OR2D2

Summary

OR2D2 (olfactory receptor family 2 subfamily D member 2, HGNC:8244) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 2D2 (Q9H210). 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 120776 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_003700

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8244
Approved symbol	OR2D2
Name	olfactory receptor family 2 subfamily D member 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	OR11-610, hg27
Ensembl gene	ENSG00000166368
Ensembl biotype	protein_coding
OMIM	608494
Entrez	120776

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000299459

RefSeq mRNA: 1 — MANE Select: NM_003700 NM_003700

CCDS: CCDS31416

Canonical transcript exons

ENST00000299459 — 1 exons

Exon	Start	End
ENSE00004472049	6891574	6892500

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 49.87.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	49.87	gold quality
mucosa of transverse colon	UBERON:0004991	42.37	silver quality
colonic epithelium	UBERON:0000397	41.42	gold quality
cortical plate	UBERON:0005343	40.65	silver quality
right uterine tube	UBERON:0001302	38.92	silver quality
bone marrow	UBERON:0002371	38.75	gold quality
granulocyte	CL:0000094	37.07	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
tonsil	UBERON:0002372	35.67	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
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	31.04	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
primary visual cortex	UBERON:0002436	30.84	gold quality
superior frontal gyrus	UBERON:0002661	30.73	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.40	gold quality
lymph node	UBERON:0000029	29.15	gold quality
uterine cervix	UBERON:0000002	28.61	gold quality
leukocyte	CL:0000738	28.57	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	28.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.61	gold quality
myometrium	UBERON:0001296	27.12	gold quality
frontal cortex	UBERON:0001870	27.10	gold quality
calcaneal tendon	UBERON:0003701	26.85	gold quality
endometrium	UBERON:0001295	26.67	gold quality
blood	UBERON:0000178	26.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.78

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2d2	ENSMUSG00000060503
mus_musculus	Or2d2b	ENSMUSG00000062987
rattus_norvegicus	Or2d2b	ENSRNOG00000077558
rattus_norvegicus	Or2d2	ENSRNOG00000080946

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), 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 2D2 — Q9H210 (reviewed: Q9H210)

Alternative names: HB2, Olfactory receptor 11-610, Olfactory receptor 2D1, Olfactory receptor OR11-88

All UniProt accessions (2): Q9H210, A0A126GVN9

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_003691* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (24 total): topological domain 8, transmembrane region 7, sequence variant 6, chain 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H210-F1	87.31	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.

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: 18 (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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

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
sensory perception of chemical stimulus	1
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
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

206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2D2	TAS2R13	Q9NYV9	506
OR2D2	TAS2R5	Q9NYW4	474
OR2D2	TAS2R50	P59544	474
OR2D2	LACTB	P83096	448
OR2D2	VN1R4	Q7Z5H5	447
OR2D2	TAS2R10	Q9NYW0	419
OR2D2	ZNF215	Q9UL58	419
OR2D2	VN1R2	Q8NFZ6	419
OR2D2	TAS2R14	Q9NYV8	419
OR2D2	TAS2R4	Q9NYW5	373
OR2D2	VN1R1	Q9GZP7	359
OR2D2	KRT31	Q15323	348
OR2D2	ZNF214	Q9UL59	337
OR2D2	OAZ2	O95190	335
OR2D2	CYB5RL	Q6IPT4	324

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: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6891856:C:CT	acceptor_gain	0.8500
11:6891631:CAGG:C	acceptor_gain	0.7900
11:6891635:C:CC	acceptor_gain	0.7700
11:6891666:C:CC	acceptor_gain	0.7600
11:6892307:T:TC	acceptor_gain	0.7000
11:6891664:CA:C	acceptor_gain	0.6900
11:6891857:A:T	acceptor_gain	0.6900
11:6891630:TCAGG:T	acceptor_gain	0.6400
11:6891631:CAGGC:C	acceptor_gain	0.6400
11:6891641:A:C	acceptor_gain	0.6400
11:6891665:A:AC	acceptor_gain	0.6400
11:6892180:A:T	acceptor_gain	0.6400
11:6891637:A:C	acceptor_gain	0.6300
11:6892378:T:TA	donor_gain	0.6200
11:6891863:A:T	acceptor_gain	0.6100
11:6891633:GGC:G	acceptor_loss	0.6000
11:6891634:GC:G	acceptor_loss	0.6000
11:6891635:C:CA	acceptor_loss	0.6000
11:6891636:T:C	acceptor_loss	0.6000
11:6891803:C:A	donor_gain	0.5900
11:6891962:TC:T	acceptor_gain	0.5900
11:6892179:C:CT	acceptor_gain	0.5900
11:6891669:T:TC	acceptor_gain	0.5800
11:6891862:C:CT	acceptor_gain	0.5800
11:6891633:GG:G	acceptor_gain	0.5700
11:6891834:C:CC	acceptor_gain	0.5600
11:6891632:AGG:A	acceptor_gain	0.5400
11:6891802:C:CA	donor_gain	0.5400
11:6891641:A:AC	acceptor_gain	0.5300
11:6891847:A:C	acceptor_gain	0.5300

AlphaMissense

1989 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6892465:G:C	F12L	0.913
11:6892465:G:T	F12L	0.913
11:6892467:A:G	F12L	0.913
11:6891748:A:C	F251L	0.857
11:6891748:A:T	F251L	0.857
11:6891750:A:G	F251L	0.857
11:6892048:A:C	S151R	0.806
11:6892048:A:T	S151R	0.806
11:6892050:T:G	S151R	0.806
11:6891970:G:C	F177L	0.785
11:6891970:G:T	F177L	0.785
11:6891972:A:G	F177L	0.785
11:6891634:G:C	S289R	0.777
11:6891634:G:T	S289R	0.777
11:6891636:T:G	S289R	0.777
11:6892056:A:G	W149R	0.765
11:6892056:A:T	W149R	0.765
11:6892219:G:C	F94L	0.765
11:6892219:G:T	F94L	0.765
11:6892221:A:G	F94L	0.765
11:6892136:C:G	R122P	0.760
11:6891967:A:C	F178L	0.737
11:6891967:A:T	F178L	0.737
11:6891969:A:G	F178L	0.737
11:6892466:A:G	F12S	0.736
11:6891787:A:C	F238L	0.732
11:6891787:A:T	F238L	0.732
11:6891789:A:G	F238L	0.732
11:6891793:C:A	K236N	0.731
11:6891793:C:G	K236N	0.731

dbSNP variants (sampled 300 via entrez): RS1000798176 (11:6894396 C>A,T), RS1001595515 (11:6893847 T>C), RS1004203642 (11:6892631 T>A,C), RS1004256617 (11:6892216 T>C), RS1005038888 (11:6893013 A>AG), RS1006641478 (11:6891647 G>T), RS1007820506 (11:6891279 C>T), RS1008231752 (11:6894340 C>T), RS1011811820 (11:6891318 T>C), RS1012854945 (11:6891990 T>G), RS1013901286 (11:6893071 C>A,T), RS1014154994 (11:6893771 C>T), RS1014627886 (11:6893043 C>T), RS1017405005 (11:6891302 T>C), RS1018818596 (11:6892403 C>G,T)

Disease associations

OMIM: gene MIM:608494 | 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
GCST004691_20	Huntington’s disease progression	2.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement

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
2-palmitoylglycerol	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation	1
Hydrogen Peroxide	decreases expression	1

Clinical trials (associated diseases)

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