OR13C4

Summary

OR13C4 (olfactory receptor family 13 subfamily C member 4, HGNC:14722) is a protein-coding gene on chromosome 9q31.1, encoding Olfactory receptor 13C4 (Q8NGS5). 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 138804 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001001919

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14722
Approved symbol	OR13C4
Name	olfactory receptor family 13 subfamily C member 4
Location	9q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000148136
Ensembl biotype	protein_coding
Entrez	138804

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000277216

RefSeq mRNA: 1 — MANE Select: NM_001001919 NM_001001919

CCDS: CCDS35088

Canonical transcript exons

ENST00000277216 — 1 exons

Exon	Start	End
ENSE00000983309	104526253	104527209

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 41.08.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	41.08	gold quality
bone marrow cell	CL:0002092	38.64	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
adrenal tissue	UBERON:0018303	36.11	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
liver	UBERON:0002107	33.74	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.01	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right uterine tube	UBERON:0001302	31.21	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	29.22	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.84	gold quality
primary visual cortex	UBERON:0002436	27.82	gold quality
right lobe of liver	UBERON:0001114	27.68	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	27.40	gold quality
monocyte	CL:0000576	27.09	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.83	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.19	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	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

Cross-species orthologs

0 orthologs

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 13C4 — Q8NGS5 (reviewed: Q8NGS5)

Alternative names: Olfactory receptor OR9-7

All UniProt accessions (2): Q8NGS5, A0A126GVC9

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_001001919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

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-Q8NGS5-F1	83.89	0.48

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): 97–189

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 20 (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, GSE26928_EFF_MEMORY_VS_CXCR5_POS_CD4_TCELL_DN, GSE2706_R848_VS_R848_AND_LPS_8H_STIM_DC_DN, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (3): nucleoplasm (GO:0005654), 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
cellular anatomical structure	2
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
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
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
nuclear lumen	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR13C4	FOXD4L4	Q8WXT5	524
OR13C4	FOXD4L3	Q6VB84	478
OR13C4	POM121L12	Q8N7R1	447
OR13C4	RLN1	P04808	445
OR13C4	RHBDD1	Q8TEB9	350
OR13C4	S100Z	Q8WXG8	349
OR13C4	KIAA1958	Q8N8K9	344
OR13C4	ZRANB2	O95218	320
OR13C4	HIGD1A	Q9Y241	311
OR13C4	RLN2	P04090	305
OR13C4	STATH	P02808	289
OR13C4	ADPGK	Q9BRR6	288
OR13C4	CIZ1	Q9ULV3	246
OR13C4	HNF4G	Q14541	240
OR13C4	PCP4	P48539	224

IntAct

0 interactions, top by confidence:

BioGRID (1): OR13C4 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A4D2G3, A6NCV1, A6NF89, A6NFC9, A6NIJ9, A6NJZ3, A6NL26, O14581, O76000, O76001, O76002, O76099, O76100, O95221, O95371, O95918, P0DN82, P23275, P34984, P35898, P58173, P58182, P59922, P70526, Q13607, Q15615, Q15622, Q5JQS5, Q5TZ20, Q60883, Q60887, Q60889, Q60890, Q60892, Q60894, Q6IEU7, Q6IF82, Q7TR96, Q7Z3T1, Q8N628

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

186 predictions. Top by Δscore:

Variant	Effect	Δscore
9:104526554:A:C	acceptor_gain	0.8500
9:104526556:A:C	acceptor_gain	0.7500
9:104526588:C:CC	acceptor_gain	0.7000
9:104526860:A:C	acceptor_gain	0.7000
9:104526539:G:GC	acceptor_gain	0.6900
9:104526541:G:GC	acceptor_gain	0.6600
9:104526554:A:AC	acceptor_gain	0.6400
9:104526553:CA:C	acceptor_gain	0.6200
9:104526539:G:C	acceptor_gain	0.6100
9:104526541:G:C	acceptor_gain	0.6100
9:104526864:C:CT	acceptor_gain	0.6000
9:104526856:CATCA:C	acceptor_gain	0.5900
9:104526556:A:AC	acceptor_gain	0.5600
9:104526609:CTG:C	acceptor_gain	0.5500
9:104526957:AGCTC:A	donor_loss	0.5500
9:104526958:GCTCA:G	donor_loss	0.5500
9:104526959:CTCA:C	donor_loss	0.5500
9:104526960:T:TA	donor_loss	0.5500
9:104526961:C:CG	donor_loss	0.5500
9:104526963:C:CT	donor_loss	0.5500
9:104526530:C:CT	acceptor_gain	0.5400
9:104526859:CA:C	acceptor_gain	0.5400
9:104526865:A:T	acceptor_gain	0.5400
9:104526956:AAGCT:A	donor_loss	0.5400
9:104526536:A:C	acceptor_gain	0.5300
9:104527180:T:TA	donor_gain	0.5300
9:104526533:A:T	acceptor_gain	0.5200
9:104527141:A:AC	donor_gain	0.5200
9:104527142:A:C	donor_gain	0.5200
9:104526955:TAAGC:T	donor_loss	0.5100

AlphaMissense

2078 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:104527174:G:C	F12L	0.959
9:104527174:G:T	F12L	0.959
9:104527176:A:G	F12L	0.959
9:104526706:G:C	F168L	0.897
9:104526706:G:T	F168L	0.897
9:104526708:A:G	F168L	0.897
9:104526457:A:C	F251L	0.888
9:104526457:A:T	F251L	0.888
9:104526459:A:G	F251L	0.888
9:104526319:G:C	S297R	0.873
9:104526319:G:T	S297R	0.873
9:104526321:T:G	S297R	0.873
9:104527175:A:G	F12S	0.860
9:104526845:C:G	R122P	0.856
9:104526671:T:A	E180V	0.849
9:104526496:A:C	F238L	0.847
9:104526496:A:T	F238L	0.847
9:104526498:A:G	F238L	0.847
9:104526679:G:C	F177L	0.846
9:104526679:G:T	F177L	0.846
9:104526681:A:G	F177L	0.846
9:104526856:C:A	M118I	0.845
9:104526856:C:G	M118I	0.845
9:104526856:C:T	M118I	0.845
9:104527175:A:C	F12C	0.835
9:104526674:C:G	C179S	0.828
9:104526675:A:T	C179S	0.828
9:104526765:A:G	W149R	0.823
9:104526765:A:T	W149R	0.823
9:104526313:T:A	R299S	0.819

dbSNP variants (sampled 300 via entrez): RS1001107391 (9:104526088 C>A), RS1001910067 (9:104527103 A>G), RS1004147950 (9:104527084 A>G), RS1005559401 (9:104528719 A>T), RS1007473319 (9:104528434 C>A), RS1008172315 (9:104528843 C>T), RS1008618443 (9:104528387 T>C), RS1008632845 (9:104527996 TCAAA>T), RS1009531864 (9:104526461 A>G,T), RS1010668348 (9:104527601 C>A), RS1010949470 (9:104527908 C>A,T), RS1011591585 (9:104528386 A>G), RS1013152250 (9:104527868 G>C), RS1015143816 (9:104528783 C>T), RS1015358478 (9:104528495 T>C)

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

1 associations (top):

Study	Trait	p-value
GCST90014243_9	Kawasaki disease	9.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

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