OR56A4

Summary

OR56A4 (olfactory receptor family 56 subfamily A member 4, HGNC:14791) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 56A4 (Q8NGH8). 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 120793 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001005179

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14791
Approved symbol	OR56A4
Name	olfactory receptor family 56 subfamily A member 4
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183389
Ensembl biotype	protein_coding
Entrez	120793

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000330728, ENST00000641156, ENST00000641279, ENST00000641835

RefSeq mRNA: 1 — MANE Select: NM_001005179 NM_001005179

CCDS: CCDS31404

Canonical transcript exons

ENST00000641156 — 3 exons

Exon	Start	End
ENSE00003812685	6006918	6006946
ENSE00003813096	6006249	6006403
ENSE00003813595	5999445	6003028

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 76.38.

Top tissues by expression

133 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	76.38	gold quality
bone marrow cell	CL:0002092	51.99	gold quality
colonic epithelium	UBERON:0000397	46.50	gold quality
bone marrow	UBERON:0002371	42.09	gold quality
sural nerve	UBERON:0015488	42.07	gold quality
skeletal muscle tissue	UBERON:0001134	41.96	gold quality
ventricular zone	UBERON:0003053	40.14	gold quality
cortical plate	UBERON:0005343	39.85	gold quality
tonsil	UBERON:0002372	39.82	gold quality
muscle tissue	UBERON:0002385	37.37	gold quality
granulocyte	CL:0000094	36.66	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
monocyte	CL:0000576	35.31	gold quality
leukocyte	CL:0000738	35.17	gold quality
urinary bladder	UBERON:0001255	33.10	gold quality
liver	UBERON:0002107	33.02	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
blood	UBERON:0000178	30.42	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
calcaneal tendon	UBERON:0003701	29.85	gold quality
kidney	UBERON:0002113	29.58	gold quality
superior frontal gyrus	UBERON:0002661	29.41	gold quality
prefrontal cortex	UBERON:0000451	29.19	gold quality
lymph node	UBERON:0000029	28.89	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.33	gold quality
adult mammalian kidney	UBERON:0000082	27.17	gold quality
islet of Langerhans	UBERON:0000006	26.94	gold quality
muscle of leg	UBERON:0001383	26.84	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.42

Regulation

Is transcription factor: no

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	adra1ab	ENSDARG00000027638
danio_rerio	adra2db	ENSDARG00000054667
danio_rerio	adra2da	ENSDARG00000091277
mus_musculus	Or56a5	ENSMUSG00000044120
mus_musculus	Or56a4	ENSMUSG00000047225
rattus_norvegicus	Or56a3b	ENSRNOG00000017357
rattus_norvegicus	Olr193	ENSRNOG00000017366
caenorhabditis_elegans	ser-5	WBGENE00008890

Paralogs (18): ADRB1 (ENSG00000043591), ADRA1A (ENSG00000120907), DRD2 (ENSG00000149295), ADRA2A (ENSG00000150594), GPR101 (ENSG00000165370), ADRB2 (ENSG00000169252), ADRA1B (ENSG00000170214), ADRA1D (ENSG00000171873), OR5T3 (ENSG00000172489), OR56A1 (ENSG00000180934), OR5T1 (ENSG00000181698), OR5T2 (ENSG00000181718), ADRA2C (ENSG00000184160), OR56A3 (ENSG00000184478), OR13F1 (ENSG00000186881), OR56A5 (ENSG00000188691), ADRB3 (ENSG00000188778), ADRA2B (ENSG00000274286)

Protein

Protein identifiers

Olfactory receptor 56A4 — Q8NGH8 (reviewed: Q8NGH8)

Alternative names: Olfactory receptor OR11-49

All UniProt accessions (3): A0A126GWQ5, A0A2C9F2M6, Q8NGH8

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_001005179* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGH8-F1	86.77	0.55

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): 100–192

Glycosylation sites (2): 6, 184

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: 20 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), 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), signaling receptor activity (GO:0038023)

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
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	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
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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR56A4	CNGA4	Q8IV77	439
OR56A4	GPR171	O14626	391
OR56A4	GPR87	Q9BY21	383
OR56A4	GNG8	Q9UK08	381
OR56A4	CNGA2	Q16280	359
OR56A4	ATP13A4	Q4VNC1	348
OR56A4	CAPN8	A6NHC0	339
OR56A4	ANO2	Q9NQ90	335
OR56A4	GNG13	Q9P2W3	324
OR56A4	ATP11B	Q9Y2G3	322
OR56A4	GNAL	P38405	299
OR56A4	SRPK2	P78362	283
OR56A4	GNGT2	O14610	272
OR56A4	P2RY13	Q9BPV8	270
OR56A4	P2RY14	Q15391	254

IntAct

0 interactions, top by confidence:

BioGRID (1): OR56A4 (Negative Genetic)

ESM2 similar proteins: A0A3B3IT45, A6NMU1, A6NND4, O88628, P0C7T3, Q6W049, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGJ4, Q8NGJ8, Q8NGJ9, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK6, Q8NGU1, Q8NGW6, Q8NGY3, Q8NH53, Q8NH54, Q8NH55, Q8NH56, Q8NH57, Q8NH60, Q8NH61, Q8NH63, Q8NH67, Q8NH76, Q8TCB6, Q8VBV9

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

238 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6002386:A:AC	donor_gain	0.8300
11:6002387:C:CC	donor_gain	0.8300
11:6002414:A:AC	donor_gain	0.7900
11:6002379:G:A	donor_gain	0.7600
11:6002471:T:A	donor_gain	0.7600
11:6002365:A:C	donor_gain	0.7500
11:6002438:CAGG:C	donor_gain	0.7500
11:6002444:A:AC	donor_gain	0.7100
11:6002445:C:CC	donor_gain	0.7100
11:6002483:T:C	donor_gain	0.6500
11:6002375:G:A	donor_gain	0.6200
11:6002311:CAA:C	acceptor_gain	0.6000
11:6002224:CTGTG:C	acceptor_gain	0.5600
11:6002554:C:A	donor_gain	0.5600
11:6002441:G:C	donor_gain	0.5500
11:6002566:A:AC	donor_gain	0.5400
11:6002567:C:CC	donor_gain	0.5400
11:6002315:T:C	acceptor_gain	0.5300
11:6002314:C:CC	acceptor_gain	0.5200
11:6002322:A:C	acceptor_gain	0.5200
11:6002351:AAGAT:A	donor_gain	0.5100
11:6002413:CA:C	donor_gain	0.5100
11:6002559:G:C	donor_gain	0.5100
11:6002653:C:CA	donor_gain	0.5100
11:6002712:G:GT	donor_gain	0.5100
11:6002309:CACAA:C	acceptor_gain	0.5000
11:6002313:ACTTT:A	acceptor_gain	0.4900
11:6002314:CTTTC:C	acceptor_gain	0.4900
11:6002318:CAA:C	acceptor_gain	0.4900
11:6002320:A:AC	acceptor_gain	0.4900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000228741 (11:6008466 C>A,G), RS1000367823 (11:6002240 G>A), RS1000615652 (11:6007443 A>G), RS1000792354 (11:6001240 A>T), RS1001178058 (11:6006410 T>C), RS1001925164 (11:6001816 G>A,T), RS1002446814 (11:6008197 C>T), RS1003716900 (11:6004680 C>A), RS1004151341 (11:6000946 G>A,T), RS1004799393 (11:6006694 G>C), RS1005397078 (11:6008287 C>G), RS1005503596 (11:6003365 C>A,T), RS1005635048 (11:6005895 A>C,G), RS1005879900 (11:6008493 T>C), RS1006270371 (11:6003842 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

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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