OR4D5

Summary

OR4D5 (olfactory receptor family 4 subfamily D member 5, HGNC:14852) is a protein-coding gene on chromosome 11q24.1, encoding Olfactory receptor 4D5 (Q8NGN0). 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 219875 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001001965

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14852
Approved symbol	OR4D5
Name	olfactory receptor family 4 subfamily D member 5
Location	11q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171014
Ensembl biotype	protein_coding
Entrez	219875

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307033

RefSeq mRNA: 1 — MANE Select: NM_001001965 NM_001001965

CCDS: CCDS31699

Canonical transcript exons

ENST00000307033 — 1 exons

Exon	Start	End
ENSE00001133958	123939617	123940573

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 41.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	41.70	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
pancreas	UBERON:0001264	37.05	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
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
urinary bladder	UBERON:0001255	29.36	gold quality
liver	UBERON:0002107	29.32	gold quality
rectum	UBERON:0001052	29.14	silver quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.50	gold quality
monocyte	CL:0000576	27.49	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.95	gold quality
blood	UBERON:0000178	26.43	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
kidney	UBERON:0002113	25.21	gold quality
uterine cervix	UBERON:0000002	25.18	gold quality
muscle of leg	UBERON:0001383	24.99	gold quality
calcaneal tendon	UBERON:0003701	24.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4d5	ENSMUSG00000045812
rattus_norvegicus	Or4d5	ENSRNOG00000059611

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), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 4D5 — Q8NGN0 (reviewed: Q8NGN0)

Alternative names: Olfactory receptor OR11-276

All UniProt accessions (2): Q8NGN0, A0A126GVD9

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_001001965* (*=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-Q8NGN0-F1	86.97	0.54

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: 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, chr11q24, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, 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

130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4D5	TANGO2	Q6ICL3	393
OR4D5	MGARP	Q8TDB4	377
OR4D5	MAP3K15	Q6ZN16	358
OR4D5	ASB4	Q9Y574	351
OR4D5	MAGEA9B	P43362	348
OR4D5	CNTNAP4	Q9C0A0	332
OR4D5	SCUBE1	Q8IWY4	325
OR4D5	LOXHD1	Q8IVV2	324
OR4D5	GRAMD1B	Q3KR37	322
OR4D5	FETUB	Q9UGM5	305
OR4D5	GABRG1	Q8N1C3	288
OR4D5	NPNT	Q6UXI9	277
OR4D5	RPL18	Q07020	268
OR4D5	ANKRD18A	Q8IVF6	246
OR4D5	IRGQ	Q8WZA9	242

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

166 predictions. Top by Δscore:

Variant	Effect	Δscore
11:123939939:G:C	acceptor_gain	0.8200
11:123939643:G:GA	donor_gain	0.7900
11:123939935:ATT:A	acceptor_gain	0.7700
11:123939937:T:A	acceptor_gain	0.7400
11:123939642:T:TA	donor_gain	0.7300
11:123940384:C:G	acceptor_gain	0.7300
11:123939936:TTGG:T	acceptor_gain	0.7200
11:123939930:A:AG	acceptor_gain	0.7000
11:123939937:TGG:T	acceptor_gain	0.6900
11:123939931:C:G	acceptor_gain	0.6200
11:123939822:T:A	acceptor_gain	0.6100
11:123939809:A:AG	acceptor_gain	0.6000
11:123940380:T:G	acceptor_gain	0.5700
11:123940260:T:TA	acceptor_gain	0.5500
11:123939935:A:AG	acceptor_gain	0.5400
11:123939804:T:TA	acceptor_gain	0.5200
11:123939805:G:A	acceptor_gain	0.5200
11:123940261:G:A	acceptor_gain	0.5200
11:123939935:ATTGG:A	acceptor_gain	0.5000
11:123940394:A:G	acceptor_gain	0.4800
11:123940251:T:TA	acceptor_gain	0.4700
11:123940390:T:G	acceptor_gain	0.4600
11:123940393:A:AG	acceptor_gain	0.4600
11:123939675:TTTGG:T	donor_gain	0.4500
11:123940354:G:GA	donor_gain	0.4500
11:123940359:C:G	donor_gain	0.4500
11:123939690:T:A	donor_gain	0.4400
11:123940358:A:AG	donor_gain	0.4300
11:123940307:G:T	donor_gain	0.4200
11:123940393:AAG:A	acceptor_gain	0.4200

AlphaMissense

2071 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:123940145:T:C	F177L	0.930
11:123940147:T:A	F177L	0.930
11:123940147:T:G	F177L	0.930
11:123939650:T:C	F12L	0.922
11:123939652:T:A	F12L	0.922
11:123939652:T:G	F12L	0.922
11:123940118:T:C	F168L	0.912
11:123940120:C:A	F168L	0.912
11:123940120:C:G	F168L	0.912
11:123940367:T:C	F251L	0.898
11:123940369:T:A	F251L	0.898
11:123940369:T:G	F251L	0.898
11:123940400:T:C	F262L	0.869
11:123940402:T:A	F262L	0.869
11:123940402:T:G	F262L	0.869
11:123939981:G:C	R122P	0.859
11:123939970:G:A	M118I	0.852
11:123939970:G:C	M118I	0.852
11:123939970:G:T	M118I	0.852
11:123940321:G:C	K235N	0.843
11:123940321:G:T	K235N	0.843
11:123939742:C:A	N42K	0.834
11:123939742:C:G	N42K	0.834
11:123939920:T:C	F102L	0.822
11:123939922:C:A	F102L	0.822
11:123939922:C:G	F102L	0.822
11:123940151:T:A	C179S	0.821
11:123940152:G:C	C179S	0.821
11:123940247:T:C	F211L	0.820
11:123940249:T:A	F211L	0.820

dbSNP variants (sampled 300 via entrez): RS1000391541 (11:123939109 G>A,C), RS1000463539 (11:123938833 C>G), RS1002643640 (11:123940670 C>A,T), RS1002981776 (11:123940905 C>T), RS1006086599 (11:123940975 C>A), RS1006276163 (11:123939933 T>G), RS1006972662 (11:123938135 T>A,C), RS1008133982 (11:123938320 T>G), RS1008563522 (11:123938640 G>C,T), RS1011892304 (11:123939353 C>A), RS1012921970 (11:123939153 A>G), RS1013562019 (11:123937848 T>A), RS1015879192 (11:123937872 A>C), RS1016395863 (11:123940986 A>G), RS1016732969 (11:123939660 T>C,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

1 associations (top):

Study	Trait	p-value
GCST004751_11	Serum uric acid levels in response to allopurinol in gout	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	increases abundance, decreases expression	2
CGP 52608	affects binding, increases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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