OR2H2

Summary

OR2H2 (olfactory receptor family 2 subfamily H member 2, HGNC:8253) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 2H2 (O95918). 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 7932 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_007160

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8253
Approved symbol	OR2H2
Name	olfactory receptor family 2 subfamily H member 2
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-12
Ensembl gene	ENSG00000204657
Ensembl biotype	protein_coding
OMIM	600578
Entrez	7932

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000383640, ENST00000641840

RefSeq mRNA: 1 — MANE Select: NM_007160 NM_007160

CCDS: CCDS34365

Canonical transcript exons

ENST00000376947 — 0 exons

Expression profiles

Bgee: expression breadth broad, 74 present calls, max score 71.85.

Top tissues by expression

100 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	71.85	silver quality
putamen	UBERON:0001874	64.41	gold quality
nucleus accumbens	UBERON:0001882	63.68	gold quality
caudate nucleus	UBERON:0001873	63.38	gold quality
right hemisphere of cerebellum	UBERON:0014890	58.78	gold quality
ventricular zone	UBERON:0003053	58.17	gold quality
temporal lobe	UBERON:0001871	57.84	gold quality
amygdala	UBERON:0001876	57.73	gold quality
cerebellum	UBERON:0002037	57.41	gold quality
cerebellar cortex	UBERON:0002129	57.27	gold quality
cerebellar hemisphere	UBERON:0002245	57.18	gold quality
Ammon’s horn	UBERON:0001954	56.89	gold quality
anterior cingulate cortex	UBERON:0009835	55.97	gold quality
right testis	UBERON:0004534	55.52	gold quality
brain	UBERON:0000955	55.49	gold quality
primary visual cortex	UBERON:0002436	55.46	gold quality
sural nerve	UBERON:0015488	55.00	gold quality
right frontal lobe	UBERON:0002810	54.01	gold quality
left testis	UBERON:0004533	53.91	gold quality
testis	UBERON:0000473	53.58	gold quality
hypothalamus	UBERON:0001898	53.32	gold quality
cerebral cortex	UBERON:0000956	53.16	gold quality
superior frontal gyrus	UBERON:0002661	52.97	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	52.56	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.09	gold quality
frontal cortex	UBERON:0001870	51.10	gold quality
substantia nigra	UBERON:0002038	50.13	gold quality
colonic epithelium	UBERON:0000397	49.99	gold quality
adenohypophysis	UBERON:0002196	49.50	gold quality
prefrontal cortex	UBERON:0000451	48.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.08

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 2H2 — O95918 (reviewed: O95918)

Alternative names: Hs6M1-12, Olfactory receptor 2H3, Olfactory receptor-like protein FAT11

All UniProt accessions (2): A0A1U9X844, O95918

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_009091* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (37 total): sequence conflict 13, topological domain 8, transmembrane region 7, sequence variant 6, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95918-F1	89.12	0.65

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: 40 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, BROWNE_HCMV_INFECTION_48HR_DN, KEGG_OLFACTORY_TRANSDUCTION, SCHLOSSER_SERUM_RESPONSE_DN, SANSOM_APC_TARGETS_DN, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, RUAN_RESPONSE_TO_TROGLITAZONE_UP, RUAN_RESPONSE_TO_TNF_UP, RUAN_RESPONSE_TO_TNF_TROGLITAZONE_UP, BURTON_ADIPOGENESIS_6, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY

GO Biological Process (6): defense response (GO:0006952), mating (GO:0007618), 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
response to stress	1
sexual reproduction	1
multi-organism reproductive process	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
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

248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR2H2	HLA-F	P30511	694
OR2H2	IKZF1	Q13422	694
OR2H2	IGLL5	B9A064	647
OR2H2	ZNF311	Q5JNZ3	553
OR2H2	CENPS	Q8N2Z9	545
OR2H2	MOG	Q16653	491
OR2H2	ZFP57	Q9NU63	491
OR2H2	INVS	Q9Y283	490
OR2H2	IL4	P05112	470
OR2H2	MICB	P79525	439
OR2H2	C6orf163	Q5TEZ5	436
OR2H2	IL2	P01585	435
OR2H2	CFAP107	Q8N1D5	419
OR2H2	ATF6B	Q99941	412
OR2H2	MUC22	E2RYF6	389

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR2H2	SERPINB8	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): OR2H2 (Synthetic Lethality), SERPINB8 (Affinity Capture-MS), LRRC8D (Affinity Capture-MS)

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: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

83 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29588183:T:A	acceptor_gain	0.5600
6:29588131:A:AG	acceptor_gain	0.5300
6:29588144:T:A	acceptor_gain	0.5200
6:29587553:A:G	donor_gain	0.4900
6:29588304:C:G	donor_gain	0.4500
6:29588592:C:CA	acceptor_gain	0.4300
6:29588158:A:AG	acceptor_gain	0.4000
6:29588158:ACCAC:A	acceptor_gain	0.3900
6:29588145:G:A	acceptor_gain	0.3800
6:29588304:C:CG	donor_gain	0.3800
6:29588178:A:G	acceptor_gain	0.3700
6:29588258:T:TA	acceptor_gain	0.3600
6:29588267:C:CG	donor_gain	0.3500
6:29588179:ATGCT:A	acceptor_gain	0.3400
6:29588159:C:G	acceptor_gain	0.3300
6:29588259:G:A	acceptor_gain	0.3300
6:29588462:A:G	donor_gain	0.3200
6:29588132:A:G	acceptor_gain	0.3100
6:29588303:GC:G	donor_gain	0.3100
6:29588459:TGG:T	donor_gain	0.3100
6:29588267:C:G	donor_gain	0.3000
6:29588476:G:GC	acceptor_gain	0.3000
6:29588593:G:A	acceptor_gain	0.3000
6:29588177:A:AG	acceptor_gain	0.2900
6:29588180:T:TA	acceptor_gain	0.2900
6:29588455:C:T	donor_gain	0.2800
6:29588460:G:GA	donor_gain	0.2800
6:29588477:AG:A	donor_gain	0.2800
6:29588478:GG:G	donor_gain	0.2800
6:29588636:G:GT	donor_gain	0.2800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000019627 (6:29590189 T>C), RS1001196823 (6:29589874 C>A), RS1001616637 (6:29583297 T>C), RS1001649820 (6:29590074 A>T), RS1001767817 (6:29587385 T>C), RS1001953655 (6:29585195 C>A), RS1002089449 (6:29584836 C>G,T), RS1002173425 (6:29585721 A>C), RS1002225913 (6:29585905 A>G), RS1005623527 (6:29583551 G>C), RS1005695503 (6:29583275 T>A,C), RS1005923507 (6:29589507 CTT>C), RS1006589451 (6:29589843 A>C), RS1006624435 (6:29585221 C>A,T), RS1006697735 (6:29584772 C>A)

Disease associations

OMIM: gene MIM:600578 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

19 associations (top):

Study	Trait	p-value
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_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_80	Autism spectrum disorder or schizophrenia	1.000000e-15
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
GCST90000025_476	Appendicular lean mass	9.000000e-21
GCST90011898_140	Alanine aminotransferase levels	2.000000e-10
GCST90011900_181	Serum alkaline phosphatase levels	1.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004980	appendicular lean mass
EFO:0004533	alkaline phosphatase 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
sulforaphane	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Acetaminophen	decreases expression	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	affects expression	1
Asbestos, Serpentine	increases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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