OR4C5

Summary

OR4C5 (olfactory receptor family 4 subfamily C member 5, HGNC:14702) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4C5 (Q8NGB2). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 79346 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• MANE Select transcript: NM_001348223

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14702
Approved symbol	OR4C5
Name	olfactory receptor family 4 subfamily C member 5
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	OR4C5Q
Ensembl gene	ENSG00000176540
Ensembl biotype	protein_coding
Entrez	79346

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000319813

RefSeq mRNA: 1 — MANE Select: NM_001348223 NM_001348223

CCDS: CCDS86201

Canonical transcript exons

ENST00000319813 — 1 exons

Exon	Start	End
ENSE00001260233	48365485	48366465

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 41.36.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	41.36	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
muscle tissue	UBERON:0002385	32.19	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
monocyte	CL:0000576	30.20	gold quality
leukocyte	CL:0000738	29.96	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
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.13	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
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.77	gold quality
gastrocnemius	UBERON:0001388	23.57	gold quality
kidney	UBERON:0002113	23.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4c35	ENSMUSG00000042894
rattus_norvegicus	Or4c35	ENSRNOG00000006716

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 4C5 — Q8NGB2 (reviewed: Q8NGB2)

Alternative names: Olfactory receptor OR11-99

All UniProt accessions (1): Q8NGB2

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_001335152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	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-Q8NGB2-F1	86.03	0.64

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): 118–210

Glycosylation sites (1): 29

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, chr11p11, GSE32034_UNTREATED_VS_ROSIGLIZATONE_TREATED_LY6C_LOW_MONOCYTE_UP

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

238 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4C5	ZNF717	Q9BY31	570
OR4C5	VCF2	Q5XKR9	444
OR4C5	LRP5L	A4QPB2	418
OR4C5	FRG1	Q14331	401
OR4C5	M0QY95	M0QY95	398
OR4C5	ZNF708	P17019	397
OR4C5	KIAA1671	Q9BY89	397
OR4C5	PCMTD1	Q96MG8	384
OR4C5	FSIP2	Q5CZC0	381
OR4C5	ZNF432	O94892	378
OR4C5	MUC3A	Q02505	370
OR4C5	GOLGA6L2	Q8N9W4	370
OR4C5	ERICH3	Q5RHP9	358
OR4C5	RHPN2	Q8IUC4	349
OR4C5	NDUFAF7	Q7L592	336
OR4C5	ANKRD36	A6QL64	336

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60878, Q60881, Q6IEV9, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGD0, Q8NGD1, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGL6, Q8NGL7, Q8NGL9, Q8NGM1, Q8NGM8, Q8NGN0, Q8NGN8, Q8NGP0, Q8NH05, Q8NH37, Q8NH42

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

120 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48366282:C:CT	donor_gain	0.9000
11:48366283:T:TT	donor_gain	0.9000
11:48366286:CATGG:C	donor_gain	0.7900
11:48366335:G:A	donor_gain	0.7500
11:48365749:G:C	acceptor_gain	0.7200
11:48365847:T:TC	acceptor_gain	0.7000
11:48365851:C:CT	acceptor_gain	0.7000
11:48365847:T:C	acceptor_gain	0.6900
11:48366281:T:C	donor_gain	0.6900
11:48365979:CACAT:C	donor_loss	0.6500
11:48365980:ACATA:A	donor_loss	0.6500
11:48365981:CATAC:C	donor_loss	0.6500
11:48365982:ATACC:A	donor_loss	0.6500
11:48365983:TACCT:T	donor_loss	0.6500
11:48365985:C:A	donor_loss	0.6500
11:48366287:A:T	donor_gain	0.6500
11:48365852:A:T	acceptor_gain	0.6400
11:48365984:ACCTG:A	donor_gain	0.6300
11:48365985:CCTGC:C	donor_gain	0.6300
11:48365596:CACAG:C	acceptor_gain	0.6100
11:48365748:C:CT	acceptor_gain	0.6100
11:48365978:CCACA:C	donor_loss	0.6000
11:48365659:CAA:C	acceptor_gain	0.5600
11:48365742:T:TC	acceptor_gain	0.5500
11:48365988:G:A	donor_gain	0.5500
11:48365832:CAG:C	acceptor_gain	0.5400
11:48365688:C:CT	donor_gain	0.5200
11:48365689:T:TT	donor_gain	0.5200
11:48365984:A:AC	donor_gain	0.5100
11:48365985:C:CC	donor_gain	0.5100

AlphaMissense

2165 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48366367:G:C	F33L	0.810
11:48366367:G:T	F33L	0.810
11:48366369:A:G	F33L	0.810
11:48365899:G:C	F189L	0.785
11:48365899:G:T	F189L	0.785
11:48365901:A:G	F189L	0.785
11:48365872:G:C	F198L	0.737
11:48365872:G:T	F198L	0.737
11:48365874:A:G	F198L	0.737
11:48366121:G:C	F115L	0.647
11:48366121:G:T	F115L	0.647
11:48366123:A:G	F115L	0.647
11:48366097:A:C	F123L	0.593
11:48366097:A:T	F123L	0.593
11:48366099:A:G	F123L	0.593
11:48366310:A:C	F52L	0.568
11:48366310:A:T	F52L	0.568
11:48366312:A:G	F52L	0.568

dbSNP variants (sampled 300 via entrez): RS1000293431 (11:48367952 A>G), RS1004357801 (11:48365175 G>A,T), RS1008136716 (11:48365498 T>C), RS1010569861 (11:48365771 A>C,G), RS1012705793 (11:48367963 GA>G), RS1013066722 (11:48368379 G>A,T), RS1018965728 (11:48366715 T>G), RS1019551136 (11:48365518 G>A), RS1020454785 (11:48366735 G>A,T), RS1021885269 (11:48365566 GTAGAT>G), RS1023975111 (11:48367311 T>G), RS1024380402 (11:48367969 A>G), RS1025993203 (11:48368422 G>A,C), RS1028221747 (11:48365006 C>A,G,T), RS1032701584 (11:48367152 C>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
GCST005580_3	Intraocular pressure	1.000000e-15
GCST010241_180	Apolipoprotein A1 levels	2.000000e-29
GCST010242_339	HDL cholesterol levels	4.000000e-13
GCST010242_521	HDL cholesterol levels	2.000000e-57

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol 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.