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OR12D2 Gene

protein-coding   GIFtS: 51
GCID: GC06P029364

Olfactory Receptor, Family 12, Subfamily D, Member 2 (Gene/Pseudogene)

(Previous names: olfactory receptor, family 12, subfamily D, member 2)
  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 12, Subfamily D, Member 2
(Gene/Pseudogene)1
     HS6M1-202
Olfactory Receptor, Family 12, Subfamily D, Member 21 2     Olfactory Receptor 12D22
Olfactory Receptor OR6-282 3     Hs6M1-203
DJ994E9.82     

External Ids:    HGNC: 81781   Entrez Gene: 265292   Ensembl: ENSG000001687877   UniProtKB: P581823   

Export aliases for OR12D2 gene to outside databases

Previous GC identifers: GC06P029421 GC06P029135 GC06P029472 GC06P029172


(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 OR12D2 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 OR12D2 Gene:
OR12D2 (olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)) is a protein-coding gene. Diseases associated with OR12D2 include systemic lupus erythematosus, and lupus erythematosus. GO annotations related to this gene include G-protein coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR12D3.

UniProtKB/Swiss-Prot: O12D2_HUMAN, P58182
Function: Odorant receptor (Potential)

Gene Wiki entry for OR12D2 Gene


(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_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OR12D2 gene promoter:
         GR   AML1a   FOXF2   Brachyury   GR-beta   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOR12D2 promoter sequence
   Search Chromatin IP Primers for OR12D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR12D2


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

Entrez Gene cytogenetic band: 6p22.2-p21.31   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p22.2-p21.31

OR12D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR12D2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P029364:  view genomic region     (about GC identifiers)

Start:
29,364,477 bp from pter      End:
29,365,397 bp from pter
Size:
921 bases      Orientation:
plus strand

5 alternative locations:
Chr6+,NT_167247 667,598-668,630      Chr6+,NT_113891.2 883,206-884,238      Chr6+,NT_167249 704,942-705,974     
Chr6+,NT_167246 667,404-668,436      Chr6+,NT_167245 667,733-668,765     

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: O12D2_HUMAN, P58182 (See protein sequence)
Recommended Name: Olfactory receptor 12D2  
Size: 307 amino acids; 34813 Da
Secondary accessions: B0S862 Q5SUN9 Q6IET9

Explore the universe of human proteins at neXtProt for OR12D2: NX_P58182

Explore proteomics data for OR12D2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn3
  • Modification sites at PhosphoSitePlus
  • HORDE protein sequence for OR12D2

    See OR12D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_039224.2  
    ENSEMBL proteins: 
     ENSP00000373047  
    Reactome Protein details: P58182

    OR12D2 Human Recombinant Protein Products:

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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:
    OR12: 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 P58182

    ProtoNet protein and cluster: P58182

    1 Blocks protein domain: IPB000725 Olfactory receptor signature

    UniProtKB/Swiss-Prot: O12D2_HUMAN, P58182
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR12D2 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: O12D2_HUMAN, P58182
    Function: Odorant receptor (Potential)

         Genatlas biochemistry entry for OR12D2:
    olfactory receptor,family 12,subfamily D,member 2,G protein coupled receptor superfamily

         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--
         
    OR12D2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OR12D2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OR12D2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OR12D2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OR12D2

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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
    O12D2_HUMAN, P58182: 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--

    OR12D2 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 OR12D2 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 OR12D2
        Olfactory Signaling Pathway


    1 Kegg Pathway  (Kegg details for OR12D2):
        Olfactory transduction


    OR12D2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR12D2
    Interactions:

        Search GeneGlobe Interaction Network for OR12D2

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

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

    OR12D2 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 OR12D2 (O12D2)



    (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,
    Conferences by KenesGroup, 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 OR12D2 gene: 
    NM_013936.3  

    Unigene Cluster for OR12D2:

    Olfactory receptor, family 12, subfamily D, member 2
    Hs.247862
    Unigene Representative Sequence: NM_013936
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000383555(uc003nmf.4)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat OR12D2
      QuantiFast Probe-based Assays in human, mouse, rat OR12D2

    Additional mRNA sequence: 

    AJ459861.1 BC069123.1 BC101742.1 BC101746.1 

    1 DOTS entry:

    DT.92006718 

    3 AceView cDNA sequences:

    NM_013936 AJ459861 BC069123 

    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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    OR12D2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGGACC
    OR12D2 Expression
    About this image

    OR12D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR12D2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.247862
        Custom PCR Arrays for OR12D2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OR12D2

    (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 chordates.

    Orthologs for OR12D2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Olfr1021 olfactory receptor 102 80.83(n)
    80.07(a)
      258218  NM_001011721.2  NP_001011721.2 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    56(a)
    1 → many
    10(283204-284133)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004972401 olfactory receptor 12D2-like 58.97(n)
    50.5(a)
      100497240  XM_002942735.2  XP_002942781.2 


    ENSEMBL Gene Tree for OR12D2 (if available)
    TreeFam Gene Tree for OR12D2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR12D2 gene
    OR12D32  OR12D12  
    Selected SIMAP similar genes for OR12D2 using alignment to 1 protein entry:     O12D2_HUMAN(see all similar genes):
    OR12D3    OR1L4    OR5V1    OR8U1    OR8U9    OR1A1
    OR1L6    OR8U8    OR1D2    OR1E1    OR1L3    OR2B8P
    OR3A3    OR4D5    OR4E2    OR5A1    OR5AR1    OR5B3

    OR12D2 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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    Selected SNPs for OR12D2 (see all 119)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs13620631,2
    C,F,O,A,H--29362293(-) CTGTAC/TGAAAA 1 -- us2k127Minor allele frequency- T:0.34NS EA NA WA 3254
    rs13620621,2
    H--29362332(-) TTTTCC/TTAACG 1 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs734033361,2
    C--29362482(+) GAAAAA/GTATGC 1 -- us2k14Minor allele frequency- G:0.03WA NA EA 360
    rs92578241,2
    C,F,A--29362507(+) TCAAAT/GAAAGC 1 -- us2k111Minor allele frequency- G:0.34NA EA WA 864
    rs1145522181,2
    C,F--29362601(+) CCAAAT/CATCCT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs92578251,2
    C,F,H--29362696(+) TTTCAA/GCCTCG 1 -- us2k117Minor allele frequency- G:0.33NS EA NA WA 1416
    rs794717151,2
    C--29362701(+) ACCTCG/CAATTA 1 -- us2k12Minor allele frequency- C:0.06WA 120
    rs1808047841,2
    --29362740(+) TCTGCA/GTCTTT 1 -- us2k10--------
    rs92578261,2
    C,F,H--29362756(+) GATTTC/TCTATT 1 -- us2k17Minor allele frequency- T:0.11NS EA WA NA 764
    rs92578271,2
    C,F,H--29362903(+) TATGTC/TTGCTT 1 -- us2k115Minor allele frequency- T:0.33NS EA WA NA 2334

    HapMap Linkage Disequilibrium report for OR12D2 ( 29364477 - 29365397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OR12D2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731763CNV Deletion23290073
    esv2667426CNV Deletion23128226
    esv2731760CNV Deletion23290073
    esv2639371CNV Deletion19546169
    nsv830624CNV Loss17160897

    Human Gene Mutation Database (HGMD): OR12D2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OR12D2
    DNA2.0 Custom Variant and Variant Library Synthesis for OR12D2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases for OR12D2:    
    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    neuronitis


    OR12D2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OR12D2
    Human Genome Epidemiology (HuGE) Navigator: OR12D2 (3 documents)

    Export disorders for OR12D2 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 OR12D2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with OR12D2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variations at the human leukocyte antigen-linked olfactory receptor cluster do not influence female preferences for male odors. (PubMed id 19833159)1, 4 Thompson E.E....Ober C. (Hum. Immunol. 2010)
    2. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The human olfactory receptor gene family. (PubMed id 14983052)1, 2 Malnic B.... Buck L.B. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PubMed id 21946350)1 Soler Artigas M....Tobin M.D. (Nat. Genet. 2011)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    8. Complex transcription and splicing of odorant receptor genes. (PubMed id 12637542)1 Volz A.... Ziegler A. (J. Biol. Chem. 2003)
    9. 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)
    10. Characterization of clustered MHC-linked olfactory receptor genes in human and mouse. (PubMed id 11282967)1 Younger R.M....Beck S. (Genome Res. 2001)

    (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: 26529 HGNC: 8178 AceView: OR12D2 Ensembl:ENSG00000168787 euGenes: HUgn26529
    ECgene: OR12D2 Kegg: 26529 H-InvDB: OR12D2

    (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 OR12D2 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR12D2 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 OR12D2 gene:
    Search GeneIP for patents involving OR12D2

    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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