OR1D2

Summary

OR1D2 (olfactory receptor family 1 subfamily D member 2, HGNC:8183) is a protein-coding gene on chromosome 17p13.3, encoding Olfactory receptor 1D2 (P34982). Odorant receptor which may be involved in sperm chemotaxis. It is a selective cancer dependency (DepMap: 35.9% of cell lines).

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 4991 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 34 total
• Cancer dependency (DepMap): dependent in 35.9% of screened cell lines
• MANE Select transcript: NM_002548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8183
Approved symbol	OR1D2
Name	olfactory receptor family 1 subfamily D member 2
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	OR17-4
Ensembl gene	ENSG00000184166
Ensembl biotype	protein_coding
OMIM	164342
Entrez	4991

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641064, ENST00000641833

RefSeq mRNA: 2 — MANE Select: NM_002548 NM_001386088, NM_002548

CCDS: CCDS11019

Canonical transcript exons

ENST00000641833 — 2 exons

Exon	Start	End
ENSE00003811901	3104099	3104422
ENSE00003813180	3088484	3093046

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 76.47.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
diaphragm	UBERON:0001103	76.47	gold quality
pancreatic ductal cell	CL:0002079	72.40	silver quality
hair follicle	UBERON:0002073	68.52	gold quality
tibialis anterior	UBERON:0001385	67.92	silver quality
tongue squamous epithelium	UBERON:0006919	66.80	gold quality
sperm	CL:0000019	63.04	gold quality
male germ cell	CL:0000015	62.15	gold quality
ileal mucosa	UBERON:0000331	59.51	gold quality
decidua	UBERON:0002450	56.55	gold quality
cervix epithelium	UBERON:0004801	55.34	gold quality
left ventricle myocardium	UBERON:0006566	55.11	gold quality
germinal epithelium of ovary	UBERON:0001304	54.61	gold quality
quadriceps femoris	UBERON:0001377	54.32	gold quality
vastus lateralis	UBERON:0001379	53.42	gold quality
epithelial cell of pancreas	CL:0000083	53.34	silver quality
oviduct epithelium	UBERON:0004804	51.93	gold quality
nephron tubule	UBERON:0001231	51.69	gold quality
upper leg skin	UBERON:0004262	51.25	silver quality
Brodmann (1909) area 46	UBERON:0006483	50.60	gold quality
myocardium	UBERON:0002349	49.51	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
kidney epithelium	UBERON:0004819	48.59	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
stromal cell of endometrium	CL:0002255	48.20	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
colonic epithelium	UBERON:0000397	47.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.09
E-GEOD-100618	no	136.51

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 35.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• results indicate that hOR17-4 functions in human sperm chemotaxis and may be a critical component of the fertilization process (PMID:12663925)
• the homo-oligomerization status of the human OR1740 receptor and its involvement in receptor activation upon odorant ligand binding were addressed (PMID:21454689)
• The present preliminary study seems to confirm the important role of OR1D2 both in nose and spermatozoa and may explain the idiopathic infertility of the study group. (PMID:23525651)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1d2	ENSMUSG00000058275
rattus_norvegicus	Olr1520	ENSRNOG00000073093
rattus_norvegicus	Or1d2	ENSRNOG00000087954

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 1D2 — P34982 (reviewed: P34982)

Alternative names: Olfactory receptor 17-4, Olfactory receptor OR17-6, Olfactory receptor-like protein HGMP07E

All UniProt accessions (2): A0A126GVV4, P34982

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in testis. Expressed in spermatozoa (at protein level). Expressed in olfactory epithelium.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (2): NP_001373017, NP_002539* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (27 total): topological domain 8, transmembrane region 7, sequence variant 4, mutagenesis site 4, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P34982-F1	86.41	0.52

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 (2): 5, 195

Mutagenesis-validated functional residues (4):

Position	Phenotype
230	abolishes nuclear translocation of arrb2; when associated with a-232 and a-239.
232	abolishes nuclear translocation of arrb2; when associated with a-230 and a-239.
239	abolishes nuclear translocation of arrb2; when associated with a-230 and a-232.
312	abolishes nuclear translocation of arrb2.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 42 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, GOBP_SINGLE_FERTILIZATION, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_TAXIS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_FERTILIZATION, SHEN_SMARCA2_TARGETS_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

GO Biological Process (6): chemotaxis (GO:0006935), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), single fertilization (GO:0007338), sensory perception of smell (GO:0007608), 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), identical protein binding (GO:0042802)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
response to chemical	1
taxis	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
fertilization	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
protein binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1D2	HLA-F	P30511	668
OR1D2	AMACR	Q9UHK6	549
OR1D2	GNAL	P38405	459
OR1D2	A0A140T9Z0	A0A140T9Z0	445
OR1D2	CNGA2	Q16280	424
OR1D2	ADCY3	O60266	408
OR1D2	VN1R1	Q9GZP7	393
OR1D2	CNGA4	Q8IV77	380
OR1D2	UGT2A1	P0DTE4	378
OR1D2	OR2AG1	Q9H205	371
OR1D2	RTP2	Q5QGT7	353
OR1D2	LYG1	Q8N1E2	325
OR1D2	C17orf50	Q8WW18	313
OR1D2	RTP1	P59025	312
OR1D2	OMP	P47874	307

IntAct

5 interactions, top by confidence:

A	B	Type	Score
OR1D2	OR1D2	psi-mi:“MI:0407”(direct interaction)	0.680
OR1D2	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (1): OR1D2 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

349 predictions. Top by Δscore:

Variant	Effect	Δscore
17:3092909:T:TA	donor_gain	0.7400
17:3092879:C:CT	donor_gain	0.7200
17:3092880:C:CT	donor_gain	0.7000
17:3092966:CTGA:C	donor_gain	0.6800
17:3092169:CA:C	donor_gain	0.6100
17:3092256:TG:T	donor_gain	0.6100
17:3092363:C:CT	acceptor_gain	0.5900
17:3092965:TCTG:T	donor_gain	0.5900
17:3092262:C:T	acceptor_gain	0.5800
17:3092880:CACCG:C	donor_gain	0.5800
17:3092169:CATCA:C	donor_gain	0.5700
17:3092124:CAGG:C	acceptor_gain	0.5600
17:3092128:C:CC	acceptor_gain	0.5500
17:3092229:A:AC	donor_gain	0.5500
17:3092230:C:CC	donor_gain	0.5500
17:3092882:CCG:C	donor_gain	0.5500
17:3092095:C:A	donor_gain	0.5300
17:3092120:T:TA	donor_gain	0.5300
17:3092816:A:AC	donor_gain	0.5300
17:3092889:CAGG:C	donor_gain	0.5300
17:3092343:A:C	acceptor_gain	0.5200
17:3092353:A:AC	donor_gain	0.5200
17:3092454:CATCT:C	donor_gain	0.5200
17:3092631:G:C	donor_gain	0.5200
17:3092885:TG:T	donor_gain	0.5200
17:3092897:TGG:T	donor_gain	0.5200
17:3092709:C:CA	donor_gain	0.5100
17:3092948:T:TA	donor_gain	0.5100
17:3092186:AGT:A	donor_gain	0.5000
17:3092820:CA:C	donor_gain	0.5000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000193024 (17:3104992 A>G), RS1000309205 (17:3105394 T>A), RS1000454884 (17:3096578 C>T), RS1000505148 (17:3093592 T>C), RS1000568609 (17:3096327 T>C), RS1000648330 (17:3102468 C>G,T), RS1000725347 (17:3093169 C>A,T), RS1000827403 (17:3099560 G>A,C), RS1001117476 (17:3099278 G>A), RS1001171574 (17:3090389 G>A), RS1001306768 (17:3099660 T>C), RS1001364576 (17:3088097 T>C), RS1001826639 (17:3098277 C>T), RS1001921028 (17:3105127 A>C), RS1002312546 (17:3101116 C>G,T)

Disease associations

OMIM: gene MIM:164342 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001894_2	Endometriosis	1.000000e-06
GCST009391_1769	Metabolite levels	9.000000e-07
GCST012490_231	Femur bone mineral density x serum urate levels interaction	4.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0010478	fructose-1-phosphate measurement
EFO:0010479	fructose-6-phosphate measurement
EFO:0010484	glucose-1-phosphate measurement
EFO:0010485	glucose-6-phosphate measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
bourgeonal	increases abundance, decreases reaction, affects binding, increases activity	1
undecanal	affects binding, decreases reaction, increases activity	1
Calcium	affects binding, increases abundance, increases activity	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Zinc	decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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