OR11H4

Summary

OR11H4 (olfactory receptor family 11 subfamily H member 4, HGNC:15347) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 11H4 (Q8NGC9). 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 390442 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_001004479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15347
Approved symbol	OR11H4
Name	olfactory receptor family 11 subfamily H member 4
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176198
Ensembl biotype	protein_coding
Entrez	390442

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641082, ENST00000641525

RefSeq mRNA: 1 — MANE Select: NM_001004479 NM_001004479

CCDS: CCDS32034

Canonical transcript exons

ENST00000641082 — 2 exons

Exon	Start	End
ENSE00003813775	20239286	20239331
ENSE00003814122	20242811	20244349

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 40.05.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	40.05	silver quality
sural nerve	UBERON:0015488	39.43	gold quality
bone marrow cell	CL:0002092	38.27	gold quality
calcaneal tendon	UBERON:0003701	38.18	gold quality
apex of heart	UBERON:0002098	37.24	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	37.13	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
superior frontal gyrus	UBERON:0002661	34.33	silver quality
primary visual cortex	UBERON:0002436	34.12	gold quality
cerebellar cortex	UBERON:0002129	33.39	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
cerebellum	UBERON:0002037	33.35	gold quality
cerebellar hemisphere	UBERON:0002245	33.21	gold quality
tonsil	UBERON:0002372	33.00	gold quality
bone marrow	UBERON:0002371	32.82	gold quality
muscle tissue	UBERON:0002385	32.22	gold quality
prefrontal cortex	UBERON:0000451	32.19	gold quality
endometrium	UBERON:0001295	31.89	silver quality
right hemisphere of cerebellum	UBERON:0014890	31.81	gold quality
right uterine tube	UBERON:0001302	31.58	gold quality
leukocyte	CL:0000738	31.56	gold quality
liver	UBERON:0002107	31.49	gold quality
monocyte	CL:0000576	31.32	gold quality
ectocervix	UBERON:0012249	31.15	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
uterine cervix	UBERON:0000002	29.81	gold quality
nucleus accumbens	UBERON:0001882	29.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.80

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or11h4b	ENSMUSG00000057179
mus_musculus	Or11h4	ENSMUSG00000059069
rattus_norvegicus		ENSRNOG00000074338
rattus_norvegicus	Olr1633	ENSRNOG00000077808
rattus_norvegicus	Or11h4c	ENSRNOG00000090777

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), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR11A1 (ENSG00000204694), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR9A4 (ENSG00000258083), OR11H2 (ENSG00000258453), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)

Protein

Protein identifiers

Olfactory receptor 11H4 — Q8NGC9 (reviewed: Q8NGC9)

Alternative names: Olfactory receptor OR14-36

All UniProt accessions (1): A0A286YFI7

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_001004479* (*=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 (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGC9-F1	87.54	0.68

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): 107–199

Glycosylation sites (1): 12

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 28 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF22_TARGET_GENES, GSE17721_POLYIC_VS_CPG_0.5H_BMDC_UP, GSE17721_POLYIC_VS_GARDIQUIMOD_12H_BMDC_UP

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

308 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR11H4	RTP2	Q5QGT7	451
OR11H4	C6orf120	Q7Z4R8	418
OR11H4	ANKRD36C	Q5JPF3	372
OR11H4	DHRSX	Q8N5I4	356
OR11H4	FSIP1	Q8NA03	348
OR11H4	RIC8B	Q9NVN3	348
OR11H4	SMPDL3A	Q92484	328
OR11H4	OR2AG2	A6NM03	327
OR11H4	VAT1L	Q9HCJ6	324
OR11H4	TTC28	Q96AY4	317
OR11H4	CENPQ	Q7L2Z9	314
OR11H4	OR10A6	Q8NH74	307
OR11H4	EVI2B	P34910	302
OR11H4	CEP43	O95684	292
OR11H4	SPTBN5	Q9NRC6	290

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

235 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20243684:T:TA	acceptor_gain	0.9700
14:20242966:G:GG	donor_gain	0.9400
14:20242970:G:GT	donor_gain	0.9400
14:20243691:T:G	acceptor_gain	0.9400
14:20242965:A:AG	donor_gain	0.9300
14:20243499:TCAGG:T	acceptor_gain	0.8500
14:20243500:CAGG:C	acceptor_gain	0.8500
14:20243692:A:AG	acceptor_gain	0.8200
14:20242916:T:TA	acceptor_gain	0.7800
14:20243169:A:AG	acceptor_gain	0.7800
14:20243170:G:GG	acceptor_gain	0.7800
14:20243690:A:AG	acceptor_gain	0.7700
14:20242921:A:AG	donor_gain	0.7600
14:20242884:G:GT	donor_gain	0.7500
14:20243705:A:G	acceptor_gain	0.7400
14:20242997:T:G	donor_gain	0.7300
14:20243501:AGG:A	acceptor_gain	0.7200
14:20243502:G:T	acceptor_gain	0.7000
14:20243037:G:GG	donor_gain	0.6900
14:20243141:T:A	acceptor_gain	0.6900
14:20243701:A:AG	acceptor_gain	0.6900
14:20243498:TTCAG:T	acceptor_gain	0.6700
14:20243032:ATCTG:A	donor_loss	0.6500
14:20243033:TCTG:T	donor_loss	0.6500
14:20243034:CTG:C	donor_loss	0.6500
14:20243035:TGGT:T	donor_loss	0.6500
14:20243036:GGTA:G	donor_loss	0.6500
14:20243038:TATGT:T	donor_loss	0.6500
14:20243693:C:G	acceptor_gain	0.6500
14:20243170:GTAAT:G	acceptor_gain	0.6400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000236649 (14:20238555 A>G), RS1000357180 (14:20241958 A>C,G,T), RS1001020534 (14:20241008 C>G,T), RS1001063780 (14:20244578 G>A), RS1001170743 (14:20239114 C>T), RS1001395304 (14:20243166 G>A), RS1001646529 (14:20239325 A>G), RS1001919550 (14:20241597 G>A), RS1002247414 (14:20240239 G>A), RS1002333970 (14:20243865 G>A,T), RS1002617010 (14:20244173 T>A), RS1002980257 (14:20240501 A>T), RS1003176622 (14:20241083 T>C), RS1003351987 (14:20242520 T>G), RS1004092475 (14:20241843 A>G)

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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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