OR5H6

Summary

OR5H6 (olfactory receptor family 5 subfamily H member 6, HGNC:14767) is a protein-coding gene on chromosome 3q11.2, encoding Olfactory receptor 5H6 (Q8NGV6). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 79295 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_001005479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14767
Approved symbol	OR5H6
Name	olfactory receptor family 5 subfamily H member 6
Location	3q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230301
Ensembl biotype	protein_coding
Entrez	79295

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000615035, ENST00000641416, ENST00000642105

RefSeq mRNA: 1 — MANE Select: NM_001005479 NM_001005479

CCDS: CCDS33800

Canonical transcript exons

ENST00000615035 — 1 exons

Exon	Start	End
ENSE00003715851	98264244	98265356

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 39.65.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	39.65	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.73	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	33.53	gold quality
muscle tissue	UBERON:0002385	33.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
lymph node	UBERON:0000029	30.41	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.63	gold quality
metanephros cortex	UBERON:0010533	28.43	silver quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	28.06	gold quality
placenta	UBERON:0001987	27.97	silver quality
tonsil	UBERON:0002372	27.05	gold quality
calcaneal tendon	UBERON:0003701	27.02	gold quality
muscle of leg	UBERON:0001383	26.95	gold quality
cortex of kidney	UBERON:0001225	26.78	gold quality
leukocyte	CL:0000738	26.56	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
monocyte	CL:0000576	26.45	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
gastrocnemius	UBERON:0001388	25.79	gold quality
kidney	UBERON:0002113	25.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

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 5H6 — Q8NGV6 (reviewed: Q8NGV6)

Alternative names: Olfactory receptor OR3-11

All UniProt accessions (2): Q8NGV6, A0A126GW86

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_001005479* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (26 total): topological domain 8, sequence variant 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-Q8NGV6-F1	85.09	0.60

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): 113–205

Glycosylation sites (1): 21

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, 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, 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 (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

168 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5H6	TMEM229A	B2RXF0	480
OR5H6	PRAMEF1	O95521	432
OR5H6	RTP1	P59025	421
OR5H6	TAS2R42	Q7RTR8	417
OR5H6	TAS2R3	Q9NYW6	401
OR5H6	APOL3	O95236	400
OR5H6	TRIM48	Q8IWZ4	400
OR5H6	TAS2R4	Q9NYW5	373
OR5H6	M1AP	Q8TC57	366
OR5H6	TAS2R60	P59551	332
OR5H6	TAS2R1	Q9NYW7	326
OR5H6	ZNF385D	Q9H6B1	324
OR5H6	SPATA22	Q8NHS9	315
OR5H6	PEAR1	Q5VY43	312
OR5H6	GPR171	O14626	304

IntAct

2 interactions, top by confidence:

A	B	Type	Score
IGHM	APOL1	psi-mi:“MI:0914”(association)	0.350

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: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34985, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q6UXT6, Q7TS48, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

193 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98264592:C:G	donor_gain	0.9900
3:98264596:GA:G	donor_gain	0.9900
3:98264598:G:GG	donor_gain	0.9900
3:98264379:G:GT	donor_gain	0.8900
3:98264363:GA:G	donor_gain	0.8700
3:98264483:A:T	donor_gain	0.8500
3:98264595:AGA:A	donor_gain	0.8500
3:98264596:GAG:G	donor_gain	0.8500
3:98264594:AAGAG:A	donor_loss	0.8100
3:98264599:T:C	donor_loss	0.8100
3:98264600:A:C	donor_loss	0.8100
3:98264364:A:AG	donor_gain	0.7800
3:98264365:G:GG	donor_gain	0.7800
3:98264602:G:C	donor_loss	0.7500
3:98265004:A:AG	acceptor_gain	0.7400
3:98264343:A:T	donor_gain	0.7200
3:98264593:TAAGA:T	donor_gain	0.7200
3:98264937:TCGCA:T	acceptor_loss	0.7100
3:98264938:CGCAG:C	acceptor_loss	0.7100
3:98264939:GCAGG:G	acceptor_loss	0.7100
3:98264940:CAGG:C	acceptor_loss	0.7100
3:98264941:AGGTT:A	acceptor_loss	0.7100
3:98264508:T:G	donor_gain	0.7000
3:98264594:AAGA:A	donor_gain	0.6900
3:98264342:G:GT	donor_gain	0.6500
3:98264399:T:G	donor_gain	0.5700
3:98264424:TCTTG:T	donor_loss	0.5700
3:98264425:CTTGG:C	donor_loss	0.5700
3:98264426:TTG:T	donor_loss	0.5700
3:98264427:TGG:T	donor_loss	0.5700

AlphaMissense

2029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98264834:T:C	F184L	0.889
3:98264836:C:A	F184L	0.889
3:98264836:C:G	F184L	0.889
3:98264366:T:C	F28L	0.846
3:98264368:T:A	F28L	0.846
3:98264368:T:G	F28L	0.846
3:98264861:T:C	F193L	0.840
3:98264863:T:A	F193L	0.840
3:98264863:T:G	F193L	0.840
3:98264423:T:C	F47L	0.792
3:98264425:C:A	F47L	0.792
3:98264425:C:G	F47L	0.792
3:98264414:T:C	F44L	0.730
3:98264416:C:A	F44L	0.730
3:98264416:C:G	F44L	0.730
3:98264525:A:C	S81R	0.719
3:98264527:T:A	S81R	0.719
3:98264527:T:G	S81R	0.719
3:98264669:T:C	F129L	0.687
3:98264671:T:A	F129L	0.687
3:98264671:T:G	F129L	0.687
3:98265203:A:C	S307R	0.685
3:98265205:C:A	S307R	0.685
3:98265205:C:G	S307R	0.685
3:98264867:T:A	C195S	0.676
3:98264868:G:C	C195S	0.676
3:98264686:G:A	M134I	0.657
3:98264686:G:C	M134I	0.657
3:98264686:G:T	M134I	0.657
3:98264458:T:A	N58K	0.656

dbSNP variants (sampled 300 via entrez): RS1000375550 (3:98265429 A>G), RS1000749866 (3:98265717 G>C,T), RS1001788276 (3:98264269 C>G,T), RS1001798685 (3:98265852 A>G), RS1003457557 (3:98263126 GTCACTGTT>G), RS1003532930 (3:98262876 T>C), RS1005195911 (3:98264973 T>A), RS1005605091 (3:98263739 T>C), RS1008102159 (3:98263473 T>G), RS1011049172 (3:98262896 C>T), RS1011397967 (3:98263173 T>C), RS1012210302 (3:98262443 G>A), RS1015049375 (3:98265852 A>AAC), RS1016610949 (3:98263750 A>T), RS1017054383 (3:98263550 T>C)

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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation, decreases expression	3
Aflatoxin B1	decreases expression, decreases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
bisphenol A	increases methylation	1
sodium arsenite	decreases expression	1
didecyldimethylammonium	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Valproic Acid	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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