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OR52A4 Gene

pseudogene   GIFtS: 37
GCID: GC11M005141

Olfactory Receptor, Family 52, Subfamily A, Member 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Olfactory Receptor, Family 52, Subfamily A, Member 41 2

External Ids:    HGNC: 195791   Entrez Gene: 3900532   Ensembl: ENSG000002054947   UniProtKB: A6NMU13   

Export aliases for OR52A4 gene to outside databases

Previous GC identifers: GC00U903046 GC11M005098


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OR52A4 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. Although originally considered to be a functional olfactory receptor, this family member is
now considered to be pseudogene due to the presence of a C-terminal frameshift compared to other family members;
this is also consistent with the Classifier for Olfactory Receptor Pseudogenes (CORP), as described in
PMID:16939646. (provided by RefSeq, Jun 2011)

GeneCards Summary for OR52A4 Gene:
OR52A4 (olfactory receptor, family 52, subfamily A, member 4) is a pseudogene. Diseases associated with OR52A4 include beta thalassemia, and thalassemia. GO annotations related to this gene include G-protein coupled receptor activity and olfactory receptor activity.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the OR52A4 gene promoter:
         Max1   USF1   XBP-1   Evi-1   AREB6   USF-1   LyF-1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR52A4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

OR52A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR52A4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005141:  view genomic region     (about GC identifiers)

Start:
5,141,897 bp from pter      End:
5,142,808 bp from pter
Size:
912 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: O52A4_HUMAN, A6NMU1 (See protein sequence)
Recommended Name: Putative olfactory receptor 52A4  
Size: 304 amino acids; 34901 Da
Caution: Could be the product of a pseudogene. Has a truncated and frameshifted C-terminal region

Explore the universe of human proteins at neXtProt for OR52A4: NX_A6NMU1

Explore proteomics data for OR52A4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn7
  • HORDE protein sequence for OR52A4

    See OR52A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    Reactome Protein details: A6NMU1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    OR52: GPCR / Class A : Olfactory receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000725 Olfact_rcpt
     IPR019424 7TM_GPCR_olfarory/Srsx
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry A6NMU1

    ProtoNet protein and cluster: A6NMU1

    UniProtKB/Swiss-Prot: O52A4_HUMAN, A6NMU1
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR52A4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0004984olfactory receptor activity IEA--
         
    OR52A4 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    O52A4_HUMAN, A6NMU1: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    OR52A4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for OR52A4 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Olfactory Signaling Pathway
    Olfactory Signaling Pathway0.82

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for OR52A4
        Olfactory Signaling Pathway



    OR52A4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR52A4
    Interactions:

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OR52A4 (O52A4)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OR52A4 gene: 
    NM_001005222.2  

    Unigene Cluster for OR52A4:

    Olfactory receptor, family 52, subfamily A, member 4
    Hs.553729
    Unigene Representative Sequence: DQ656008
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472867 ENST00000498233(uc001maa.3) ENST00000481634 ENST00000380369

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    Additional mRNA sequence: 

    BC140752.1 DQ656008.2 DQ656009.2 

    1 DOTS entry:

    DT.120727315 

    1 AceView cDNA sequence:

    NM_001005222 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OR52A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTCCCCAT
    OR52A4 Expression
    About this image

    OR52A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR52A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.553729
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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      --

    ENSEMBL Gene Tree for OR52A4 (if available)
    TreeFam Gene Tree for OR52A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR52A4 gene
    Selected SIMAP similar genes for OR52A4 using alignment to 2 protein entries:     O52A4_HUMAN (see all proteins) (see all similar genes):
    OR52A1    OR52A5    OR52K1    OR52D1    OR52E1    OR52E2
    OR52K2    OR52R1    OR52E5    OR51E1    OR52E4    OR52J3
    OR51E2    OR52B6    OR52E6    OR52E8    OR52M1    OR51I2

    OR52A4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    4 SNPs for OR52A4    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79473341,2,4
    ----see VAR_0375402 mis40--------
    rs108373741,2,4
    ----see VAR_0620812 mis40--------
    rs44261291,2,4
    ----see VAR_0375422 mis40--------
    rs108373751,2,4
    ----see VAR_0375412 mis40--------

    HapMap Linkage Disequilibrium report for OR52A4 ( 5141897 - 5142808 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for OR52A4: --
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for OR52A4:    
    About MalaCards
    beta thalassemia    thalassemia    neuronitis


    OR52A4 for disorders           About GeneDecksing


    Export disorders for OR52A4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OR52A4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with OR52A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A probabilistic classifier for olfactory receptor pseudogenes. (PubMed id 16939646)1 Menashe I....Lancet D. (BMC Bioinformatics 2006)
    2. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 390053 HGNC: 19579 AceView: OR52A4 Ensembl:ENSG00000205494 euGenes: HUgn390053
    ECgene: OR52A4 H-InvDB: OR52A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OR52A4 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR52A4 The Human Olfactory Receptor Data Explorer at the Weizmann Institute of Science

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OR52A4 gene:
    Search GeneIP for patents involving OR52A4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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