OR5D13

Summary

OR5D13 (olfactory receptor family 5 subfamily D member 13, HGNC:15280) is a protein-coding gene on chromosome 11q11, encoding Olfactory receptor 5D13 (Q8NGL4). 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 390142 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001001967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15280
Approved symbol	OR5D13
Name	olfactory receptor family 5 subfamily D member 13
Location	11q11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279761
Ensembl biotype	protein_coding
Entrez	390142

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000623930

RefSeq mRNA: 1 — MANE Select: NM_001001967 NM_001001967

Canonical transcript exons

ENST00000623930 — 1 exons

Exon	Start	End
ENSE00003788189	55773438	55774382

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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	29.24	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
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.45	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.30	gold quality
monocyte	CL:0000576	26.18	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	24.94	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.31	gold quality
frontal cortex	UBERON:0001870	24.25	gold quality
superior frontal gyrus	UBERON:0002661	24.08	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

0 orthologs

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 5D13 — Q8NGL4 (reviewed: Q8NGL4)

Alternative names: Olfactory receptor OR11-142, Olfactory receptor OR11-148

All UniProt accessions (1): Q8NGL4

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_001001967* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGL4-F1	88.55	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 7

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_ODORANT_BINDING, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

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
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to 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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5D13	ARL5C	A6NH57	445
OR5D13	ZNF99	A8MXY4	417
OR5D13	TRIM48	Q8IWZ4	399
OR5D13	TRIM51	Q9BSJ1	379
OR5D13	LRRC55	Q6ZSA7	353
OR5D13	LRFN5	Q96NI6	293
OR5D13	SKOR2	Q2VWA4	292
OR5D13	ZNF737	O75373	286
OR5D13	CDH18	Q13634	274
OR5D13	ADAM29	Q9UKF5	273
OR5D13	SEMG1	P04279	265
OR5D13	CC2D1A	Q6P1N0	261
OR5D13	ZRANB2	O95218	251
OR5D13	PSG8	Q9UQ74	248
OR5D13	KEL	P23276	236

IntAct

0 interactions, top by confidence:

BioGRID (2): OR5D13 (Co-fractionation), OR5D13 (Co-fractionation)

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: A0A678XMK4, A5A4L1, A6NL26, E7EM37, O02664, O08725, O08890, O14718, O14804, O70528, O77408, O97512, P30939, P30940, P30955, P35898, P48040, P49286, P97266, Q13639, Q15620, Q24563, Q29003, Q4LBB6, Q5QD04, Q5QD05, Q5QD06, Q5QD07, Q5QD08, Q5QD09, Q5QD10, Q5QD11, Q5QD12, Q5QD13, Q5QD14, Q5QD15, Q5QD16, Q5QD17, Q5QD21, Q5QD23

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

302 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55774110:A:AG	acceptor_gain	0.7700
11:55773559:T:TA	donor_gain	0.7000
11:55773560:A:AA	donor_gain	0.7000
11:55773671:A:AG	acceptor_gain	0.6600
11:55773672:G:GG	acceptor_gain	0.6600
11:55774116:ATTAT:A	acceptor_gain	0.6500
11:55774281:GTGGC:G	acceptor_gain	0.6300
11:55774278:ACAGT:A	acceptor_gain	0.6200
11:55774116:A:AG	acceptor_gain	0.6100
11:55774119:A:AG	acceptor_gain	0.6100
11:55774119:AT:A	acceptor_gain	0.6100
11:55774120:T:G	acceptor_gain	0.6100
11:55774280:A:AG	acceptor_gain	0.6000
11:55774281:G:GG	acceptor_gain	0.6000
11:55774114:C:G	acceptor_gain	0.5800
11:55774281:GT:G	acceptor_gain	0.5800
11:55774117:T:G	acceptor_gain	0.5700
11:55774111:C:G	acceptor_gain	0.5600
11:55774120:T:TA	acceptor_gain	0.5600
11:55774279:C:G	acceptor_gain	0.5600
11:55774280:AGT:A	acceptor_gain	0.5600
11:55774281:GTG:G	acceptor_gain	0.5600
11:55773819:G:GG	donor_gain	0.5300
11:55773818:A:AG	donor_gain	0.5200
11:55774123:AGATG:A	acceptor_loss	0.5200
11:55773511:TCCAG:T	donor_loss	0.5100
11:55773512:CCAG:C	donor_loss	0.5100
11:55773513:CAGGT:C	donor_loss	0.5100
11:55773514:AG:A	donor_loss	0.5100
11:55774113:A:AG	acceptor_gain	0.5100

AlphaMissense

2082 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55773492:T:C	F19L	0.825
11:55773494:T:A	F19L	0.825
11:55773494:T:G	F19L	0.825
11:55773945:T:C	F170L	0.804
11:55773947:T:A	F170L	0.804
11:55773947:T:G	F170L	0.804
11:55774071:A:C	S212R	0.789
11:55774073:C:A	S212R	0.789
11:55774073:C:G	S212R	0.789
11:55773972:T:C	F179L	0.787
11:55773974:T:A	F179L	0.787
11:55773974:T:G	F179L	0.787
11:55773744:T:C	F103L	0.784
11:55773746:T:A	F103L	0.784
11:55773746:T:G	F103L	0.784
11:55773534:T:C	F33L	0.760
11:55773536:C:A	F33L	0.760
11:55773536:C:G	F33L	0.760
11:55773477:T:C	F14L	0.742
11:55773479:T:A	F14L	0.742
11:55773479:T:G	F14L	0.742
11:55774194:T:C	F253L	0.736
11:55774196:C:A	F253L	0.736
11:55774196:C:G	F253L	0.736
11:55774068:A:C	S211R	0.734
11:55774070:C:A	S211R	0.734
11:55774070:C:G	S211R	0.734
11:55773810:T:C	F125L	0.729
11:55773812:T:A	F125L	0.729
11:55773812:T:G	F125L	0.729

dbSNP variants (sampled 300 via entrez): RS1001230746 (11:55773264 A>G), RS1002701155 (11:55774438 T>C), RS1003570857 (11:55774711 G>A), RS1004651846 (11:55772985 C>A,T), RS1008684628 (11:55773340 T>A,C), RS1009221195 (11:55772149 G>A), RS1009367744 (11:55772111 A>T), RS1009914257 (11:55771990 T>G), RS1011771376 (11:55773059 T>G), RS1012801678 (11:55774756 G>A,T), RS1017305093 (11:55772188 C>T), RS1020307366 (11:55773081 T>A,C), RS1020839175 (11:55772011 C>A,G), RS1021061159 (11:55771782 C>G,T), RS1021511317 (11:55774763 G>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

7 associations (top):

Study	Trait	p-value
GCST008070_12	HDL cholesterol levels	6.000000e-06
GCST008075_111	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	1.000000e-16
GCST008075_36	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-17
GCST008084_182	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-17
GCST008084_47	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	8.000000e-19
GCST008085_154	HDL cholesterol levels in current drinkers	7.000000e-10
GCST008085_36	HDL cholesterol levels in current drinkers	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking

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
2-palmitoylglycerol	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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