OR2H1

Summary

OR2H1 (olfactory receptor family 2 subfamily H member 1, HGNC:8252) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2H1 (Q9GZK4). 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 26716 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_030883

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8252
Approved symbol	OR2H1
Name	olfactory receptor family 2 subfamily H member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	OR6-2
Ensembl gene	ENSG00000204688
Ensembl biotype	protein_coding
Entrez	26716

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000377132, ENST00000377133, ENST00000377136, ENST00000396792, ENST00000473369, ENST00000484371, ENST00000484554

RefSeq mRNA: 3 — MANE Select: NM_030883 NM_001318014, NM_001318022, NM_030883

CCDS: CCDS4660

Canonical transcript exons

ENST00000377133 — 4 exons

Exon	Start	End
ENSE00001618880	29457155	29457207
ENSE00001622149	29460404	29460454
ENSE00001625287	29458454	29458569
ENSE00001666125	29461495	29464328

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 91.47.

Top tissues by expression

98 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	91.47	gold quality
right testis	UBERON:0004534	81.42	gold quality
left testis	UBERON:0004533	80.82	gold quality
testis	UBERON:0000473	80.49	gold quality
colonic epithelium	UBERON:0000397	41.44	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	33.38	gold quality
right uterine tube	UBERON:0001302	33.15	gold quality
gall bladder	UBERON:0002110	32.26	silver quality
caudate nucleus	UBERON:0001873	32.20	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
urinary bladder	UBERON:0001255	31.96	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
monocyte	CL:0000576	31.22	gold quality
liver	UBERON:0002107	31.22	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
leukocyte	CL:0000738	30.90	gold quality
primary visual cortex	UBERON:0002436	30.35	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
fallopian tube	UBERON:0003889	29.74	silver quality
hypothalamus	UBERON:0001898	29.55	gold quality
tonsil	UBERON:0002372	29.13	gold quality
myometrium	UBERON:0001296	28.47	gold quality
blood	UBERON:0000178	28.17	gold quality
duodenum	UBERON:0002114	28.14	gold quality
right lobe of liver	UBERON:0001114	27.95	gold quality
placenta	UBERON:0001987	27.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting OR2H1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-6764-5P	99.75	67.89	2304

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or2h2	ENSMUSG00000056600
mus_musculus	Or2h2b	ENSMUSG00000090556
mus_musculus	Or2h1b	ENSMUSG00000091601
mus_musculus	Or2h1	ENSMUSG00000095377
mus_musculus	Or2h2c	ENSMUSG00000096477
rattus_norvegicus	Or2h2	ENSRNOG00000076954
rattus_norvegicus	Or2h1	ENSRNOG00000081014
rattus_norvegicus	Or2h1b	ENSRNOG00000084391
rattus_norvegicus	Or2h2c	ENSRNOG00000085017

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), 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)

Protein

Protein identifiers

Olfactory receptor 2H1 — Q9GZK4 (reviewed: Q9GZK4)

Alternative names: Hs6M1-16, OLFR42A-9004.14/9026.2, Olfactory receptor 2H6, Olfactory receptor 2H8, Olfactory receptor 6-2, Olfactory receptor OR6-32

All UniProt accessions (2): A0A024RCM6, Q9GZK4

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 (3): NP_001304943, NP_001304951, NP_112145* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence conflict 3, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZK4-F1	85.96	0.54

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): 95–187

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 68 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, FREDERICK_PRKCI_TARGETS, 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, PTEN_DN.V2_DN, NOTCH_DN.V1_DN, MIR616_5P

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

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 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
sensory perception of chemical stimulus	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

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2H1	ZNF391	Q9UJN7	574
OR2H1	SAPCD1	Q5SSQ6	547
OR2H1	GNAL	P38405	527
OR2H1	GARIN2	Q8N9W8	488
OR2H1	WDR38	Q5JTN6	428
OR2H1	NWD1	Q149M9	389
OR2H1	SNAPC4	Q5SXM2	377
OR2H1	EMC4	Q5J8M3	347
OR2H1	TMEM132C	Q8N3T6	319
OR2H1	DDX49	Q9Y6V7	317
OR2H1	MAS1L	P35410	312
OR2H1	NELFE	P18615	299
OR2H1	ZFP57	Q9NU63	298
OR2H1	VN1R1	Q9GZP7	292
OR2H1	F2RL3	Q96RI0	281

IntAct

2 interactions, top by confidence:

A	B	Type	Score
TINF2	OR2H1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2): OR2H1 (Cross-Linking-MS (XL-MS)), OR2H1 (Two-hybrid)

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

Diamond homologs: A4D2G3, A6NCV1, A6NF89, A6NFC9, A6NIJ9, A6NJZ3, A6NL26, O14581, O76000, O76001, O76002, O76099, O76100, O95221, O95371, O95918, P0DN82, P23275, P34984, P35898, P58173, P58182, P59922, P70526, Q13607, Q15615, Q15622, Q5JQS5, Q5TZ20, Q60883, Q60887, Q60889, Q60890, Q60892, Q60894, Q6IEU7, Q6IF82, Q7TR96, Q7Z3T1, Q8N628

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

357 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29458570:G:GG	donor_gain	0.9200
6:29457214:G:T	donor_gain	0.9000
6:29458450:TTAGT:T	acceptor_loss	0.8900
6:29458452:A:G	acceptor_loss	0.8900
6:29457207:GGTA:G	donor_loss	0.8700
6:29457208:GT:G	donor_loss	0.8700
6:29457209:T:G	donor_loss	0.8700
6:29458450:TTAG:T	acceptor_gain	0.8600
6:29458451:TAG:T	acceptor_gain	0.8600
6:29458452:A:T	acceptor_gain	0.8600
6:29458453:G:T	acceptor_gain	0.8600
6:29458566:GCAA:G	donor_gain	0.8600
6:29458449:TTTA:T	acceptor_gain	0.8500
6:29458448:CTTTA:C	acceptor_gain	0.8400
6:29460458:A:AG	donor_gain	0.8100
6:29457214:G:GT	donor_gain	0.7800
6:29461989:A:G	acceptor_gain	0.7500
6:29458452:A:AG	acceptor_gain	0.7400
6:29458453:G:GG	acceptor_gain	0.7400
6:29458452:AGTTT:A	acceptor_gain	0.7300
6:29458453:GTTTG:G	acceptor_gain	0.7300
6:29461616:A:G	donor_gain	0.7300
6:29461969:T:A	acceptor_gain	0.7300
6:29457208:G:GG	donor_gain	0.7200
6:29458567:C:T	donor_gain	0.7200
6:29458463:AG:A	acceptor_loss	0.7000
6:29461984:CCACA:C	acceptor_gain	0.6900
6:29458440:A:G	acceptor_loss	0.6800
6:29458456:T:TA	acceptor_loss	0.6800
6:29458463:A:AG	acceptor_gain	0.6800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000056611 (6:29460900 G>A,T), RS1000325130 (6:29455252 T>C), RS1001199599 (6:29461289 G>A,C), RS1002229713 (6:29455801 A>C,G), RS1002371386 (6:29463864 A>C), RS1002433577 (6:29463302 A>T), RS1002534573 (6:29456764 A>C), RS1003327822 (6:29458916 G>A), RS1003848916 (6:29457150 G>A), RS1004042898 (6:29464827 G>A), RS1004076933 (6:29456342 C>T), RS1005882726 (6:29460979 T>C), RS1006192809 (6:29458502 T>A,C), RS1006326624 (6:29461252 G>A), RS1006844980 (6:29462812 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

22 associations (top):

Study	Trait	p-value
GCST001538_22	Immune reponse to smallpox (secreted IFN-alpha)	2.000000e-08
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_62	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST008747_152	Estimated glomerular filtration rate	1.000000e-09
GCST008747_21	Estimated glomerular filtration rate	1.000000e-07
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

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
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Catechin	affects cotreatment, increases expression	1
Copper	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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