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POLR1D Gene

protein-coding   GIFtS: 64
GCID: GC13P028194

Polymerase (RNA) I Polypeptide D, 16kDa

  See POLR1D-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
Polymerase (RNA) I Polypeptide D, 16kDa1 2     TCS22 5
RPA162 3 5     POLR1C2
AC192 3     RPA92
RPC162 3     RPO1-32
DNA-Directed RNA Polymerase I Subunit D2 3     DNA-Directed RNA Polymerases I And III Subunit RPAC22
RNA Polymerases I And III Subunit AC22 3     hRPA193
RPAC22 5     RNA Polymerase I 16 KDa Subunit3

External Ids:    HGNC: 204221   Entrez Gene: 510822   Ensembl: ENSG000001861847   OMIM: 6137155   UniProtKB: Q9Y2S03   

Export aliases for POLR1D gene to outside databases

Previous GC identifers: GC13P022176 GC13P027125 GC13P025994 GC13P025993 GC13P027093 GC13P009017


(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 POLR1D Gene:
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which
function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a
cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Apr 2011)

GeneCards Summary for POLR1D Gene:
POLR1D (polymerase (RNA) I polypeptide D, 16kDa) is a protein-coding gene. Diseases associated with POLR1D include polr1d-related treacher collins syndrome, and treacher collins syndrome 2. GO annotations related to this gene include protein dimerization activity and RNA polymerase III activity.

UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA
precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

Gene Wiki entry for POLR1D 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 at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLR1D gene promoter:
         AhR   FOXI1   Pbx1a   Pax-5   Lmo2   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR1D promoter sequence
   Search Chromatin IP Primers for POLR1D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLR1D


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

Entrez Gene cytogenetic band: 13q12.2   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12.2

POLR1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR1D gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P028194:  view genomic region     (about GC identifiers)

Start:
28,194,880 bp from pter      End:
28,241,559 bp from pter
Size:
46,680 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: RPAC2_HUMAN, Q9Y2S0 (See protein sequence)
Recommended Name: DNA-directed RNA polymerases I and III subunit RPAC2  
Size: 133 amino acids; 15237 Da
Subunit: Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at
least 13 and 17 subunits, respectively (By similarity)
Secondary accessions: Q5TBX2 Q96BR3
Alternative splicing: 2 isoforms:  Q9Y2S0-1   Q9Y2S0-2   (Contains a phosphoserine at position 104)

Explore the universe of human proteins at neXtProt for POLR1D: NX_Q9Y2S0

Explore proteomics data for POLR1D at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See POLR1D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001193488.1  NP_057056.1  NP_689918.1  

    ENSEMBL proteins: 
     ENSP00000302478   ENSP00000382604   ENSP00000382603  
    Reactome Protein details: Q9Y2S0

    POLR1D Human Recombinant Protein Products:

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    Novus Biologicals POLR1D Protein
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    Cloud-Clone Corp. Proteins for POLR1D

     
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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:
    POLR: RNA polymerase subunits

    2 InterPro protein domains:
     IPR008193 RNA_pol_Rpb11_13-16kDa_CS
     IPR009025 RBP11-like_dimer

    Graphical View of Domain Structure for InterPro Entry Q9Y2S0

    ProtoNet protein and cluster: Q9Y2S0

    1 Blocks protein domain: IPB008193 DNA-directed RNA polymerase

    UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
    Similarity: Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family


    Find genes that share domains with POLR1D           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPAC2_HUMAN, Q9Y2S0
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA
    precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001054contributes to RNA polymerase I activity IBA--
    GO:0001056contributes to RNA polymerase III activity IBA--
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with POLR1D           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLR1D
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    miRNA
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    miRTarBase miRNAs that target POLR1D:
    hsa-mir-98-5p (MIRT027718), hsa-mir-374a-3p (MIRT038262)

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    Selected qRT-PCR Assays for microRNAs that regulate POLR1D (see all 20):
    hsa-miR-30c hsa-miR-3685 hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-578 hsa-miR-488 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidPOLR1D 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for POLR1D 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR1D


    (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
    RPAC2_HUMAN, Q9Y2S0: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005666DNA-directed RNA polymerase III complex IBA--
    GO:0005736DNA-directed RNA polymerase I complex IBA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with POLR1D           About GenesLikeMe


    (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 POLR1D About   (see all 10)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation0.88
    RNA Polymerase III Transcription Termination0.58
    RNA Polymerase III Transcription0.88
    RNA polymerase0.45
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase III Chain Elongation0.00
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    Cytosolic DNA-sensing pathway0.33
    4RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    5RNA Polymerase I Promoter Escape
    RNA Polymerase I Promoter Escape0.88
    RNA Polymerase I Transcription Initiation0.55
    RNA Polymerase I Transcription Termination0.88


    Find genes that share SuperPaths with POLR1D           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR1D
        Assembly of RNA Polymerase-I Initiation Complex
    DNA Repair Mechanisms
    Inhibition of Ribosome Biogenesis by p14(ARF)

    1 GeneGo (Thomson Reuters) Pathway for POLR1D
        ATP/ITP metabolism

    2 BioSystems Pathways for POLR1D
        Eukaryotic Transcription Initiation
    TNF-alpha/NF-kB Signaling Pathway

    Selected Reactome Pathways for POLR1D (see all 12)
        RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression


    Selected Kegg Pathways  (Kegg details for POLR1D) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR1D
    Interactions:

        Search GeneGlobe Interaction Network for POLR1D

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

    Selected Interacting proteins for POLR1D (Q9Y2S02, 3 ENSP000003024784) via UniProtKB, MINT, STRING, and/or I2D (see all 192)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006360transcription from RNA polymerase I promoter TAS--
    GO:0006361transcription initiation from RNA polymerase I promoter TAS--
    GO:0006362transcription elongation from RNA polymerase I promoter TAS--
    GO:0006363termination of RNA polymerase I transcription TAS--

    Find genes that share ontologies with POLR1D           About GenesLikeMe



    (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 POLR1D (RPAC2)

    6 HMDB Compounds for POLR1D    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for POLR1D gene (3 alternative transcripts): 
    NM_001206559.1  NM_015972.3  NM_152705.2  

    Unigene Cluster for POLR1D:

    Polymerase (RNA) I polypeptide D, 16kDa
    Hs.507584  [show with all ESTs]
    Unigene Representative Sequence: NM_001206559
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302979(uc001uro.3) ENST00000399697(uc010aam.3 uc001urp.3 uc001urq.3)
    ENST00000465887 ENST00000489647 ENST00000472179 ENST00000399696
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate POLR1D (see all 20):
    hsa-miR-30c hsa-miR-3685 hsa-miR-539 hsa-miR-29a hsa-miR-29c hsa-miR-578 hsa-miR-488 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidPOLR1D 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat POLR1D
      QuantiFast Probe-based Assays in human, mouse, rat POLR1D

    Additional mRNA sequence: 

    AF077044.1 AK000623.1 AK097973.1 AK307356.1 AK311833.1 BC000889.1 BC006972.1 BC015319.2 
    BC018528.1 BC054519.1 

    15 DOTS entries:

    DT.118938  DT.454517  DT.120775982  DT.120776064  DT.100659869  DT.95374196  DT.100707580  DT.439378 
    DT.100022133  DT.100026787  DT.97766265  DT.118941  DT.120776076  DT.95375465  DT.40283150 

    Selected AceView cDNA sequences (see all 427):

    AA846388 BM693719 BU189919 BU689230 BF591424 CN479573 BM699121 BQ004736 
    BI253733 BC000889 AW301162 BU947724 AL583569 AA366494 BE566061 AA954182 
    CD671876 BU931959 CR607657 AW518262 BM544526 AI493194 CR607937 N71041 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for POLR1D    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:                          -                 -                     
    SP2:        -     -     -     -           -     -                     
    SP3:                          -           -     -                     
    SP4:                          -                                       
    SP5:                                                                  


    ECgene alternative splicing isoforms for POLR1D

    (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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    POLR1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTGACAA
    POLR1D Expression
    About this image


    POLR1D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebellum
    POLR1D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR1D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.507584
        Custom PCR Arrays for POLR1D
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR1D

    (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 animals and fungi.

    Orthologs for POLR1D gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr1d1 , 5 polymerase (RNA) I polypeptide D1, 5 92.48(n)1
    90.23(a)1
      5 (86.73 cM)5
    200181  NM_009087.21  NP_033113.11 
     1470770505 
    chicken
    (Gallus gallus)
    Aves POLR1D1 polymerase (RNA) I polypeptide D, 16kDa 74.69(n)
    78.7(a)
      428713  XM_426271.4  XP_426271.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLR1D6
    polymerase (RNA) I polypeptide D, 16kDa
    63(a)
    1 ↔ 1
    GL343202.1(1812536-1817035)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004953691 DNA-directed RNA polymerases I and III subunit RPAC2-like 74.77(n)
    78.5(a)
      100495369  XM_002937049.2  XP_002937095.1 
    zebrafish
    (Danio rerio)
    Actinopterygii polr1d1 polymerase (RNA) I polypeptide D 67.27(n)
    66.36(a)
      445412  NM_001003888.1  NP_001003888.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)37Cg1 lethal (2) 37Cg 54.51(n)
    43.53(a)
      35196  NM_001273634.1  NP_001260563.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rpac-196
    Protein RPAC-19 (rpac-19) mRNA, complete cds
    26(a)
    1 ↔ 1
    III(9629246-9629917) WBGene00010230
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPC19(YNL113W)4
    RPC191
    RNA polymerase subunit AC19, common to RNA polymerases more4
    RPC191
    55.46(n)1
    45.38(a)1
      14(412771-413199)4
    8556091, 4  NP_014286.11, 4 


    ENSEMBL Gene Tree for POLR1D (if available)
    TreeFam Gene Tree for POLR1D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLR1D gene
    4 SIMAP similar genes for POLR1D using alignment to 2 protein entries:     RPAC2_HUMAN (see all proteins):
    POLR2J    POLR2J1    POLR2J3    POLR2J2

    Find genes that share paralogs with POLR1D           About GenesLikeMe



    (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 POLR1D (see all 1006)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648934
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648932 T I mis40--------
    VAR_0648964
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648962 R C mis40--------
    VAR_0648944
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648942 L R mis40--------
    VAR_0648924
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648922 E K mis40--------
    VAR_0648984
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648982 G S mis40--------
    VAR_0648954
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648952 G E mis40--------
    VAR_0648974
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648972 L S mis40--------
    rs1407887991,2
    C--9040154(+) ATATT-/CTCCTATT 2 -- int10--------
    rs608888741,2
    C--9057765(+) CCCCC-/C/CC  
            
    ACCAC
    2 -- int11NA 2
    rs1844417821,2
    --9147118(+) CCTTCA/GGCCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLR1D (28194880 - 28241559 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for POLR1D:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523599CNV Loss19592680

    Human Gene Mutation Database (HGMD): POLR1D
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR1D
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR1D

    (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: 613715   
    OMIM disorders: 613717  
    UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
  • Treacher Collins syndrome 2 (TCS2) [MIM:613717]: A form of Treacher Collins syndrome, a disorder of
    craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward
    slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the
    defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external
    auditory canals, and bilateral conductive hearing loss. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for POLR1D:    
    About MalaCards
    polr1d-related treacher collins syndrome    treacher collins syndrome 2    treacher collins syndrome    treacher collins syndrome 3

    1 disease from the University of Copenhagen DISEASES database for POLR1D:
    Treacher Collins syndrome

    Find genes that share disorders with POLR1D           About GenesLikeMe

    Genetic Association Database (GAD): POLR1D
    Human Genome Epidemiology (HuGE) Navigator: POLR1D (4 documents)

    Export disorders for POLR1D 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 POLR1D gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with POLR1D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PubMed id 12391170)1, 2, 3 Hu P....Hernandez N. (Mol. Cell. Biol. 2002)
    2. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PubMed id 21131976)1, 2 Dauwerse J.G.... Wieczorek D. (Nat. Genet. 2011)
    3. Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. (PubMed id 21471979)1, 4 Kumar V....Matsuda K. (J. Hum. Genet. 2011)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    8. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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)

    (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: 51082 HGNC: 20422 AceView: POLR1D Ensembl:ENSG00000186184 euGenes: HUgn51082
    ECgene: POLR1D Kegg: 51082 H-InvDB: POLR1D

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for POLR1D Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for POLR1D gene:
    Search GeneIP for patents involving POLR1D

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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