OR5H2

Summary

OR5H2 (olfactory receptor family 5 subfamily H member 2, HGNC:14752) is a protein-coding gene on chromosome 3q11.2, encoding Olfactory receptor 5H2 (Q8NGV7). 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 79310 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_001005482

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14752
Approved symbol	OR5H2
Name	olfactory receptor family 5 subfamily H member 2
Location	3q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197938
Ensembl biotype	protein_coding
Entrez	79310

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000355273

RefSeq mRNA: 1 — MANE Select: NM_001005482 NM_001005482

CCDS: CCDS33801

Canonical transcript exons

ENST00000355273 — 1 exons

Exon	Start	End
ENSE00001406787	98282505	98284070

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 46.36.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	46.36	silver quality
sural nerve	UBERON:0015488	37.33	gold 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	35.21	gold quality
muscle tissue	UBERON:0002385	32.41	gold quality
leukocyte	CL:0000738	32.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
monocyte	CL:0000576	31.63	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	28.19	gold quality
duodenum	UBERON:0002114	28.14	gold quality
calcaneal tendon	UBERON:0003701	28.09	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
blood	UBERON:0000178	25.97	gold quality
muscle of leg	UBERON:0001383	25.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
gastrocnemius	UBERON:0001388	24.52	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
kidney	UBERON:0002113	24.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The Olfactory Receptor Gene Product, OR5H2, Modulates Endometrial Cancer Cells Proliferation via Interaction with the IGF1 Signaling Pathway. (PMID:34204736)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5h19	ENSMUSG00000043357
mus_musculus	Or5h18	ENSMUSG00000047960
mus_musculus	Or5h25	ENSMUSG00000060057
mus_musculus	Or5h17	ENSMUSG00000062105
mus_musculus	Or5h22	ENSMUSG00000064006
mus_musculus	Or5h23	ENSMUSG00000094539
mus_musculus	Or5h26	ENSMUSG00000096695
rattus_norvegicus	Or5h18	ENSRNOG00000066195
rattus_norvegicus	Or5h25b	ENSRNOG00000071849
rattus_norvegicus	Or5h25	ENSRNOG00000073369
rattus_norvegicus	Or5h17b	ENSRNOG00000073471
rattus_norvegicus	Or5h25d	ENSRNOG00000073651
rattus_norvegicus	Or5h27b	ENSRNOG00000075854
rattus_norvegicus	Or5h26b	ENSRNOG00000077075
rattus_norvegicus		ENSRNOG00000077444
rattus_norvegicus	Or5h24b	ENSRNOG00000079937
rattus_norvegicus	Or5h17c	ENSRNOG00000084393
rattus_norvegicus	Or5h26	ENSRNOG00000085701
rattus_norvegicus	Or5h17	ENSRNOG00000087735
rattus_norvegicus	Or5h24	ENSRNOG00000090523

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 5H2 — Q8NGV7 (reviewed: Q8NGV7)

Alternative names: Olfactory receptor OR3-10

All UniProt accessions (1): Q8NGV7

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_001005482* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGV7-F1	88.50	0.64

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): 97–179

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_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, RAO_BOUND_BY_SALL4_ISOFORM_A, 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 (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
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

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5H2	CRACR2B	Q8N4Y2	525
OR5H2	TEX13D	A0A0J9YY54	507
OR5H2	CCER1	Q8TC90	447
OR5H2	TEKTL1	Q8IYK2	446
OR5H2	F2Z2I4	F2Z2I4	433
OR5H2	DEFB130A	P0DP74	432
OR5H2	RASEF	Q8IZ41	432
OR5H2	EFCAB8	A8MWE9	431
OR5H2	CRACR2A	Q9BSW2	410
OR5H2	TMEM208	Q9BTX3	377
OR5H2	GFY	I3L273	371
OR5H2	DEFB118	Q96PH6	368
OR5H2	SMR3B	P02814	358
OR5H2	FRMD1	Q8N878	348
OR5H2	CCDC181	Q5TID7	326

IntAct

0 interactions, top by confidence:

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: 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

185 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98282949:GACT:G	donor_gain	0.8400
3:98282912:GA:G	donor_gain	0.8300
3:98283217:ATTT:A	acceptor_gain	0.8300
3:98282935:G:GG	donor_gain	0.8100
3:98282913:A:T	donor_gain	0.8000
3:98283093:G:GT	donor_gain	0.7900
3:98282913:A:G	donor_gain	0.7300
3:98283093:G:T	donor_gain	0.7300
3:98282934:A:AG	donor_gain	0.6900
3:98283002:A:AG	donor_gain	0.6800
3:98283078:T:G	donor_gain	0.6800
3:98282900:G:GT	donor_gain	0.6700
3:98282937:T:A	donor_gain	0.6600
3:98282971:G:GT	donor_gain	0.6400
3:98282972:A:T	donor_gain	0.6400
3:98283053:A:T	donor_gain	0.6200
3:98283574:A:AG	acceptor_gain	0.6200
3:98282993:T:TG	donor_gain	0.6100
3:98283144:T:G	donor_gain	0.6000
3:98283003:T:G	donor_gain	0.5900
3:98283001:G:A	donor_gain	0.5800
3:98283268:C:G	donor_gain	0.5800
3:98282970:G:GA	donor_gain	0.5700
3:98283000:TG:T	donor_gain	0.5700
3:98282966:GA:G	donor_gain	0.5600
3:98283131:G:GG	donor_gain	0.5600
3:98283172:G:GT	donor_gain	0.5600
3:98283220:T:TA	acceptor_gain	0.5600
3:98282997:T:A	donor_gain	0.5500
3:98283024:G:GA	donor_gain	0.5500

AlphaMissense

2082 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98283404:T:C	F173L	0.923
3:98283406:C:A	F173L	0.923
3:98283406:C:G	F173L	0.923
3:98282936:T:C	F17L	0.883
3:98282938:T:A	F17L	0.883
3:98282938:T:G	F17L	0.883
3:98283431:T:C	F182L	0.860
3:98283433:T:A	F182L	0.860
3:98283433:T:G	F182L	0.860
3:98283267:G:C	R127P	0.819
3:98283773:A:C	S296R	0.793
3:98283775:T:A	S296R	0.793
3:98283775:T:G	S296R	0.793
3:98283095:A:C	S70R	0.788
3:98283097:T:A	S70R	0.788
3:98283097:T:G	S70R	0.788
3:98282993:T:C	F36L	0.777
3:98282995:C:A	F36L	0.777
3:98282995:C:G	F36L	0.777
3:98283256:G:A	M123I	0.756
3:98283256:G:C	M123I	0.756
3:98283256:G:T	M123I	0.756
3:98283258:C:A	A124E	0.750
3:98282984:T:C	F33L	0.747
3:98282986:C:A	F33L	0.747
3:98282986:C:G	F33L	0.747
3:98283212:T:C	F109L	0.745
3:98283214:T:A	F109L	0.745
3:98283214:T:G	F109L	0.745
3:98283279:T:A	I131K	0.744

dbSNP variants (sampled 300 via entrez): RS1000550981 (3:98282561 G>T), RS1001771920 (3:98281251 G>A), RS1004178811 (3:98283219 T>C), RS1006038265 (3:98283054 A>G), RS1006950305 (3:98283959 CTAA>C), RS1008882883 (3:98281356 G>A,T), RS1009109738 (3:98282257 T>C), RS1010398689 (3:98280895 A>G), RS1010826937 (3:98281191 G>C), RS1010974078 (3:98282025 A>G), RS1011156815 (3:98284052 A>C), RS1011215756 (3:98284254 G>A,C), RS1011870186 (3:98282296 T>C), RS1012829704 (3:98282626 T>C,G), RS1012883932 (3:98282900 G>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

1 associations (top):

Study	Trait	p-value
GCST000415_3	Drug-induced liver injury (flucloxacillin)	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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