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RAI1 Gene

protein-coding   GIFtS: 54
GCID: GC17P017525

Retinoic Acid Induced 1

(Previous name: Smith-Magenis syndrome chromosome region)
(Previous symbol: SMCR)
  See RAI1-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
Retinoic Acid Induced 11 2
SMCR1 2 5
Smith-Magenis Syndrome Chromosome Region1 2
SMS2 5
Retinoic Acid-Induced Protein 12
KIAA18203

External Ids:    HGNC: 98341   Entrez Gene: 107432   Ensembl: ENSG000001085577   OMIM: 6076425   UniProtKB: Q7Z5J43   

Export aliases for RAI1 gene to outside databases

Previous GC identifers: GC17P017899 GC17P018957 GC17P017527 GC17P017785 GC17P017379


(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 RAI1 Gene:
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse
counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes
a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is
induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to
medication in schizophrenic patients. (provided by RefSeq, Jul 2008)

GeneCards Summary for RAI1 Gene:
RAI1 (retinoic acid induced 1) is a protein-coding gene. Diseases associated with RAI1 include 17p11.2 microduplication syndrome, and smith magenis syndrome. An important paralog of this gene is TCF20.

UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
Function: May function as a transcriptional regulator. Regulates transcription through chromatin remodeling by
interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be
important for embryonic and postnatal development. May be involved in neuronal differentiation (By similarity)




(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_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAI1 gene promoter:
         Pax-5   MAZR   SREBP-1a   SREBP-1c   NF-kappaB1   NF-kappaB   SREBP-1b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RAI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAI1


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

RAI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAI1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P017525:  view genomic region     (about GC identifiers)

Start:
17,584,787 bp from pter      End:
17,714,767 bp from pter
Size:
129,981 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: RAI1_HUMAN, Q7Z5J4 (See protein sequence)
Recommended Name: Retinoic acid-induced protein 1  
Size: 1906 amino acids; 203352 Da
Sequence caution: Sequence=BAB47449.1; Type=Erroneous initiation;
Secondary accessions: Q8N3B4 Q8ND08 Q8WU64 Q96JK5 Q9H1C1 Q9H1C2 Q9UF69
Alternative splicing: 4 isoforms:  Q7Z5J4-1   Q7Z5J4-2   Q7Z5J4-3   Q7Z5J4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAI1: NX_Q7Z5J4

Explore proteomics data for RAI1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RAI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_109590.3  
    ENSEMBL proteins: 
     ENSP00000323074   ENSP00000463607   ENSP00000379120   ENSP00000463984   ENSP00000261641  

    RAI1 Human Recombinant Protein Products:

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    Novus Biologicals RAI1 Protein
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    Cloud-Clone Corp. Proteins for RAI1

     
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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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    1 InterPro protein domain:
     IPR001965 Znf_PHD

    Graphical View of Domain Structure for InterPro Entry Q7Z5J4

    ProtoNet protein and cluster: Q7Z5J4

    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with RAI1           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: RAI1_HUMAN, Q7Z5J4
    Function: May function as a transcriptional regulator. Regulates transcription through chromatin remodeling by
    interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be
    important for embryonic and postnatal development. May be involved in neuronal differentiation (By similarity)

         Genatlas biochemistry entry for RAI1:
    retinoic acid induced gene 1,homolog of murine gene,expressed in brain,involved in the control of early neural
    differentiation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with RAI1           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rai1):
     adipose tissue  behavior/neurological  craniofacial  growth/size/body  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  respiratory system  skeleton 

    Find genes that share phenotypes with RAI1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rai1tm1Jrl for RAI1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RAI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAI1

    miRNA
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    miRTarBase miRNAs that target RAI1:
    hsa-mir-3687 (MIRT052878), hsa-let-7b-5p (MIRT052256), hsa-mir-504-5p (MIRT041078), hsa-mir-744-5p (MIRT037657), hsa-mir-769-3p (MIRT039088)

    Block miRNA regulation of human, mouse, rat RAI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAI1 (see all 42):
    hsa-miR-411* hsa-miR-379* hsa-miR-1197 hsa-miR-3141 hsa-let-7a-2* hsa-miR-374a hsa-miR-3138 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidRAI1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAI1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: RAI1 (NM_030665)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAI1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAI1


    (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
    RAI1_HUMAN, Q7Z5J4: Cytoplasm. Nucleus. Note=In neurons, localized to neurites (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with RAI1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAI1
    Interactions:

        Search GeneGlobe Interaction Network for RAI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for RAI1 (Q7Z5J42, 3 ENSP000003230744) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TESCQ96BS22, 3, ENSP000003763284MINT-66449 I2D: score=4 STRING: ENSP00000376328
    CASP2P425752, 3MINT-8250656 I2D: score=2 
    CDKN1AP389362, 3MINT-8252165 I2D: score=2 
    GADD45AP245222, 3MINT-8256015 I2D: score=2 
    GSK3BP498412, 3MINT-8257614 I2D: score=2 
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    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0040015negative regulation of multicellular organism growth IEA--

    Find genes that share ontologies with RAI1           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 RAI1

    2 Novoseek inferred chemical compound relationships for RAI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 67.8 14 16179224 (1), 15788730 (1), 17627554 (1), 15565467 (1) (see all 10)
    zinc 15.4 2 15565467 (1), 17041942 (1)



    Find genes that share compounds with RAI1           About GenesLikeMe



    (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 RAI1 gene: 
    NM_030665.3  

    Unigene Cluster for RAI1:

    Retinoic acid induced 1
    Hs.655395  [show with all ESTs]
    Unigene Representative Sequence: NM_030665
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353383(uc002grm.3 uc002grn.1) ENST00000489697 ENST00000471135
    ENST00000395774 ENST00000583166 ENST00000582514 ENST00000261641
    miRNA
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    Block miRNA regulation of human, mouse, rat RAI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAI1 (see all 42):
    hsa-miR-411* hsa-miR-379* hsa-miR-1197 hsa-miR-3141 hsa-let-7a-2* hsa-miR-374a hsa-miR-3138 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidRAI1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat RAI1
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    GenScript: all cDNA clones in your preferred vector: RAI1 (NM_030665)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAI1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RAI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAI1
      QuantiTect SYBR Green Assays in human, mouse, rat RAI1
      QuantiFast Probe-based Assays in human, mouse, rat RAI1

    Additional mRNA sequence: 

    AB058723.1 AL133649.1 AL834468.1 AL834486.1 AY172136.1 BC021209.2 

    8 DOTS entries:

    DT.100751743  DT.91770572  DT.75167709  DT.95208360  DT.97806938  DT.100777285  DT.65287940  DT.120990300 

    Selected AceView cDNA sequences (see all 109):

    BM127104 BM675388 AL834486 NM_030665 BM713809 AI870703 CA395169 AI926671 
    AJ271790 AW769036 AY172136 AI432478 BF872642 BQ187932 BF593068 BM982672 
    CA424292 CR590729 BI791916 AB058723 AI355795 BU189816 AL530927 AW769085 

    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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    RAI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCGCTTCTC
    RAI1 Expression
    About this image


    RAI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    RAI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655395

    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
    Tissue specificity: Expressed in all tissues examined with higher expression in the heart and brain. No expression
    was seen in the corpus callosum of the brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAI1

    (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 RAI1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rai11 , 5 retinoic acid induced 11, 5 82.74(n)1
    83.65(a)1
      11 (37.81 cM)5
    193771  NM_009021.21  NP_033047.21 
     601050135 
    chicken
    (Gallus gallus)
    Aves RAI11 retinoic acid induced 1 66.93(n)
    60.92(a)
      427664  XM_425237.4  XP_425237.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAI16
    retinoic acid induced 1
    45(a)
    1 ↔ 1
    GL343500.1(60011-65863)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rai11 retinoic acid induced 1 55.8(n)
    49.08(a)
      100487671  XM_004918072.1  XP_004918129.1 
    zebrafish
    (Danio rerio)
    Actinopterygii RAI16
    retinoic acid induced 1
    20(a)
    1 ↔ 1
    3(62695174-62701887) ENSDARG00000076679
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50986
    --
    13(a)
    1 → many
    2R(13982457-13988536)


    ENSEMBL Gene Tree for RAI1 (if available)
    TreeFam Gene Tree for RAI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAI1 gene
    TCF202  

    Find genes that share paralogs with RAI1           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    RAI1_HUMAN, Q7Z5J4: The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14. The size of the
    poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2)


    Selected SNPs for RAI1 (see all 2399)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048946341,2
    Cpathogenic117700947(+) ACGACA/GGCAGC 2 Q R mis10--------
    rs1048946331,2
    Cpathogenic117701685(+) GTGCAA/GCAAGG 2 N S mis10--------
    rs1466249311,2
    --17582857(+) GAGTCC/GGAGGC 1 -- us2k10--------
    rs1930521331,2
    --17582920(+) AACCCC/TGTCTC 1 -- us2k10--------
    rs1401925881,2
    C--17583001(+) CAGGAA/GAATTG 1 -- us2k10--------
    rs1845937551,2
    --17583068(+) GCAGGA/GCAACA 1 -- us2k10--------
    rs355739541,2
    C--17583127(+) AATAAA/CCCAGA 1 -- us2k10--------
    rs747207081,2
    C,F--17583217(+) ACATTC/TACCCT 1 -- us2k12Minor allele frequency- T:0.11WA 120
    rs1435388601,2
    --17583229(+) GGAGAC/TGGGTA 1 -- us2k10--------
    rs1885910821,2
    --17583321(+) CTCTGC/TGCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAI1 (17584787 - 17714767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RAI1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659754CNV Deletion23128226
    nsv907768CNV Loss21882294
    dgv3074n71CNV Loss21882294
    dgv3073n71CNV Loss21882294
    nsv833385CNV Loss17160897
    nsv820244CNV Loss19587683
    nsv907748CNV Loss21882294
    nsv817753CNV Loss17921354
    nsv907755CNV Loss21882294
    dgv3072n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): RAI1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing RAI1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing RAI1
    DNA2.0 Custom Variant and Variant Library Synthesis for RAI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607642   
    OMIM disorders: 182290  
    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
  • Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation associated with
    development and growth delays. Affected persons have characteristic behavioral abnormalities, including
    self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for RAI1:    
    About MalaCards
    17p11.2 microduplication syndrome    smith magenis syndrome

    2 diseases from the University of Copenhagen DISEASES database for RAI1:
    Intellectual disability     Autistic disorder

    Find genes that share disorders with RAI1           About GenesLikeMe

    4 Novoseek inferred disease relationships for RAI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-magenis syndrome 97 12 15788730 (1), 15690371 (1), 18231123 (1), 15565467 (1) (see all 9)
    anomaly congenital multiple 79.3 1 17431895 (1)
    mental retardation 73.1 5 19752160 (1), 17431895 (1), 18285828 (1)
    short stature 44.8 3 16845274 (1)

    GeneTests: RAI1
    GeneReviews: RAI1
    Genetic Association Database (GAD): RAI1
    Human Genome Epidemiology (HuGE) Navigator: RAI1 (5 documents)

    Export disorders for RAI1 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 RAI1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with RAI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1, 4 Do C.B....Eriksson N. (PLoS Genet. 2011)
    2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    3. Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer. (PubMed id 15885892)1, 4 Laska M.J....Vogel U. (Cancer Lett. 2005)
    4. 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)
    5. Mutations in RAI1 associated with Smith-Magenis syndrome. (PubMed id 12652298)1, 2 Slager R.E.... Elsea S.H. (Nat. Genet. 2003)
    6. Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. (PubMed id 12837267)1, 2 Toulouse A.... Rouleau G.A. (Genomics 2003)
    7. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    8. RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (PubMed id 11404004)1, 2 Seranski P.... Poustka A. (Gene 2001)
    9. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). (PubMed id 10915763)1, 2 Hayes S.... Rouleau G.A. (Hum. Mol. Genet. 2000)
    10. Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (PubMed id 10036180)1, 3 Seranski P....Poustka A. (Genomics 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    OMIM
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      (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: 10743 HGNC: 9834 AceView: RAI1 Ensembl:ENSG00000108557 euGenes: HUgn10743
    ECgene: RAI1 H-InvDB: RAI1

    (According to HUGE)
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    HUGE: KIAA1820

    (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 RAI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RAI1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAI1 gene:
    Search GeneIP for patents involving RAI1

    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
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