OR4C16

Summary

OR4C16 (olfactory receptor family 4 subfamily C member 16, HGNC:15172) is a protein-coding gene on chromosome 11q11, encoding Olfactory receptor 4C16 (Q8NGL9). 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 219428 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_001004701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15172
Approved symbol	OR4C16
Name	olfactory receptor family 4 subfamily C member 16
Location	11q11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279514
Ensembl biotype	protein_coding
Entrez	219428

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000623907

RefSeq mRNA: 1 — MANE Select: NM_001004701 NM_001004701

Canonical transcript exons

ENST00000623907 — 1 exons

Exon	Start	End
ENSE00003785977	55572128	55573060

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 41.93.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	41.93	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	35.35	gold quality
muscle tissue	UBERON:0002385	32.51	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.93	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.41	gold quality
monocyte	CL:0000576	27.39	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.92	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.07	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	25.01	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	23.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• OR4C16G>A polymorphism was associated with idiopathic recurrent pregnancy loss in Korean women. (PMID:30203366)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4c29	ENSMUSG00000075113
mus_musculus	Or4c103	ENSMUSG00000075121
mus_musculus	Or4c104	ENSMUSG00000089892
rattus_norvegicus	Or4c29	ENSRNOG00000082202
rattus_norvegicus	Or4c104	ENSRNOG00000089077

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 4C16 — Q8NGL9 (reviewed: Q8NGL9)

Alternative names: Olfactory receptor OR11-135

All UniProt accessions (1): Q8NGL9

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_001004701* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGL9-F1	86.28	0.37

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): 95–187

Glycosylation sites (1): 6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, 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, chr11q11, HBZ_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4C16	TRIM49C	P0CI26	542
OR4C16	TRIM48	Q8IWZ4	418
OR4C16	TAS2R46	P59540	408
OR4C16	TRIM51	Q9BSJ1	397
OR4C16	FRMD1	Q8N878	370
OR4C16	KIF25	Q9UIL4	370
OR4C16	IFT54	Q8TDR0	312
OR4C16	ZNF737	O75373	300
OR4C16	PGM5	Q15124	287
OR4C16	CFAP47	Q6ZTR5	229
OR4C16	POTEM	A6NI47	224
OR4C16	VWA3B	Q502W6	220
OR4C16	CNTN4	Q8IWV2	219
OR4C16	ADAMTS1	Q9UHI8	204
OR4C16	TM4SF20	Q53R12	189

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

246 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55572190:G:GT	donor_gain	0.9900
11:55572501:G:GG	donor_gain	0.9600
11:55572200:GT:G	donor_gain	0.9100
11:55572535:G:GG	donor_gain	0.8800
11:55572281:GCACT:G	donor_gain	0.8600
11:55572534:A:AG	donor_gain	0.8500
11:55572789:A:AG	acceptor_gain	0.8500
11:55572793:TCTG:T	acceptor_gain	0.8500
11:55572500:T:TG	donor_gain	0.8400
11:55572531:GCCA:G	donor_gain	0.8400
11:55572790:T:G	acceptor_gain	0.8400
11:55572984:C:G	acceptor_gain	0.8200
11:55572179:G:GT	donor_gain	0.8000
11:55572239:T:G	donor_gain	0.7800
11:55572487:C:G	donor_gain	0.7200
11:55572190:G:T	donor_gain	0.7100
11:55572975:T:TA	acceptor_gain	0.7100
11:55572983:AC:A	acceptor_gain	0.7100
11:55572204:T:A	donor_gain	0.7000
11:55572795:TG:T	acceptor_gain	0.7000
11:55572243:G:GG	donor_gain	0.6900
11:55572505:G:GT	donor_gain	0.6900
11:55572949:A:AG	acceptor_gain	0.6800
11:55572950:G:GG	acceptor_gain	0.6800
11:55572786:T:A	acceptor_gain	0.6700
11:55572794:CTG:C	acceptor_gain	0.6700
11:55572795:T:TA	acceptor_gain	0.6700
11:55572194:A:T	donor_gain	0.6600
11:55572238:GTTGG:G	donor_gain	0.6600
11:55572534:AGTG:A	donor_gain	0.6600

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55572623:T:C	F166L	0.766
11:55572625:C:A	F166L	0.766
11:55572625:C:G	F166L	0.766
11:55572155:T:C	F10L	0.726
11:55572157:C:A	F10L	0.726
11:55572157:C:G	F10L	0.726
11:55572425:T:C	F100L	0.653
11:55572427:T:A	F100L	0.653
11:55572427:T:G	F100L	0.653
11:55572401:T:C	F92L	0.582
11:55572403:C:A	F92L	0.582
11:55572403:C:G	F92L	0.582
11:55572653:T:C	F176L	0.580
11:55572655:C:A	F176L	0.580
11:55572655:C:G	F176L	0.580
11:55572440:T:C	F105L	0.571
11:55572442:T:A	F105L	0.571
11:55572442:T:G	F105L	0.571

dbSNP variants (sampled 300 via entrez): RS1000463881 (11:55570319 A>G), RS1000583896 (11:55570428 C>T), RS1001190509 (11:55571269 C>CAA), RS1001414960 (11:55570870 G>A), RS1001466878 (11:55571056 G>A), RS1001932426 (11:55573364 GTTC>G), RS1003759511 (11:55571729 A>G,T), RS1003815266 (11:55571848 C>A), RS1004536317 (11:55570838 C>A), RS1004592050 (11:55571019 C>A,T), RS1005210017 (11:55572307 C>T), RS1006995534 (11:55570635 A>G), RS1008615330 (11:55570501 A>G), RS1010810324 (11:55570322 C>A,G,T), RS1011116550 (11:55571985 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

4 associations (top):

Study	Trait	p-value
GCST007094_101	Diastolic blood pressure	4.000000e-06
GCST007095_40	Systolic blood pressure	4.000000e-07
GCST007095_41	Systolic blood pressure	1.000000e-06
GCST007099_2	Systolic blood pressure	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure

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
CGP 52608	affects binding, increases reaction	1
Amiodarone	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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