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 rec... See more...

Aliases for OR52B4 Gene

Aliases for OR52B4 Gene

  • Olfactory Receptor Family 52 Subfamily B Member 4 2 3 5
  • Olfactory Receptor OR11-3 3 4
  • Olfactory Receptor 52B4 3 4
  • Olfactory Receptor, Family 52, Subfamily B, Member 4 (Gene/Pseudogene) 2
  • Olfactory Receptor Family 52 Subfamily B Member 4 (Gene/Pseudogene) 2
  • OR11-3 3
  • OR52B4 5

External Ids for OR52B4 Gene

Previous GeneCards Identifiers for OR52B4 Gene

  • GC11U990505
  • GC11M004353
  • GC11M004345
  • GC11M004388

Summaries for OR52B4 Gene

Entrez Gene Summary for OR52B4 Gene

  • 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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

GeneCards Summary for OR52B4 Gene

OR52B4 (Olfactory Receptor Family 52 Subfamily B Member 4) is a Protein Coding gene. Among its related pathways are Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR52B2.

UniProtKB/Swiss-Prot Summary for OR52B4 Gene

Gene Wiki entry for OR52B4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR52B4 Gene

Genomics for OR52B4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR52B4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J004493 Enhancer 0.9 FANTOM5 ENCODE 10.1 -124.8 -124768 0.5 ZNF654 YY1 CTCF REST TRIM22 RAD51 RAD21 SMC3 EBF1 BHLHE40 OR52K2 OR52B4 TRIM21 OR51F1 OR52K1 OR52M2P OR52M1 lnc-OR52K2-1
GH11J004203 Enhancer 0.7 Ensembl ENCODE 10 +164.4 164420 0.5 ZNF316 NFE2 FOXK2 HNF4A RAD21 CTCF ZNF143 RNF2 lnc-SSU72P2-3 OR52K3P OR52K1 OR52B4 RRM1 HSALNG0082348-002 HSALNG0082348-001 LINC02749
GH11J003876 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 3.1 +489.3 489327 4.7 BCLAF1 IKZF1 ZNF600 NCOR1 ZNF592 KLF9 CEBPA NFIC YY1 BCL11A STIM1 RHOG ENSG00000229368 STIM1-AS1 ENSG00000206976 RRM1 NUP98 OR52B4 CHRNA10 piR-32214-074
GH11J004627 Enhancer 0.3 Ensembl 9.3 -259.2 -259215 1.6 CTCF OR51F2 OR52I2 C11orf40 OR51F1 OR52B4 TRIM68 HSALNG0082351 lnc-OR51D1-1 OR51D1
GH11J004492 Enhancer 0.2 FANTOM5 10.1 -124.0 -124030 0.1 OR52K2 OR51F1 OR52B4 OR51S1 OR51G2 OR51A4 OR52K1 C11orf40 OR52R1 OR51A7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR52B4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR52B4

Top Transcription factor binding sites by QIAGEN in the OR52B4 gene promoter:
  • c-Fos
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FosB
  • Fra-1

Genomic Locations for OR52B4 Gene

Latest Assembly
chr11:4,367,263-4,368,386
(GRCh38/hg38)
Size:
1,124 bases
Orientation:
Minus strand

Previous Assembly
chr11:4,388,493-4,389,616
(GRCh37/hg19 by Entrez Gene)
Size:
1,124 bases
Orientation:
Minus strand

chr11:4,388,493-4,389,616
(GRCh37/hg19 by Ensembl)
Size:
1,124 bases
Orientation:
Minus strand

Genomic View for OR52B4 Gene

Genes around OR52B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR52B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR52B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR52B4 Gene

Proteins for OR52B4 Gene

  • Protein details for OR52B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NGK2-O52B4_HUMAN
    Recommended name:
    Olfactory receptor 52B4
    Protein Accession:
    Q8NGK2
    Secondary Accessions:
    • A6NP68
    • Q6IFK6

    Protein attributes for OR52B4 Gene

    Size:
    314 amino acids
    Molecular mass:
    35584 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR52B4 Gene

Post-translational modifications for OR52B4 Gene

  • Glycosylation at Asn5
  • Modification sites at PhosphoSitePlus

Other Protein References for OR52B4 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR52B4 Gene

Domains & Families for OR52B4 Gene

Gene Families for OR52B4 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for OR52B4 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR52B4 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor, family 52, subfamily B, member 4 (B2RU22_HUMAN)
  • Olfactory receptor OR11-3 (O52B4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NGK2

UniProtKB/Swiss-Prot:

O52B4_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with OR52B4: view

Function for OR52B4 Gene

Molecular function for OR52B4 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR52B4 Gene

Gene Ontology (GO) - Molecular Function for OR52B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA --
genes like me logo Genes that share ontologies with OR52B4: view

Phenotypes for OR52B4 Gene

genes like me logo Genes that share phenotypes with OR52B4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52B4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR52B4 Gene

Localization for OR52B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR52B4 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OR52B4 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR52B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR52B4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR52B4 Gene

Pathways & Interactions for OR52B4 Gene

PathCards logo

SuperPathways for OR52B4 Gene

SuperPathway Contained pathways
1 Olfactory transduction
genes like me logo Genes that share pathways with OR52B4: view

Pathways by source for OR52B4 Gene

1 KEGG pathway for OR52B4 Gene

Interacting Proteins for OR52B4 Gene

Gene Ontology (GO) - Biological Process for OR52B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0050890 cognition IMP 23227193
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with OR52B4: view

No data available for SIGNOR curated interactions for OR52B4 Gene

Drugs & Compounds for OR52B4 Gene

No Compound Related Data Available

Transcripts for OR52B4 Gene

mRNA/cDNA for OR52B4 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52B4

Alternative Splicing Database (ASD) splice patterns (SP) for OR52B4 Gene

No ASD Table

Relevant External Links for OR52B4 Gene

GeneLoc Exon Structure for
OR52B4

Expression for OR52B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR52B4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR52B4

SOURCE GeneReport for Unigene cluster for OR52B4 Gene:

Hs.447463
genes like me logo Genes that share expression patterns with OR52B4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR52B4 Gene

Orthologs for OR52B4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR52B4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC466330 29
  • 98.94 (n)
OR52B4 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia OR52B4 29 30
  • 87.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Or52b4 45 Olfr547 29 16 30
  • 85.27 (n)
OneToMany
Olfr548-ps1 30
  • 79 (a)
OneToMany
Or52b20 45 Olfr548
  • chr7:102,541,938-102,542,879
Cow
(Bos Taurus)
Mammalia OR52B4 29 30
  • 84.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Olr41 29
  • 82.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 70 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
-- 30
  • 67 (a)
OneToMany
Species where no ortholog for OR52B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR52B4 Gene

ENSEMBL:
Gene Tree for OR52B4 (if available)
TreeFam:
Gene Tree for OR52B4 (if available)
Alliance of Genome Resources:
Additional Orthologs for OR52B4

Paralogs for OR52B4 Gene

(355) SIMAP similar genes for OR52B4 Gene using alignment to 2 proteins:

  • O52B4_HUMAN
  • B2RU22_HUMAN

Pseudogenes.org Pseudogenes for OR52B4 Gene

genes like me logo Genes that share paralogs with OR52B4: view

Variants for OR52B4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for OR52B4 Gene

O52B4_HUMAN-Q8NGK2
A stop codon at position Ala-40 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR52B4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11310407 Benign: not specified 4,368,174(-) AG/A
NM_001005161.3(OR52B4):c.121del (p.Leu41fs)
FRAMESHIFT
rs11031961 -- p.Thr139Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR52B4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OR52B4 Gene

Variant ID Type Subtype PubMed ID
dgv1022n100 CNV gain 25217958
dgv1023n100 CNV loss 25217958
dgv1582n54 CNV loss 21841781
dgv180e214 CNV gain 21293372
dgv181e214 CNV loss 21293372
esv2759797 CNV gain+loss 17122850
esv3625179 CNV loss 21293372
esv3891912 CNV gain+loss 25118596
nsv1051869 CNV gain+loss 25217958
nsv1053120 CNV gain 25217958
nsv428248 CNV gain+loss 18775914
nsv469800 CNV gain+loss 16826518
nsv553159 CNV gain 21841781
nsv832054 CNV gain 17160897

Variation tolerance for OR52B4 Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.44; 88.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR52B4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR52B4
Leiden Open Variation Database (LOVD)
OR52B4

SNP Genotyping and Copy Number Assays for research

Disorders for OR52B4 Gene

Additional Disease Information for OR52B4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for OR52B4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OR52B4 Gene

Publications for OR52B4 Gene

  1. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 40
  2. The human olfactory receptor gene family. (PMID: 14983052) Malnic B … Buck LB (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  3. GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. (PMID: 27892514) Riaz M … Baird PN (Scientific reports 2016) 3
  4. Personal receptor repertoires: olfaction as a model. (PMID: 22908908) Olender T … Lancet D (BMC genomics 2012) 3
  5. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 23227193) Swaminathan S … Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD Family Study Group (PloS one 2012) 3

Products for OR52B4 Gene

Sources for OR52B4 Gene