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OR4C46 Gene

protein-coding   GIFtS: 43
GCID: GC11P051524

Olfactory Receptor, Family 4, Subfamily C, Member 46

  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 4, Subfamily C, Member 461 2
Olfactory Receptor 4C462

External Ids:    HGNC: 312711   Entrez Gene: 1197492   Ensembl: ENSG000001859267   OMIM: 6142735   UniProtKB: A6NHA93   

Export aliases for OR4C46 gene to outside databases

Previous GC identifer: GC11P051371


(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 OR4C46 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for OR4C46 Gene:
OR4C46 (olfactory receptor, family 4, subfamily C, member 46) is a protein-coding gene. Diseases associated with OR4C46 include schizophrenia, and neuronitis. GO annotations related to this gene include G-protein coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR4C5.

UniProtKB/Swiss-Prot: O4C46_HUMAN, A6NHA9
Function: Odorant receptor (Potential)




(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_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OR4C46 gene promoter:
         SRF   Pbx1a   p53   AML1a   SRF (504 AA)   Bach2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   LCR-F1   
         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 OR4C46


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

Entrez Gene cytogenetic band: 11p11.12   Ensembl cytogenetic band:  11p11.12   HGNC cytogenetic band: 11p11.12

OR4C46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR4C46 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P051524:  view genomic region     (about GC identifiers)

Start:
51,515,282 bp from pter      End:
51,516,208 bp from pter
Size:
927 bases      Orientation:
plus 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: O4C46_HUMAN, A6NHA9 (See protein sequence)
Recommended Name: Olfactory receptor 4C46  
Size: 309 amino acids; 34533 Da

Explore the universe of human proteins at neXtProt for OR4C46: NX_A6NHA9

Explore proteomics data for OR4C46 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn6
  • Modification sites at PhosphoSitePlus
  • HORDE protein sequence for OR4C46

    See OR4C46 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001004703.1  
    ENSEMBL proteins: 
     ENSP00000329056  
    Reactome Protein details: A6NHA9

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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:
    OR4: GPCR / Class A : Olfactory receptors

    3 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000725 Olfact_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry A6NHA9

    ProtoNet protein and cluster: A6NHA9

    UniProtKB/Swiss-Prot: O4C46_HUMAN, A6NHA9
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR4C46 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: O4C46_HUMAN, A6NHA9
    Function: Odorant receptor (Potential)

         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--
         
    OR4C46 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
    O4C46_HUMAN, A6NHA9: 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 TAS--
    GO:0016021integral component of membrane IEA--

    OR4C46 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 OR4C46 About    
    See pathways by source

    SuperPathContained pathways About
    1Olfactory Signaling Pathway
    Olfactory Signaling Pathway0.82
    Olfactory transduction0.82
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for OR4C46
        Olfactory Signaling Pathway


    1 Kegg Pathway  (Kegg details for OR4C46):
        Olfactory transduction


    OR4C46 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR4C46
    Interactions:

        Search GeneGlobe Interaction Network for OR4C46

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OR4C46 (ENSP000003290564) via UniProtKB, MINT, STRING, and/or I2D (see all 273)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OR52E6ENSP000003288784STRING: ENSP00000369279 STRING: ENSP00000328878
    OR10AG1ENSP000003114774STRING: ENSP00000311477
    OR10J1ENSP000003990784STRING: ENSP00000399078
    OR1I1ENSP000002095404STRING: ENSP00000209540
    OR2W3ENSP000003535164STRING: ENSP00000353516
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----

    OR4C46 for ontologies           About GeneDecksing



    (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 OR4C46 (O4C46)



    (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 OR4C46 gene: 
    NM_001004703.1  

    Unigene Cluster for OR4C46:

    Olfactory receptor, family 4, subfamily C, member 46
    Hs.553564
    Unigene Representative Sequence: NM_001004703
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000328188(uc010ric.2)
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      QuantiFast Probe-based Assays in human, mouse, rat OR4C46

    1 AceView cDNA sequence:

    NM_001004703 

    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: AGACCTGCAG

    OR4C46 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR4C46 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.553564
        Custom PCR Arrays for OR4C46
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    In Situ
    Assay Products:
     

     
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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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    This gene was present in the common ancestor of human and mouse.

    Orthologs for OR4C46 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Olfr12581 , 5 olfactory receptor 12581, 5 82.13(n)1
    84.54(a)1
      2 (50.13 cM)5
    2589801  NM_146978.11  NP_667189.11 
     899273195 


    ENSEMBL Gene Tree for OR4C46 (if available)
    TreeFam Gene Tree for OR4C46 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR4C46 gene
    OR4C52  OR4S12  OR4A472  OR4X22  OR4A162  OR4C152  OR4C132  OR4C62  
    OR4C162  OR4C32  OR4X12  OR4S22  OR4A152  OR4C112  OR4A52  OR4C122  
    OR4B12  OR4A8P2  
    Selected SIMAP similar genes for OR4C46 using alignment to 1 protein entry:     O4C46_HUMAN(see all similar genes):
    OR4C13    OR4C12    OR4A15    OR4C15    OR4C3    OR4C6
    OR4A47    OR4A4P    OR4C5    OR4A5    OR4X1    OR4A16
    OR4A8P    OR4X2    OR4C11    OR4D1    OR4S2    OR4B1

    OR4C46 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for OR4C46
    PGOHUM00000242225 PGOHUM00000242227 PGOHUM00000250363 PGOHUM00000242697 PGOHUM00000242702


    (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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    Selected SNPs for OR4C46 (see all 201)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112466041,2
    C--51513320(+) ATCTCC/TGCCTC 1 -- us2k1 tfbs30--------
    rs1888308511,2
    --51513365(+) GAATAA/GCTGGG 1 -- us2k10--------
    rs1136473971,2
    C,F--51513378(+) TACAGG/TCACCT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1817391201,2
    --51513417(+) TTTTAA/GTAGAG 1 -- us2k10--------
    rs793146011,2
    C,F--51513434(+) TTTCAC/TCATGT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1424581871,2
    --51513446(+) AGCCAA/GGGTTG 1 -- us2k10--------
    rs618904161,2
    F--51513583(+) ACTTGG/ATGGGG 1 -- us2k12Minor allele frequency- A:0.05NA 122
    rs1863441431,2
    --51513587(+) GGTGGG/TGTGGG 1 -- us2k10--------
    rs1143274491,2
    F--51513655(+) ATTCAA/TTACCA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1164545341,2
    F--51513684(+) AACTCA/TAAGAT 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for OR4C46 ( 51515282 - 51516208 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OR4C46:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832151CNV Loss17160897
    dgv142n27CNV Gain19166990
    esv2751029CNV Gain17911159
    nsv897582CNV Gain21882294
    nsv516340CNV Gain+Loss19592680

    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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    OMIM gene information: 614273    OMIM disorders: --

    2 diseases for OR4C46:    
    About MalaCards
    schizophrenia    neuronitis


    OR4C46 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OR4C46

    Export disorders for OR4C46 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 OR4C46 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with OR4C46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing supports a de novo mutational paradigm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (Nat. Genet. 2011)
    2. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)

    (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: 119749 HGNC: 31271 AceView: OR4C46 Ensembl:ENSG00000185926 euGenes: HUgn119749
    ECgene: OR4C46 Kegg: 119749 H-InvDB: OR4C46

    (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 OR4C46 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR4C46 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 OR4C46 gene:
    Search GeneIP for patents involving OR4C46

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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