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RERE Gene

protein-coding   GIFtS: 59
GCID: GC01M008412

Arginine-Glutamic Acid Dipeptide (RE) Repeats


(Previous symbol: ATN1L)
  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
Arginine-Glutamic Acid Dipeptide (RE) Repeats1 2     DNB12
ATN1L1 2 3     Arginine-Glutamic Acid Dipeptide Repeats Protein2
Atrophin-1-Like Protein2 3     Atrophin 22
Atrophin-1-Related Protein2 3     Atrophin-1 Like Protein2
ARG2 3     Atrophin-1 Related Protein2
ARP2 3     KIAA04583

External Ids:    HGNC: 99651   Entrez Gene: 4732   Ensembl: ENSG000001425997   OMIM: 6052265   UniProtKB: Q9P2R63   

Export aliases for RERE gene to outside databases

Previous GC identifers: GC01M007994 GC01M008221 GC01M008122 GC01M008346 GC01M007562


(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 RERE Gene:
This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing
proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression
triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as
a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for RERE Gene:
RERE (arginine-glutamic acid dipeptide (RE) repeats) is a protein-coding gene. Diseases associated with RERE include dentatorubral-pallidoluysian atrophy, and mediastinitis. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTA3.

UniProtKB/Swiss-Prot: RERE_HUMAN, Q9P2R6
Function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell
survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3
activation, leading to cell death

Gene Wiki entry for RERE 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RERE gene promoter:
         STAT1   Pbx1a   FOXD3   AP-4   Evi-1   AREB6   CP2   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RERE promoter sequence
   Search Chromatin IP Primers for RERE

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


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

Entrez Gene cytogenetic band: 1p36.23   Ensembl cytogenetic band:  1p36.23   HGNC cytogenetic band: 1p36.23

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M008412:  view genomic region     (about GC identifiers)

Start:
8,412,457 bp from pter      End:
8,877,702 bp from pter
Size:
465,246 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RERE_HUMAN, Q9P2R6 (See protein sequence)
Recommended Name: Arginine-glutamic acid dipeptide repeats protein  
Size: 1566 amino acids; 172424 Da
Subunit: Interacts with HDAC1 (By similarity). Interacts with ATN1. Interaction with ATN1 is improved when the
poly-Gln region of ATN1 is extended. Interacts with FAT1
Sequence caution: Sequence=AAC31120.1; Type=Frameshift; Positions=588, 596; Sequence=AAD27584.1; Type=Erroneous
initiation;
1 PDB 3D structure from and Proteopedia for RERE:
2YQK (3D)    
Secondary accessions: O43393 O75046 O75359 Q5VXL9 Q6P6B9 Q9Y2W4
Alternative splicing: 2 isoforms:  Q9P2R6-1   Q9P2R6-2   

Explore the universe of human proteins at neXtProt for RERE: NX_Q9P2R6

Explore proteomics data for RERE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys378, Lys1324
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001036146.1  NP_001036147.1  NP_036234.3  

    ENSEMBL proteins: 
     ENSP00000338629   ENSP00000366684   ENSP00000383699   ENSP00000422246   ENSP00000383700  
     ENSP00000423451   ENSP00000465133   ENSP00000464847   ENSP00000464712   ENSP00000423259  
     ENSP00000465271  

    RERE Human Recombinant Protein Products:

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

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    RERE Assay Products:

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    Cloud-Clone Corp. CLIAs for RERE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GATAD: GATA zinc finger domain containing

    Selected InterPro protein domains (see all 7):
     IPR017884 SANT_dom
     IPR001005 SANT/Myb
     IPR001025 BAH_dom
     IPR000679 Znf_GATA
     IPR002951 Atrophin-like

    Graphical View of Domain Structure for InterPro Entry Q9P2R6

    ProtoNet protein and cluster: Q9P2R6

    3 Blocks protein domains:
    IPB000679 Zn-finger
    IPB001005 Myb DNA-binding domain
    IPB001025 Bromo adjacent region


    UniProtKB/Swiss-Prot: RERE_HUMAN, Q9P2R6
    Domain: The interaction with ATN1 is mediated by the coiled coil domain
    Similarity: Contains 1 BAH domain
    Similarity: Contains 1 ELM2 domain
    Similarity: Contains 1 GATA-type zinc finger
    Similarity: Contains 1 SANT domain


    RERE 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: RERE_HUMAN, Q9P2R6
    Function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell
    survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3
    activation, leading to cell death

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16713569
    GO:0008267poly-glutamine tract binding TAS10814707
         
    RERE for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rere):
     cardiovascular system  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  mortality/aging  nervous system  normal  renal/urinary system 
     vision/eye 

    RERE for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RERE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RERE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RERE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RERE

    miRNA
    Products:
        
    miRTarBase miRNAs that target RERE:
    hsa-mir-320a (MIRT044697), hsa-mir-301a-3p (MIRT044217), hsa-mir-92b-3p (MIRT040598), hsa-mir-429 (MIRT002988), hsa-mir-200b-3p (MIRT002987)

    Block miRNA regulation of human, mouse, rat RERE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RERE (see all 92):
    hsa-miR-411* hsa-miR-607 hsa-miR-3152-3p hsa-miR-128 hsa-miR-632 hsa-miR-1244 hsa-miR-629* hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidRERE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RERE
    Predesigned siRNA for gene silencing in human, mouse, rat RERE

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for RERE

    Clone
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    OriGene clones in human, mouse for RERE (see all 18)
    OriGene ORF clones in mouse, rat for RERE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): RERE (NM_001042682)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RERE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RERE

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RERE
    Browse ESI BIO Cell Lines and PureStem Progenitors for RERE 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RERE


    (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
    RERE_HUMAN, Q9P2R6: Nucleus. Note=Localized in nuclear bodies of variables size. Colocalized with PML and BAX in
    nuclear PODs
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex IEA--
    GO:0005634nucleus NAS10814707
    GO:0005739mitochondrion ----

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

        GeneGlobe Interaction Network for RERE

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

    Selected Interacting proteins for RERE (Q9P2R61, 2, 3 ENSP000003386294) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206376Q96KQ71, 2, 3EBI-948076,EBI-744366 MINT-6613677 MINT-6613596 MINT-6613530 I2D: score=2 
    ENSG00000232045Q96KQ71, 2, 3EBI-948076,EBI-744366 MINT-6613677 MINT-6613596 MINT-6613530 I2D: score=2 
    ENSG00000236759Q96KQ71, 2, 3EBI-948076,EBI-744366 MINT-6613677 MINT-6613596 MINT-6613530 I2D: score=2 
    ENSG00000238134Q96KQ71, 2, 3EBI-948076,EBI-744366 MINT-6613677 MINT-6613596 MINT-6613530 I2D: score=2 
    EHMT2Q96KQ71, 2, 3, ENSP000003646874EBI-948076,EBI-744366 MINT-6613677 MINT-6613596 MINT-6613530 I2D: score=2 STRING: ENSP00000364687
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338chromatin remodeling IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006607NLS-bearing protein import into nucleus TAS10814707
    GO:0007275multicellular organismal development IEA--

    RERE 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 RERE

    1 Novoseek inferred chemical compound relationship for RERE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 29.2 5 10814707 (4)



    RERE for compounds           About GeneDecksing



    (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 RERE gene (3 alternative transcripts): 
    NM_001042681.1  NM_001042682.1  NM_012102.3  

    Unigene Cluster for RERE:

    Arginine-glutamic acid dipeptide (RE) repeats
    Hs.463041  [show with all ESTs]
    Unigene Representative Sequence: NM_012102
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337907(uc001apd.3 uc001ape.3 uc001apf.3) ENST00000377464(uc010nzx.1)
    ENST00000467350 ENST00000400907 ENST00000476556 ENST00000400908 ENST00000505225
    ENST00000464367 ENST00000488215 ENST00000460659 ENST00000492766 ENST00000465125
    ENST00000464972 ENST00000480342(uc001aph.1) ENST00000507012 ENST00000469251
    ENST00000514428 ENST00000468247
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RERE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RERE (see all 92):
    hsa-miR-411* hsa-miR-607 hsa-miR-3152-3p hsa-miR-128 hsa-miR-632 hsa-miR-1244 hsa-miR-629* hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidRERE 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RERE
    Predesigned siRNA for gene silencing in human, mouse, rat RERE
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): RERE (NM_001042682)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RERE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RERE
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RERE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RERE
      QuantiTect SYBR Green Assays in human, mouse, rat RERE
      QuantiFast Probe-based Assays in human, mouse, rat RERE

    Additional mRNA sequence: 

    AB007927.2 AB036737.1 AF016005.1 AF118275.1 AK074834.1 AK096094.1 AL050176.1 BC009619.1 
    BC062342.1 

    23 DOTS entries:

    DT.100791085  DT.95250589  DT.92448690  DT.100791090  DT.100015497  DT.95340827  DT.440511  DT.100791081 
    DT.80100512  DT.91660374  DT.92448689  DT.100791089  DT.95340843  DT.97859695  DT.121454272  DT.75119822 
    DT.86853056  DT.92448681  DT.92448695  DT.95340826  DT.97766075  DT.100037227  DT.121454238 

    Selected AceView cDNA sequences (see all 450):

    H63996 BI757464 BU429485 BM696179 BU168687 AA907154 BX111794 AA133434 
    AI335621 AA810897 CD300775 AI633448 AA323480 CA313825 BF940452 BM314668 
    AI559592 BU169617 AW501189 AA741456 AI092868 BF034285 F04117 BG169579 

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

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

    RERE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463041

    UniProtKB/Swiss-Prot: RERE_HUMAN, Q9P2R6
    Tissue specificity: Widely expressed. Expressed in tumor cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RERE

    (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.

    Orthologs for RERE gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rere1 , 5 arginine glutamic acid dipeptide (RE) repeats1, 5 87.8(n)1
    94.51(a)1
      4 (81.34 cM)5
    687031  NM_001085492.11  NP_001078961.11 
     1502816465 
    chicken
    (Gallus gallus)
    Aves RERE1 arginine-glutamic acid dipeptide (RE) repeats 80.02(n)
    90.17(a)
      419435  XM_417594.4  XP_417594.3 
    lizard
    (Anolis carolinensis)
    Reptilia RERE6
    arginine-glutamic acid dipeptide (RE) repeats
    70(a)
    1 ↔ 1
    GL343334.1(322863-404811)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG816159.12   -- 80.65(n)    BG816159.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM071136.12   -- 82.25(n)    BM071136.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gug3 leg morphogenesis (sensu Holometabola)
    transcription more
    62(a)   3 66D1   --
    worm
    (Caenorhabditis elegans)
    Secernentea egl-273 Expression: all somatic cells, embryo,
    L1 larva, more
    32(a)   II(6834345-6836829)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RERE gene
    MTA32  MTA12  MTA22  ATN12  
    3 SIMAP similar genes for RERE using alignment to 8 protein entries:     RERE_HUMAN (see all proteins):
    MTA1    tmp_locus_6    ATN1

    RERE for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RERE
    PGOHUM00000246988 PGOHUM00000233884 PGOHUM00000234037


    (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 RERE (see all 8631)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159869981,2
    C,Funtested18418710(+) GGGTCG/AACGTT 6 /V syn12Minor allele frequency- A:0.02WA NA 3896
    rs1496438581,2
    --7634760(+) CCATTG/TATTGT 1 -- us2k10--------
    rs1450509351,2
    --8412020(+) GCTGGA/GTGGCT 3 -- ds50010--------
    rs740496121,2
    C,F--8412063(+) GGGGAG/AGCAGA 3 -- ds50012Minor allele frequency- A:0.10WA 120
    rs1848973471,2
    --8412089(+) AGGCCA/GCTAGG 3 -- ds50010--------
    rs1907363551,2
    --8412141(+) ACATGC/TCCATA 3 -- ds50010--------
    rs1816679241,2
    --8412220(+) TCCCAA/GTGCCA 3 -- ds50010--------
    rs1995364391,2
    C--8412324(+) TTCTG-/AAGC  
            
    AGCCA
    3 -- ds50010--------
    rs1868443101,2
    --8412363(+) GCAGGC/GAACAG 3 -- ds50010--------
    rs771563641,2
    F--8412396(+) CCCACC/GTGGGG 3 -- ds50011Minor allele frequency- G:0.03NA 120

    HapMap Linkage Disequilibrium report for RERE (8412457 - 8662457 bp, first 250kb of RERE)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RERE (see all 33):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743497CNV Deletion23290073
    esv2407042CNV Deletion18987734
    esv2743530CNV Deletion23290073
    esv2658508CNV Deletion23128226
    esv2674889CNV Deletion23128226
    esv2743519CNV Deletion23290073
    esv2743508CNV Deletion23290073
    esv2384996CNV Deletion18987734
    esv2743541CNV Deletion23290073
    esv2743552CNV Deletion23290073

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605226    OMIM disorders: --

    UniProtKB/Swiss-Prot: RERE_HUMAN, Q9P2R6
  • Note=A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation
    t(1;15)(p36.2;q24)

  • 14 diseases for RERE:    
    About MalaCards
    dentatorubral-pallidoluysian atrophy    mediastinitis    vitiligo    retinal degeneration
    esophageal squamous cell carcinoma    retinitis    squamous cell carcinoma    esophagitis
    ataxia    neuroblastoma    schizophrenia    leukemia
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for RERE:
    dentatorubral-pallidoluysian atrophy

    RERE for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RERE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    drpla 84.4 23 10814707 (5), 19006237 (1)

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

    Export disorders for RERE 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 RERE gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with RERE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. (PubMed id 10814707)1, 2, 3, 9 Yanagisawa H.... Yamada M. (Hum. Mol. Genet. 2000)
    2. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. (PubMed id 10729226)1, 2, 3 Amler L.C.... Hampton G.M. (Genomics 2000)
    3. Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells. (PubMed id 19131340)1, 2, 9 Hou R. and Sibinga N.E. (J. Biol. Chem. 2009)
    4. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    5. A genome-wide association study of optic disc parameters. (PubMed id 20548946)1, 4 Ramdas W.D....van Duijn C.M. (PLoS Genet. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (PubMed id 20410501)1, 4 Jin Y....Spritz R.A. (N. Engl. J. Med. 2010)
    8. High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. (PubMed id 18597038)1, 4 Zhang H....Devoto M. (Osteoporos Int 2009)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis. (PubMed id 11331249)1, 2 Waerner T.... Kraut N. (Cell Growth Differ. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 473 HGNC: 9965 AceView: RERE Ensembl:ENSG00000142599 euGenes: HUgn473
    ECgene: RERE H-InvDB: RERE

    (According to HUGE)
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    HUGE: KIAA0458

    (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 RERE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RERE Genetics and Cytogenetics in Oncology and Haematology

    (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 RERE gene:
    Search GeneIP for patents involving RERE

    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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