mRNA: 2 — MANE Select: NM_001005183 NM_001005183, NM_001412214

CCDS: CCDS31823

Canonical transcript exons

ENST00000328314 — 1 exons

Exon	Start	End
ENSE00001311597	55426254	55427192

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 94.16.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.16	gold quality
right uterine tube	UBERON:0001302	44.76	silver 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
liver	UBERON:0002107	28.04	gold quality
placenta	UBERON:0001987	27.94	silver quality
lymph node	UBERON:0000029	27.57	gold quality
urinary bladder	UBERON:0001255	27.09	gold quality
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	26.92	gold quality
monocyte	CL:0000576	26.86	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.27	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
endometrium	UBERON:0001295	25.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
muscle of leg	UBERON:0001383	24.81	gold quality
primary visual cortex	UBERON:0002436	24.61	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

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c76	ENSMUSG00000050251
mus_musculus	Or6c76b	ENSMUSG00000052818
rattus_norvegicus	Or6c76b	ENSRNOG00000066966
rattus_norvegicus	Olr1052	ENSRNOG00000076871
rattus_norvegicus	Olr936	ENSRNOG00000085169

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C75 (ENSG00000187857), 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 6C76 — A6NM76 (reviewed: A6NM76)

All UniProt accessions (2): A0A126GW16, A6NM76

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_001005183, NP_001399143 (=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 (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NM76-F1	90.03	0.72

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): 94–176

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, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr12q13

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

210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C76	STRBP	Q96SI9	394
OR6C76	ADCYAP1R1	P41586	394
OR6C76	FBXO9	Q9UK97	389
OR6C76	PIGK	Q92643	387
OR6C76	TRIM10	Q9UDY6	387
OR6C76	TRIM15	Q9C019	374
OR6C76	A0A140T9Z0	A0A140T9Z0	370
OR6C76	ST6GALNAC5	Q9BVH7	356
OR6C76	COLEC11	Q9BWP8	353
OR6C76	ADI1	Q9BV57	332
OR6C76	CCDC126	Q96EE4	331
OR6C76	WDR49	Q8IV35	325
OR6C76	DPY19L3	Q6ZPD9	303
OR6C76	ASB17	Q8WXJ9	293
OR6C76	SPACA9	Q96E40	291

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

233 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55427000:T:TA	acceptor_gain	0.9200
12:55427000:T:G	acceptor_gain	0.8600
12:55427001:G:A	acceptor_gain	0.8500
12:55426999:AT:A	acceptor_gain	0.8200
12:55426565:T:A	acceptor_gain	0.7700
12:55426316:GCAG:G	donor_loss	0.7600
12:55426317:CAGG:C	donor_loss	0.7600
12:55426319:GG:G	donor_loss	0.7600
12:55426321:T:A	donor_loss	0.7600
12:55426399:T:A	acceptor_gain	0.7600
12:55426317:C:T	donor_gain	0.7000
12:55426349:G:GG	donor_gain	0.6900
12:55426911:A:AG	acceptor_gain	0.6700
12:55426912:G:GG	acceptor_gain	0.6700
12:55426912:GA:G	acceptor_gain	0.6400
12:55426906:T:G	acceptor_gain	0.6200
12:55426439:G:GT	donor_gain	0.6000
12:55426905:A:AG	acceptor_gain	0.6000
12:55426352:T:A	donor_gain	0.5800
12:55426912:GAA:G	acceptor_gain	0.5800
12:55426912:GAACT:G	acceptor_gain	0.5700
12:55426326:A:AG	donor_gain	0.5600
12:55426903:A:AG	acceptor_gain	0.5600
12:55426999:ATG:A	acceptor_gain	0.5500
12:55426348:C:G	donor_loss	0.5400
12:55426824:ACTCT:A	donor_gain	0.5300
12:55426904:C:G	acceptor_gain	0.5300
12:55426908:ATCAG:A	acceptor_loss	0.5300
12:55426909:TCAG:T	acceptor_loss	0.5300
12:55426910:CAGA:C	acceptor_loss	0.5300

AlphaMissense

2036 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55426746:T:C	F165L	0.842
12:55426748:C:A	F165L	0.842
12:55426748:C:G	F165L	0.842
12:55426773:T:C	F174L	0.825
12:55426775:T:A	F174L	0.825
12:55426775:T:G	F174L	0.825
12:55426281:T:C	F10L	0.816
12:55426283:C:A	F10L	0.816
12:55426283:C:G	F10L	0.816
12:55426578:T:C	F109L	0.807
12:55426580:T:A	F109L	0.807
12:55426580:T:G	F109L	0.807
12:55426956:T:C	F235L	0.729
12:55426958:T:A	F235L	0.729
12:55426958:T:G	F235L	0.729
12:55426485:T:C	F78L	0.713
12:55426487:T:A	F78L	0.713
12:55426487:T:G	F78L	0.713
12:55426461:T:C	F70L	0.704
12:55426463:T:A	F70L	0.704
12:55426463:T:G	F70L	0.704
12:55427013:T:C	F254L	0.682
12:55427015:C:A	F254L	0.682
12:55427015:C:G	F254L	0.682
12:55427004:A:C	S251R	0.672
12:55427006:C:A	S251R	0.672
12:55427006:C:G	S251R	0.672
12:55427106:T:C	F285L	0.649
12:55427108:T:A	F285L	0.649
12:55427108:T:G	F285L	0.649

dbSNP variants (sampled 300 via entrez): RS1000813141 (12:55426769 C>A,T), RS1003146178 (12:55426435 T>C), RS1003282408 (12:55426726 C>T), RS1005339417 (12:55426199 G>A,C), RS1005567783 (12:55427670 T>C), RS1007927116 (12:55427324 T>C), RS1008965464 (12:55424614 A>G), RS1009188117 (12:55425817 G>C,T), RS1009517647 (12:55427617 CTG>C), RS1009579867 (12:55426796 G>A), RS1009658940 (12:55426875 T>G), RS1011303166 (12:55425779 T>C), RS1012087620 (12:55424658 C>T), RS1014214654 (12:55425655 G>A,C), RS1014726122 (12:55426190 C>T)

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
bisphenol A	decreases methylation	1
bisphenol S	increases methylation	1

Clinical trials (associated diseases)

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