OR11H2

Summary

OR11H2 (olfactory receptor family 11 subfamily H member 2, HGNC:14716) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 11H2 (Q8NH07). 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 79334 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_001197287

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14716
Approved symbol	OR11H2
Name	olfactory receptor family 11 subfamily H member 2
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000258453
Ensembl biotype	protein_coding
Entrez	79334

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000556246

RefSeq mRNA: 1 — MANE Select: NM_001197287 NM_001197287

CCDS: CCDS76655

Canonical transcript exons

ENST00000556246 — 1 exons

Exon	Start	End
ENSE00002468043	19712936	19713883

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 77.28.

Top tissues by expression

112 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	77.28	gold quality
sural nerve	UBERON:0015488	41.71	gold quality
stromal cell of endometrium	CL:0002255	40.15	gold quality
bone marrow cell	CL:0002092	38.82	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.26	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.10	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
monocyte	CL:0000576	30.61	gold quality
leukocyte	CL:0000738	30.34	gold quality
urinary bladder	UBERON:0001255	29.68	silver quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
tonsil	UBERON:0002372	28.99	gold quality
liver	UBERON:0002107	28.55	gold quality
endometrium	UBERON:0001295	28.53	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	26.86	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
pancreas	UBERON:0001264	25.84	silver quality
placenta	UBERON:0001987	25.81	gold quality
calcaneal tendon	UBERON:0003701	25.34	gold quality
muscle of leg	UBERON:0001383	25.28	gold quality
right adrenal gland cortex	UBERON:0035827	25.00	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	12.18
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), GPR50 (ENSG00000102195), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), OR11H1 (ENSG00000130538), MTNR1B (ENSG00000134640), MCHR2 (ENSG00000152034), NPY1R (ENSG00000164128), NPY5R (ENSG00000164129), MTNR1A (ENSG00000168412), PROKR1 (ENSG00000169618), TACR3 (ENSG00000169836), OR9G1 (ENSG00000174914), OR11H4 (ENSG00000176198), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR11A1 (ENSG00000204694), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR9A4 (ENSG00000258083), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)

Protein

Protein identifiers

Olfactory receptor 11H2 — Q8NH07 (reviewed: Q8NH07)

Alternative names: Olfactory receptor OR14-1

All UniProt accessions (1): A0A2C9F2Y1

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_001184216* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, glycosylation site 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH07-F1	86.05	0.53

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): 112–194

Glycosylation sites (3): 13, 18, 106

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, MANNO_MIDBRAIN_NEUROTYPES_HRGL2A, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr14q11

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 (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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR11H2	POTEM	A6NI47	477
OR11H2	OR4N2	Q8NGD1	414
OR11H2	ZNF232	Q9UNY5	352
OR11H2	ZNF737	O75373	321
OR11H2	OR4M1	Q8NGD0	307
OR11H2	OR4K2	Q8NGD2	304
OR11H2	CFAP47	Q6ZTR5	252
OR11H2	VWA3B	Q502W6	244
OR11H2	TRIM48	Q8IWZ4	224
OR11H2	APBA1	Q02410	222
OR11H2	ZNF804B	A4D1E1	213
OR11H2	TRIM51	Q9BSJ1	213
OR11H2	TM4SF20	Q53R12	203
OR11H2	APCDD1L	Q8NCL9	203
OR11H2	NRXN3	Q9Y4C0	201

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6ND48, B2RN74, O60412, O76099, O76100, O95047, P23271, P23272, P34982, P37069, P37072, P47884, P47890, P58170, Q15622, Q60879, Q8NG84, Q8NG94, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA2, Q8NGE0, Q8NGG1, Q8NGL0, Q8NGP2, Q8NGS2, Q8NGW1, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07, Q8NH80, Q8NHA4, Q8NHC7, Q8VEY3, Q8VFC9, Q8WZA6

Diamond homologs: A6NDH6, A6NKK0, A6NL08, B2RN74, O43749, O76002, O95006, O95007, O95221, O95222, P0C626, P0C628, P0C7N5, P0C7N8, P0DN80, P0DN82, P23266, P23267, P23270, P23274, P34984, P34986, P58173, P58181, P58182, Q13606, Q13607, Q5TZ20, Q60889, Q60890, Q60893, Q60894, Q6IFH4, Q7TR96, Q8N0Y5, Q8N127, Q8NG75, Q8NG94, Q8NGC1, Q8NGC5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

235 predictions. Top by Δscore:

Variant	Effect	Δscore
14:19713815:A:AC	donor_gain	0.7100
14:19713816:C:CC	donor_gain	0.7100
14:19713584:T:TA	donor_gain	0.6900
14:19713650:GACAT:G	donor_loss	0.6700
14:19713651:ACAT:A	donor_loss	0.6700
14:19713652:CAT:C	donor_loss	0.6700
14:19713653:ATA:A	donor_loss	0.6700
14:19713654:TACC:T	donor_loss	0.6700
14:19713655:ACCA:A	donor_loss	0.6700
14:19713655:A:AC	donor_gain	0.6600
14:19713656:C:CC	donor_gain	0.6600
14:19713661:T:C	donor_gain	0.6300
14:19713227:A:T	acceptor_gain	0.6000
14:19713648:GAGAC:G	donor_loss	0.5800
14:19713649:AGACA:A	donor_loss	0.5800
14:19713843:T:C	donor_gain	0.5600
14:19713000:C:CC	acceptor_gain	0.5500
14:19713857:G:C	donor_gain	0.5400
14:19713723:C:CT	acceptor_gain	0.5200
14:19713772:T:TC	acceptor_gain	0.5200
14:19712998:GG:G	acceptor_gain	0.5100
14:19713130:C:CT	donor_gain	0.5000
14:19713542:TGATG:T	donor_gain	0.5000
14:19713551:C:T	acceptor_gain	0.4900
14:19713100:TG:T	donor_gain	0.4800
14:19713267:A:AC	donor_gain	0.4800
14:19713680:T:A	donor_loss	0.4800
14:19713032:C:CT	acceptor_gain	0.4700
14:19713218:A:C	acceptor_gain	0.4700
14:19713696:A:C	donor_gain	0.4700

AlphaMissense

2069 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:19713836:A:C	F27L	0.910
14:19713836:A:T	F27L	0.910
14:19713838:A:G	F27L	0.910
14:19713368:G:C	F183L	0.881
14:19713368:G:T	F183L	0.881
14:19713370:A:G	F183L	0.881
14:19713821:G:C	F32L	0.796
14:19713821:G:T	F32L	0.796
14:19713823:A:G	F32L	0.796
14:19713837:A:G	F27S	0.763
14:19713837:A:C	F27C	0.731
14:19713590:A:C	F109L	0.717
14:19713590:A:T	F109L	0.717
14:19713592:A:G	F109L	0.717
14:19713413:A:C	F168L	0.715
14:19713413:A:T	F168L	0.715
14:19713415:A:G	F168L	0.715
14:19713404:G:C	F171L	0.708
14:19713404:G:T	F171L	0.708
14:19713406:A:G	F171L	0.708
14:19713569:A:C	F116L	0.686
14:19713569:A:T	F116L	0.686
14:19713571:A:G	F116L	0.686
14:19713582:C:G	C112S	0.680
14:19713583:A:G	C112R	0.680
14:19713583:A:T	C112S	0.680
14:19713557:G:C	F120L	0.679
14:19713557:G:T	F120L	0.679
14:19713559:A:G	F120L	0.679
14:19713158:G:C	F253L	0.664

dbSNP variants (sampled 300 via entrez): RS1000271733 (14:19712918 G>A), RS1004415096 (14:19715009 T>A), RS1004446353 (14:19715312 G>A,T), RS1014271879 (14:19712485 A>G), RS1015254456 (14:19715052 A>C), RS1015786463 (14:19715333 G>A,C), RS1024830911 (14:19715465 A>C), RS1030205536 (14:19714766 T>C), RS1033449965 (14:19715132 C>T), RS1033726756 (14:19715369 A>C,G), RS1041699127 (14:19712598 A>C,G), RS1051305522 (14:19715291 A>G), RS1054530755 (14:19714128 G>C), RS1054839992 (14:19715262 A>C), RS1056674540 (14:19713608 C>G,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)

Clinical trials (associated diseases)

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