OR56B4

Summary

OR56B4 (olfactory receptor family 56 subfamily B member 4, HGNC:15248) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 56B4 (Q8NH76). 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 196335 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_001005181

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15248
Approved symbol	OR56B4
Name	olfactory receptor family 56 subfamily B member 4
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180919
Ensembl biotype	protein_coding
Entrez	196335

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000316529

RefSeq mRNA: 1 — MANE Select: NM_001005181 NM_001005181

CCDS: CCDS31406

Canonical transcript exons

ENST00000316529 — 1 exons

Exon	Start	End
ENSE00001255705	6107684	6108835

Expression profiles

Bgee: expression breadth broad, 14 present calls, max score 50.81.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	50.81	gold quality
smooth muscle tissue	UBERON:0001135	45.33	gold quality
bone marrow cell	CL:0002092	43.45	gold quality
colonic epithelium	UBERON:0000397	42.37	gold quality
mucosa of transverse colon	UBERON:0004991	41.70	silver quality
monocyte	CL:0000576	41.39	silver quality
leukocyte	CL:0000738	40.79	silver quality
stromal cell of endometrium	CL:0002255	39.87	gold quality
granulocyte	CL:0000094	39.05	gold quality
muscle tissue	UBERON:0002385	37.27	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
rectum	UBERON:0001052	35.86	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.47	gold quality
skeletal muscle tissue	UBERON:0001134	35.21	gold quality
vermiform appendix	UBERON:0001154	33.68	silver quality
mucosa of stomach	UBERON:0001199	33.46	gold quality
islet of Langerhans	UBERON:0000006	33.26	gold quality
duodenum	UBERON:0002114	33.23	silver quality
liver	UBERON:0002107	32.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
endometrium	UBERON:0001295	31.90	gold quality
right coronary artery	UBERON:0001625	31.72	silver quality
pancreas	UBERON:0001264	31.53	silver quality
sural nerve	UBERON:0015488	30.93	gold quality
placenta	UBERON:0001987	30.45	silver quality
lymph node	UBERON:0000029	30.23	gold quality
right uterine tube	UBERON:0001302	30.20	gold quality
right lobe of liver	UBERON:0001114	29.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.31

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or56b35	ENSMUSG00000073907
mus_musculus	Or56b34	ENSMUSG00000073909
rattus_norvegicus	Or56b6	ENSRNOG00000082559
rattus_norvegicus	Or56b6c	ENSRNOG00000083878

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 56B4 — Q8NH76 (reviewed: Q8NH76)

Alternative names: Olfactory receptor OR11-67

All UniProt accessions (1): Q8NH76

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_001005181* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH76-F1	81.03	0.35

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): 103–195

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 22 (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, CHEN_METABOLIC_SYNDROM_NETWORK, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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-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 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

98 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR56B4	GPR87	Q9BY21	524
OR56B4	CNGA4	Q8IV77	495
OR56B4	GPR171	O14626	455
OR56B4	BOLL	Q8N9W6	365
OR56B4	ABCA9	Q8IUA7	348
OR56B4	P2RY13	Q9BPV8	322
OR56B4	P2RY14	Q15391	313
OR56B4	TAS2R9	Q9NYW1	306
OR56B4	TAS2R39	P59534	249
OR56B4	CCKAR	P32238	248
OR56B4	TAS2R31	P59538	248
OR56B4	BZW1	Q7L1Q6	243
OR56B4	TAS2R46	P59540	235
OR56B4	ZNF366	Q8N895	234
OR56B4	PRNP	P04156	228
OR56B4	TAS2R43	P59537	228

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR56B4	CD28	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): CD28 (Affinity Capture-MS)

ESM2 similar proteins: A0A3B3IT45, A6NGY5, A6NMU1, B3DH96, O88628, P0C646, P0C7T3, Q5J3E5, Q5J3G9, Q5J3M9, Q5QD29, Q6IF63, Q6W049, Q8NGB9, Q8NGD3, Q8NGF0, Q8NGF1, Q8NGH6, Q8NGH7, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGJ4, Q8NGJ8, Q8NGJ9, Q8NGK5, Q8NGK6, Q8NGV6, Q8NH53, Q8NH55, Q8NH56, Q8NH60, Q8NH61, Q8NH63, Q8NH67, Q8NH76, Q8NHC6, 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

283 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6108067:GCCAT:G	donor_gain	0.6400
11:6108135:C:T	donor_gain	0.6400
11:6108419:G:GT	donor_gain	0.6300
11:6107853:C:T	donor_gain	0.6100
11:6108425:A:AG	donor_gain	0.6100
11:6107769:C:T	donor_gain	0.5900
11:6108151:G:GT	donor_gain	0.5800
11:6108343:G:GT	donor_gain	0.5800
11:6107716:C:G	donor_gain	0.5600
11:6108129:G:GG	donor_gain	0.5500
11:6108162:A:G	donor_gain	0.5500
11:6108416:TTGG:T	donor_gain	0.5500
11:6108058:G:GT	donor_gain	0.5400
11:6108128:A:AG	donor_gain	0.5400
11:6108450:T:G	acceptor_gain	0.5400
11:6108505:GCTC:G	donor_gain	0.5300
11:6108055:TTTG:T	donor_gain	0.5200
11:6108222:CAAAG:C	acceptor_gain	0.5200
11:6108223:AAAGC:A	acceptor_gain	0.5200
11:6108224:AAGCC:A	acceptor_gain	0.5100
11:6108225:AGCCA:A	acceptor_gain	0.5100
11:6108675:G:GT	donor_gain	0.5100
11:6108221:TCAAA:T	acceptor_gain	0.5000
11:6108226:G:GC	acceptor_gain	0.4800
11:6108349:A:AG	donor_gain	0.4800
11:6108456:A:AG	acceptor_gain	0.4800
11:6108457:A:AG	donor_gain	0.4800
11:6108309:G:GT	donor_gain	0.4600
11:6108449:ATGCT:A	acceptor_gain	0.4600
11:6108310:A:T	donor_gain	0.4500

AlphaMissense

2095 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6107830:T:C	F18L	0.907
11:6107832:C:A	F18L	0.907
11:6107832:C:G	F18L	0.907
11:6108088:T:C	F104L	0.832
11:6108090:T:A	F104L	0.832
11:6108090:T:G	F104L	0.832
11:6107831:T:C	F18S	0.737
11:6108421:A:C	S215R	0.722
11:6108423:T:A	S215R	0.722
11:6108423:T:G	S215R	0.722
11:6108055:T:C	F93L	0.697
11:6108057:T:A	F93L	0.697
11:6108057:T:G	F93L	0.697
11:6108214:T:C	F146L	0.691
11:6108216:T:A	F146L	0.691
11:6108216:T:G	F146L	0.691
11:6108544:T:C	F256L	0.675
11:6108546:C:A	F256L	0.675
11:6108546:C:G	F256L	0.675
11:6108087:T:G	C103W	0.663
11:6108096:G:C	Q106H	0.660
11:6108096:G:T	Q106H	0.660
11:6108286:G:C	A170P	0.638
11:6108249:G:C	R157S	0.637
11:6108249:G:T	R157S	0.637
11:6108139:T:C	F121L	0.634
11:6108141:T:A	F121L	0.634
11:6108141:T:G	F121L	0.634
11:6108052:T:A	W92R	0.623
11:6108052:T:C	W92R	0.623

dbSNP variants (sampled 300 via entrez): RS1000858106 (11:6107007 T>C), RS1000908823 (11:6106653 C>T), RS1001731648 (11:6105968 T>C), RS1002544136 (11:6107522 G>A), RS1002616242 (11:6107846 T>C), RS1002734914 (11:6107479 C>T), RS1003551011 (11:6106030 C>T), RS1003743185 (11:6108583 G>A,T), RS1004322117 (11:6106017 A>T), RS1004394145 (11:6106165 G>A,C), RS1005991607 (11:6107495 C>G), RS1006090435 (11:6107896 C>T), RS1006554393 (11:6107697 A>G), RS1007779098 (11:6109218 C>A,T), RS1008120122 (11:6108872 C>A,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

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)

Clinical trials (associated diseases)

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