OR6C70

Summary

OR6C70 (olfactory receptor family 6 subfamily C member 70, HGNC:31299) is a protein-coding gene on chromosome 12q13.2, encoding Olfactory receptor 6C70 (A6NIJ9). 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 390327 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_001005499

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31299
Approved symbol	OR6C70
Name	olfactory receptor family 6 subfamily C member 70
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184954
Ensembl biotype	protein_coding
Entrez	390327

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000327335

RefSeq mRNA: 1 — MANE Select: NM_001005499 NM_001005499

CCDS: CCDS31825

Canonical transcript exons

ENST00000327335 — 1 exons

Exon	Start	End
ENSE00001304042	55469200	55470138

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 38.11.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	38.11	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
leukocyte	CL:0000738	32.73	silver quality
monocyte	CL:0000576	32.57	silver 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
tonsil	UBERON:0002372	29.31	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.37	gold quality
duodenum	UBERON:0002114	28.14	gold quality
heart left ventricle	UBERON:0002084	28.06	silver quality
lymph node	UBERON:0000029	27.57	gold quality
urinary bladder	UBERON:0001255	27.11	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.51	gold quality
heart	UBERON:0000948	26.50	gold 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
muscle of leg	UBERON:0001383	24.87	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	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6c70	ENSMUSG00000059134
mus_musculus	Or6c217	ENSMUSG00000061961
rattus_norvegicus	Or6c70	ENSRNOG00000084276
rattus_norvegicus	Olr1057	ENSRNOG00000084787

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C76 (ENSG00000185821), 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 6C70 — A6NIJ9 (reviewed: A6NIJ9)

All UniProt accessions (1): A6NIJ9

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_001005499* (*=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-A6NIJ9-F1	89.32	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: 19 (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, KATSANOU_ELAVL1_TARGETS_UP, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, PAX3_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

94 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6C70	CIMIP2A	Q6J272	574
OR6C70	AK9	Q5TCS8	436
OR6C70	PLBD1	Q6P4A8	373
OR6C70	TAAR5	O14804	370
OR6C70	MMAB	Q96EY8	370
OR6C70	DEGS2	Q6QHC5	349
OR6C70	FXYD3	Q14802	325
OR6C70	IQGAP3	Q86VI3	323
OR6C70	NUP50	Q9UKX7	315
OR6C70	CDON	Q4KMG0	300
OR6C70	DYNC2H1	Q8NCM8	298
OR6C70	NUP210	Q8TEM1	290
OR6C70	MCTP2	Q6DN12	281
OR6C70	TMEM186	Q96B77	276
OR6C70	SCML4	Q8N228	250

IntAct

2 interactions, top by confidence:

A	B	Type	Score
KLK10	OR6C70	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): OR6C70 (Affinity Capture-MS), OR6C70 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NF89, A6NHG9, A6NIJ9, A6NJZ3, A6NKK0, A6NM76, P0C617, P0DN80, P34983, P37067, P37069, Q60884, Q60886, Q7TR96, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG5, Q8NGI8, Q8NGL4, Q8NGQ3, Q8NGS5, Q8NGV6, Q8NGV7, Q8NH89, Q8NH90, Q8NH92, Q8NH93, Q8NHB8, Q8NHC7, Q8VEW2, Q8VEW6, Q8VEX6, Q8VF12, Q8VF13, Q8VFB9, Q8VFD1

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

273 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55470078:A:C	donor_gain	0.8000
12:55470069:CAAT:C	donor_gain	0.7800
12:55469483:A:C	acceptor_gain	0.7200
12:55469483:A:AC	acceptor_gain	0.6600
12:55469505:C:CC	acceptor_gain	0.6400
12:55469950:A:AC	donor_gain	0.6300
12:55470089:T:C	donor_gain	0.6300
12:55469880:C:A	donor_gain	0.6200
12:55470068:A:AC	donor_gain	0.6100
12:55470069:C:CC	donor_gain	0.6100
12:55469936:T:TA	donor_gain	0.6000
12:55469477:T:C	acceptor_gain	0.5800
12:55469477:T:TC	acceptor_gain	0.5800
12:55470079:C:CC	donor_gain	0.5700
12:55470088:AT:A	donor_gain	0.5700
12:55470072:T:C	donor_gain	0.5600
12:55469502:TTA:T	acceptor_gain	0.5500
12:55469587:T:TC	acceptor_gain	0.5500
12:55470069:CA:C	donor_gain	0.5500
12:55469366:A:C	acceptor_gain	0.5400
12:55469476:C:CC	acceptor_gain	0.5400
12:55469485:G:C	acceptor_gain	0.5400
12:55469969:A:C	donor_gain	0.5400
12:55469268:T:TG	acceptor_gain	0.5300
12:55469860:A:AC	donor_gain	0.5300
12:55469577:AGC:A	acceptor_gain	0.5200
12:55470089:T:TA	donor_gain	0.5200
12:55469485:G:GC	acceptor_gain	0.5100
12:55469575:TGA:T	acceptor_gain	0.5100
12:55469576:GAG:G	acceptor_gain	0.5100

AlphaMissense

2048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55470109:A:C	F10L	0.756
12:55470109:A:T	F10L	0.756
12:55470111:A:G	F10L	0.756
12:55469641:G:C	F166L	0.731
12:55469641:G:T	F166L	0.731
12:55469643:A:G	F166L	0.731
12:55469809:A:C	F110L	0.721
12:55469809:A:T	F110L	0.721
12:55469811:A:G	F110L	0.721
12:55469614:G:C	F175L	0.715
12:55469614:G:T	F175L	0.715
12:55469616:A:G	F175L	0.715
12:55469431:A:C	F236L	0.687
12:55469431:A:T	F236L	0.687
12:55469433:A:G	F236L	0.687
12:55469374:A:C	F255L	0.671
12:55469374:A:T	F255L	0.671
12:55469376:A:G	F255L	0.671
12:55469926:G:C	F71L	0.637
12:55469926:G:T	F71L	0.637
12:55469928:A:G	F71L	0.637
12:55469281:A:C	F286L	0.633
12:55469281:A:T	F286L	0.633
12:55469283:A:G	F286L	0.633
12:55469947:G:C	F64L	0.624
12:55469947:G:T	F64L	0.624
12:55469949:A:G	F64L	0.624
12:55469962:G:C	F59L	0.618
12:55469962:G:T	F59L	0.618
12:55469964:A:G	F59L	0.618

dbSNP variants (sampled 300 via entrez): RS1001447099 (12:55469679 T>C,G), RS1001763705 (12:55472129 A>C), RS1002226401 (12:55471190 G>A), RS1003151227 (12:55471528 G>A), RS1003448161 (12:55472076 T>A), RS1003454321 (12:55471317 G>A,T), RS1005188602 (12:55471080 T>C), RS1005634486 (12:55471301 G>A), RS1005634844 (12:55471234 G>A), RS1005749521 (12:55471519 TAAG>T), RS1006609016 (12:55471887 G>A), RS1007091515 (12:55470523 T>G), RS1007664026 (12:55471615 T>C), RS1007761746 (12:55471616 T>C), RS1008053242 (12:55469386 A>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

4 associations (top):

Study	Trait	p-value
GCST002238_5	Contrast sensitivity	5.000000e-06
GCST010002_217	Refractive error	6.000000e-174
GCST011623_2	Odorant perception	9.000000e-16
GCST011623_3	Odorant perception	1.000000e-09

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)

Clinical trials (associated diseases)

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