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Aliases for OR52B4 Gene

Aliases for OR52B4 Gene

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

External Ids for OR52B4 Gene

Previous GeneCards Identifiers for OR52B4 Gene

  • GC11U990505
  • GC11M004353
  • GC11M004345

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 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with OR52B4 include Macular Degeneration, Age-Related, 1. Among its related pathways are Olfactory Signaling Pathway. 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 for OR52B4 Gene

  • Odorant receptor.

Gene Wiki entry for OR52B4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OR52B4 Gene

Genomics for OR52B4 Gene

Regulatory Elements for OR52B4 Gene

Enhancers for OR52B4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F004493 1.3 FANTOM5 Ensembl ENCODE 10 -124.8 -124846 0.9 CTCF ZNF654 USF1 USF2 TRIM22 REST RAD21 JUND RAD51 ATF3 OR52K2 OR52B4 TRIM21 OR51F1 OR52K1 OR52M2P
GH11F004203 0.6 ENCODE 10 +164.6 164581 0.2 CTCF ZNF316 FOXK2 RNF2 NFE2 OR52K1 OR52K3P OR52B4 GC11M004210 LOC100506082
GH11F003875 1.6 FANTOM5 Ensembl ENCODE 3.1 +490.0 489986 6.8 HDGF PKNOX1 ARNT ARID4B FEZF1 DMAP1 YY1 GATA2 JUNB NCOA1 STIM1 RHOG RRM1 ENSG00000229368 LOC105376527 MIR4687 ENSG00000206976 ENSG00000230593 NUP98 OR52B4
GH11F004492 0.3 FANTOM5 10 -124.0 -124030 0.1 OR52K2 OR51F1 OR52B4 OR51S1 OR51G2 OR51A4 OR52K1 C11orf40 OR52R1 OR51A7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OR52B4 on UCSC Golden Path with GeneCards custom track

Genomic Location for OR52B4 Gene

Chromosome:
11
Start:
4,367,263 bp from pter
End:
4,368,386 bp from pter
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 Asn 5
  • 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

Protein Domains for OR52B4 Gene

Suggested Antigen Peptide Sequences for OR52B4 Gene

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.

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 IBA --
genes like me logo Genes that share ontologies with OR52B4: view

Phenotypes for OR52B4 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR52B4: view

Pathways & Interactions for OR52B4 Gene

SuperPathways for OR52B4 Gene

SuperPathway Contained pathways
1 Olfactory Signaling Pathway
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 IBA --
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

Transcripts for OR52B4 Gene

mRNA/cDNA for OR52B4 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OR52B4 Gene

Olfactory receptor, family 52, subfamily B, member 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for OR52B4 Gene

GeneLoc Exon Structure for
OR52B4
ECgene alternative splicing isoforms for
OR52B4

Expression for OR52B4 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of OR52B4 Gene:

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

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 and mRNA Expression by UniProt/SwissProt 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 34
  • 98.94 (n)
OR52B4 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OR52B4 34 35
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Or52b4 55 Olfr547 34 16 35
  • 85.27 (n)
Olfr548-ps1 35
  • 79 (a)
OneToMany
Or52b20 55 Olfr548
  • chr7:102,541,938-102,542,879
cow
(Bos Taurus)
Mammalia OR52B4 34 35
  • 84.39 (n)
rat
(Rattus norvegicus)
Mammalia Olr41 34
  • 82.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
Species where no ortholog for OR52B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for OR52B4 Gene

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

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 from dbSNP and Humsavar for OR52B4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs11031960 -- 4,367,675(+) ACCGT(C/T)GACAT reference, synonymous-codon
rs11031961 -- 4,367,880(+) CATTT(A/G)TAAGA reference, missense
rs11031965 -- 4,369,387(+) ACTTC(A/C)TCATT upstream-variant-2KB
rs11031966 -- 4,369,540(+) AAATA(A/G)ATTTA upstream-variant-2KB
rs11031972 -- 4,370,044(+) TTCCA(A/T)CTAGC upstream-variant-2KB

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

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

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)

Relevant External Links for OR52B4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR52B4

Disorders for OR52B4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR52B4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OR52B4

Genetic Association Database (GAD)
OR52B4
Human Genome Epidemiology (HuGE) Navigator
OR52B4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OR52B4
genes like me logo Genes that share disorders with OR52B4: view

No data available for 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. (Hum. Genet. 2010) 3 46 64
  2. The human olfactory receptor gene family. (PMID: 14983052) Malnic B. … Buck L.B. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64
  3. Personal receptor repertoires: olfaction as a model. (PMID: 22908908) Olender T. … Lancet D. (BMC Genomics 2012) 3 64
  4. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 23227193) Swaminathan S. … Saykin A.J. (PLoS ONE 2012) 3 64
  5. A probabilistic classifier for olfactory receptor pseudogenes. (PMID: 16939646) Menashe I. … Lancet D. (BMC Bioinformatics 2006) 3 64

Products for OR52B4 Gene

Sources for OR52B4 Gene

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