OR7D2

Summary

OR7D2 (olfactory receptor family 7 subfamily D member 2, HGNC:8378) is a protein-coding gene on chromosome 19p13.2, encoding Olfactory receptor 7D2 (Q96RA2). 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 162998 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_175883

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8378
Approved symbol	OR7D2
Name	olfactory receptor family 7 subfamily D member 2
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	OR19-4, HTPCRH03, FLJ38149
Ensembl gene	ENSG00000188000
Ensembl biotype	protein_coding
Entrez	162998

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000344248, ENST00000641288, ENST00000642043, ENST00000865598

RefSeq mRNA: 2 — MANE Select: NM_175883 NM_001386112, NM_175883

CCDS: CCDS32900

Canonical transcript exons

ENST00000641288 — 3 exons

Exon	Start	End
ENSE00003811779	9180698	9180788
ENSE00003812201	9178979	9179123
ENSE00003912469	9185769	9188818

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 76.73.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.73	gold quality
skin of hip	UBERON:0001554	65.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.35	gold quality
mucosa of transverse colon	UBERON:0004991	59.31	gold quality
lower esophagus mucosa	UBERON:0035834	58.61	gold quality
ganglionic eminence	UBERON:0004023	56.33	gold quality
cortical plate	UBERON:0005343	55.75	gold quality
lower lobe of lung	UBERON:0008949	54.87	silver quality
oviduct epithelium	UBERON:0004804	54.44	silver quality
buccal mucosa cell	CL:0002336	54.26	gold quality
ventricular zone	UBERON:0003053	54.00	gold quality
stromal cell of endometrium	CL:0002255	48.78	gold quality
testis	UBERON:0000473	48.74	gold quality
right testis	UBERON:0004534	48.24	gold quality
gastrocnemius	UBERON:0001388	46.70	gold quality
left testis	UBERON:0004533	46.59	gold quality
tendon of biceps brachii	UBERON:0008188	46.37	gold quality
urethra	UBERON:0000057	45.85	gold quality
smooth muscle tissue	UBERON:0001135	45.76	gold quality
penis	UBERON:0000989	45.75	silver quality
Brodmann (1909) area 23	UBERON:0013554	45.75	silver quality
muscle of leg	UBERON:0001383	45.53	gold quality
amniotic fluid	UBERON:0000173	45.44	silver quality
synovial joint	UBERON:0002217	45.05	gold quality
tibia	UBERON:0000979	45.01	silver quality
esophagus squamous epithelium	UBERON:0006920	44.80	silver quality
islet of Langerhans	UBERON:0000006	44.51	gold quality
right lung	UBERON:0002167	44.51	gold quality
fallopian tube	UBERON:0003889	43.93	gold quality
upper leg skin	UBERON:0004262	43.91	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.73
E-MTAB-6142	no	3.13

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 7D2 — Q96RA2 (reviewed: Q96RA2)

Alternative names: HTPCRH03, Olfactory receptor 19-4, Olfactory receptor OR19-10

All UniProt accessions (1): Q96RA2

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 (2): NP_001373041, NP_787079* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96RA2-F1	88.57	0.56

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: 29 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr19p13, 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, HMGA1_TARGET_GENES, MIR3133, MIR4511

GO Biological Process (5): regulation of DNA-templated transcription (GO:0006355), 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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), protein binding (GO:0005515)

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
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	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
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

344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR7D2	C9orf43	Q8TAL5	479
OR7D2	ARRDC5	A6NEK1	461
OR7D2	ZNRF1	Q8ND25	410
OR7D2	C17orf58	Q2M2W7	401
OR7D2	HPR	P00739	381
OR7D2	VGLL4	Q14135	380
OR7D2	SH3TC1	Q8TE82	373
OR7D2	MYO5B	Q9ULV0	371
OR7D2	TNFRSF10D	Q9UBN6	365
OR7D2	OCA2	Q04671	359
OR7D2	TNFRSF1B	P20333	353
OR7D2	NCF4	Q15080	353
OR7D2	MS4A1	P08984	353
OR7D2	ORM1	P02763	351
OR7D2	FGF21	Q9NSA1	350

IntAct

9 interactions, top by confidence:

A	B	Type	Score
OR7D2	PELI2	psi-mi:“MI:0915”(physical association)	0.560
OR7D2	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	OR7D2	psi-mi:“MI:0915”(physical association)	0.370
PELI2	OR7D2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): OR7D2 (Two-hybrid)

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: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P58180, Q13606, Q15615, Q60878, Q60881, Q60888, Q60893, Q6IEV9, Q6IEY1, Q6IF82, Q6UXT6, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGA1, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD3, Q8NGD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

44 predictions. Top by Δscore:

Variant	Effect	Δscore
19:9186739:GAC:G	donor_gain	0.9100
19:9186459:G:GT	donor_gain	0.8500
19:9186748:GTTTT:G	donor_gain	0.7900
19:9186667:G:GT	donor_gain	0.7400
19:9186538:G:A	acceptor_gain	0.7100
19:9186537:T:TA	acceptor_gain	0.6500
19:9186758:C:T	donor_gain	0.6500
19:9186686:G:T	donor_gain	0.6000
19:9186082:GTC:G	donor_gain	0.5800
19:9186083:TCT:T	donor_gain	0.5800
19:9186536:ATG:A	acceptor_gain	0.5600
19:9186537:T:G	acceptor_gain	0.5600
19:9186536:ATGGG:A	acceptor_gain	0.5500
19:9186084:C:A	donor_gain	0.5400
19:9186535:TATGG:T	acceptor_gain	0.5200
19:9186745:G:GT	donor_gain	0.5200
19:9186767:C:T	donor_gain	0.5100
19:9188717:ATGTG:A	acceptor_gain	0.5100
19:9186536:AT:A	acceptor_gain	0.5000
19:9186752:T:TG	donor_gain	0.5000
19:9186753:G:GG	donor_gain	0.5000
19:9186676:G:GT	donor_gain	0.4800
19:9186395:T:A	donor_gain	0.4700
19:9186538:GGGA:G	acceptor_gain	0.4400
19:9186537:TGGG:T	acceptor_gain	0.4300
19:9185893:ACG:A	donor_gain	0.4200
19:9186686:G:GT	donor_gain	0.3900
19:9186086:A:G	donor_gain	0.3800
19:9186369:C:T	donor_gain	0.3600
19:9186460:A:T	donor_gain	0.3500

AlphaMissense

2052 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:9186001:A:C	S74R	0.902
19:9186003:C:A	S74R	0.902
19:9186003:C:G	S74R	0.902
19:9185815:T:C	F12L	0.876
19:9185817:T:A	F12L	0.876
19:9185817:T:G	F12L	0.876
19:9186532:T:C	F251L	0.870
19:9186534:T:A	F251L	0.870
19:9186534:T:G	F251L	0.870
19:9186135:G:A	M118I	0.861
19:9186135:G:C	M118I	0.861
19:9186135:G:T	M118I	0.861
19:9186652:A:C	S291R	0.846
19:9186654:C:A	S291R	0.846
19:9186654:C:G	S291R	0.846
19:9186146:G:C	R122P	0.813
19:9185995:T:C	C72R	0.796
19:9186148:T:C	F123L	0.793
19:9186150:T:A	F123L	0.793
19:9186150:T:G	F123L	0.793
19:9185872:T:C	F31L	0.791
19:9185874:C:A	F31L	0.791
19:9185874:C:G	F31L	0.791
19:9186313:T:C	F178L	0.777
19:9186315:C:A	F178L	0.777
19:9186315:C:G	F178L	0.777
19:9186283:T:C	F168L	0.771
19:9186285:C:A	F168L	0.771
19:9186285:C:G	F168L	0.771
19:9185907:C:A	N42K	0.760

dbSNP variants (sampled 300 via entrez): RS1000216714 (19:9179099 C>A,G), RS1000530898 (19:9182398 G>A), RS1000664221 (19:9183079 C>G,T), RS1000670494 (19:9183168 A>C), RS1000762562 (19:9177495 A>G), RS1001034853 (19:9182812 C>A,T), RS1001056235 (19:9188041 A>G), RS1001125083 (19:9188035 G>A,C,T), RS1001461364 (19:9177002 C>T), RS1001827775 (19:9177847 T>C), RS1001929661 (19:9187346 C>A,T), RS1001957551 (19:9187608 G>A), RS1002149704 (19:9183641 A>G), RS1002223456 (19:9183353 C>T), RS1002546169 (19:9182582 A>T)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	decreases expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Tetrachlorodibenzodioxin	increases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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