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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AES Gene

protein-coding   GIFtS: 60
GCID: GC19M003003

Amino-Terminal Enhancer Of Split

  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)
About This Section

Aliases
Amino-Terminal Enhancer Of Split1 2     GRG52
Gp130-Associated Protein GAM2 3     TLE52
GRG2 3     Amino Enhancer Of Split3
AES-12     Protein ESP13
AES-22     Protein GRG3
ESP12     

External Ids:    HGNC: 3071   Entrez Gene: 1662   Ensembl: ENSG000001049647   OMIM: 6001885   UniProtKB: Q081173   

Export aliases for AES gene to outside databases

Previous GC identifers: GC19M003145 GC19M002992 GC19M002819


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AES Gene:
The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split
groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to
the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family
members to dominantly repress the expression of other family member genes. Three transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for AES Gene: 
AES (amino-terminal enhancer of split) is a protein-coding gene. Diseases associated with AES include autoimmune polyendocrine syndrome type 2, and autoimmune polyendocrine syndrome, and among its related super-pathways are Wnt signaling pathway. GO annotations related to this gene include protein binding and transcription corepressor activity. An important paralog of this gene is TLE3.

UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
Function: Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression.
May be required for the initiation and maintenance of the differentiated state




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AES gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAES promoter sequence
   Search SABiosciences Chromatin IP Primers for AES

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AES


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M003003:  view genomic region     (about GC identifiers)

Start:
3,052,908 bp from pter      End:
3,063,105 bp from pter
Size:
10,198 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AES_HUMAN, Q08117 (See protein sequence)
Recommended Name: Amino-terminal enhancer of split  
Size: 197 amino acids; 21970 Da
Subunit: Homooligomer and heterooligomer with other family members. Binds TCF7 (By similarity). Binds the
NF-kappa-B subunit RELA. Interacts with PHF12
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAC35517.1; Type=Erroneous initiation;
Secondary accessions: B2RBL0 Q12808 Q14CJ1 Q96TG9 Q9UDY9
Alternative splicing: 2 isoforms:  Q08117-1   Q08117-2   

Explore the universe of human proteins at neXtProt for AES: NX_Q08117

Explore proteomics data for AES at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by XIAP/BIRC4
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08117

  • AES Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AES Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001121.2  NP_945320.1  NP_945321.1  

    ENSEMBL proteins: 
     ENSP00000221561   ENSP00000466038   ENSP00000317537   ENSP00000467831   ENSP00000466179  

    Human Recombinant Protein Products for AES: 
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    OriGene Purified Protein for AES
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    OriGene MassSpec for AES 
    OriGene Custom Protein Services for AES
    GenScript Custom Purified and Recombinant Proteins Services for AES
    Novus Biologicals AES Proteins
    Novus Biologicals AES Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for AES
    Cloud-Clone Corp. Proteins for AES 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    AES for ontologies           About GeneDecksing



    AES Antibody Products: 
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    Abcam antibodies for AES
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    ThermoFisher Antibodies for AES
    LSBio Antibodies in human, mouse, rat for AES 

    Assay Products for AES: 
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    Cloud-Clone Corp. ELISAs for AES 
    Cloud-Clone Corp. CLIAs for AES


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005617 Groucho/TLE_N

    Graphical View of Domain Structure for InterPro Entry Q08117

    ProtoNet protein and cluster: Q08117

    UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
    Domain: Lacks the C-terminal WD repeats
    Similarity: Belongs to the WD repeat Groucho/TLE family


    AES 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AES_HUMAN, Q08117
    Function: Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression.
    May be required for the initiation and maintenance of the differentiated state

         Genatlas biochemistry entry for AES:
    amino-terminal enhancer of split,homologous to Drosophila ESG enhancer of split Groucho,mainly expressed in
    muscle,heart,brain

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IPI10660609
    GO:0005515protein binding IPI11390640
         
    AES for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AES:
     Decreased Salmonella enterica  

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aes):
     behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size  mortality/aging 
     nervous system  reproductive system  skeleton  tumorigenesis 

    AES for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aestm1Grid for AES

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AES 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AES

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AES
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate AES (see all 9):
    hsa-miR-3120-3p hsa-miR-609 hsa-miR-548aa hsa-miR-3179 hsa-miR-124 hsa-miR-3202 hsa-miR-889 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidAES 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AES
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AES

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for AES
    Sirion Biotech Customized adenovirus for overexpression of AES

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AES (see all 17)
    OriGene ORF clones in mouse, rat for AES
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AES (NM_001130)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AES
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AES
    Sirion Biotech Customized lentivirus for stable overexpression of AES 
                         Customized lentivirus expression plasmids for stable overexpression of AES 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AES
    Search LifeMap BioReagents cell lines for AES
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AES


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AES About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway
    Wnt Signaling Pathway0.40
    2Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    3Presenilin action in Notch and Wnt signaling
    Presenilin action in Notch and Wnt signaling
    4Androgen receptor signaling pathway
    Androgen receptor signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for AES
        Wnt Signaling Pathway


    3 BioSystems Pathways for AES
        Androgen receptor signaling pathway
    Presenilin action in Notch and Wnt signaling
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AES

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

    5/45 Interacting proteins for AES (Q081171, 2, 3 ENSP000002215614) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCL7P800982, 3, ENSP000002003074MINT-64064 I2D: score=3 STRING: ENSP00000200307
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2856886 I2D: score=2 STRING: ENSP00000344782
    MED31Q9Y3C72, 3MINT-64067 I2D: score=4 
    SH3GL3Q999632, 3MINT-64066 I2D: score=4 
    RPL18AQ025432, 3MINT-64065 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP10660609
    GO:0001501skeletal system development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007275multicellular organismal development TAS8365415

    AES for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AES

    Search CenterWatch for drugs/clinical trials and news about AES

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AES gene (3 alternative transcripts): 
    NM_001130.5  NM_198969.1  NM_198970.1  

    Unigene Cluster for AES:

    Amino-terminal enhancer of split
    Hs.515053  [show with all ESTs]
    Unigene Representative Sequence: AK095154
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592414 ENST00000221561(uc002lxb.1) ENST00000586742 ENST00000327141(uc002lwx.1 uc002lwy.1 uc002lwz.1)
    ENST00000587393 ENST00000592330 ENST00000590067 ENST00000586839 ENST00000585557
    ENST00000587083 ENST00000585782 ENST00000586003
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AES
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate AES (see all 9):
    hsa-miR-3120-3p hsa-miR-609 hsa-miR-548aa hsa-miR-3179 hsa-miR-124 hsa-miR-3202 hsa-miR-889 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidAES 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AES
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AES
    Clone
    Products:
         
    OriGene clones in human, mouse for AES (see all 17)
    OriGene ORF clones in mouse, rat for AES
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AES (NM_001130)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AES
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AES
    Sirion Biotech Customized lentivirus for stable overexpression of AES 
                         Customized lentivirus expression plasmids for stable overexpression of AES 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AES
    OriGene qSTAR qPCR primer pairs in human, mouse for AES
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AES
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AES
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AES

    Additional mRNA sequence: 

    AF072902.1 AF269289.1 AK094591.1 AK095154.1 AK314713.1 BC113735.1 BC113737.1 U04241.1 
    X73357.1 X73358.1 

    24/42 DOTS entries (see all 42):

    DT.95176523  DT.100045190  DT.100858154  DT.91821772  DT.100808380  DT.121500399  DT.121500449  DT.87017800 
    DT.92460433  DT.100858157  DT.121500435  DT.100858140  DT.97863603  DT.100858142  DT.100858148  DT.121500452 
    DT.100858151  DT.91900598  DT.92375835  DT.95277120  DT.100045184  DT.100858139  DT.95277118  DT.97858075 

    24/995 AceView cDNA sequences (see all 995):

    AI383154 BQ430553 AW264357 BM819954 BM563578 BM511614 CR594475 AW300896 
    CF453580 AJ709153 BQ951209 AW182274 BM456756 R33849 BI914591 AW071845 
    BM557831 AW849282 NM_198969 BE222920 BF869964 CR594247 BQ890337 CR591743 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AES (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
    SP1:                          -     -     -     -           -           -     -     -           -           -                           
    SP2:                    -     -     -     -     -           -           -     -     -           -           -                           
    SP3:                                      -     -           -           -     -     -           -           -                           
    SP4:                                      -     -           -                 -     -           -           -                           
    SP5:                          -     -     -     -           -           -     -     -           -           -                           


    ECgene alternative splicing isoforms for AES

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    AES expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
             heart/ventricle   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See AES Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AES

    SOURCE GeneReport for Unigene cluster: Hs.515053

    UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
    Tissue specificity: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in
    the heart, lung, kidney, brain and liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including AES: 
              WNT Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AES
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AES

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AES gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aes1 , 5 amino-terminal enhancer of split1, 5 86.35(n)1
    99.47(a)1
      10 (39.72 cM)5
    147971  NM_010347.31  NP_034477.11 
     815595605 
    chicken
    (Gallus gallus)
    Aves LOC1008585421 amino-terminal enhancer of split-like 83.23(n)
    97.42(a)
      100858542  XM_003642848.1  XP_003642896.1 
    lizard
    (Anolis carolinensis)
    Reptilia TLE26
    Uncharacterized protein

    possible ortholog
    GL344313.1(393-19087)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684322 hypothetical protein MGC68432 76.34(n)    BC060746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC054644.12   -- 79.53(n)   393395  BC054644.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gro6
    groucho
    12(a)
    1 → many
    3R(21867432-21875633)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-376
    Transcription factor unc-37
    2(a)
    1 → many
    I(6742293-6745341)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AES gene
    TLE32  TLE62  TLE22  TLE42  TLE12  
    4 SIMAP similar genes for AES using alignment to 4 protein entries:     AES_HUMAN (see all proteins):
    TLE2    TLE4    TLE3    TLE1

    AES 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/286 SNPs in AES are shown (see all 286)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1880704901,2
    --3052432(+) CCTCCC/TGGGTT 3 -- ds50010--------
    rs1385134301,2
    C--3052500(+) ATGCCC/TGGCTA 3 -- ds50010--------
    rs347563881,2
    C--3052515(+) TTTTT-/TGAGAT 3 -- ds50011Minor allele frequency- T:0.00NA 2
    rs4510861,2
    C,F,A,H--3052630(+) GCCTCT/CTAAGT 3 -- ds50017Minor allele frequency- C:0.17NA WA EA 366
    rs1913682761,2
    C--3052725(+) GTCTCA/GAACTC 3 -- ds50010--------
    rs358801721,2
    C--3052857(+) AGGAA-/CCCCGT 3 -- ds50012Minor allele frequency- C:0.25NA CSA 4
    rs1420346451,2
    --3052871(+) CCCCCA/GGGGGC 3 -- ds50010--------
    rs674117191,2
    C--3052907(+) AGCACC/TGAAGC 3 -- ds50014Minor allele frequency- T:0.09NA WA 242
    rs1180302531,2
    C,F--3053003(+) AACACG/AAGATA 3 -- ut311Minor allele frequency- A:0.02NA 120
    rs10626351,2
    C,A--3053066(-) AAAAAG/AACAAA 3 -- ut311Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for AES (3052908 - 3063105 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AES:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910702CNV Loss21882294
    nsv833709CNV Loss17160897
    nsv910700CNV Loss21882294
    nsv910695CNV Loss21882294
    nsv910694CNV Loss21882294
    dgv3644n71CNV Loss21882294
    nsv910703CNV Loss21882294
    dgv47n68CNV Loss17160897
    nsv910697CNV Loss21882294

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    (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.)
    About This Section
    OMIM gene information: 600188    OMIM disorders: --

    5 diseases for AES:    About MalaCards
    autoimmune polyendocrine syndrome type 2    autoimmune polyendocrine syndrome    cystic fibrosis    hepatitis
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for AES:
    Autoimmune polyendocrine syndrome type 2     Cystic fibrosis

    AES for disorders           About GeneDecksing


    Export disorders for AES 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)
    About This Section

    PubMed articles for AES gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with AES)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of mouse and human cDNA encoding AES and ESG proteins with strong similarity to Drosophila enhancer of split groucho protein. (PubMed id 8365415)1, 2, 3, 9 Miyasaka H.... Li S.S.-L. (1993)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    4. Pf1, a novel PHD zinc finger protein that links the TLE corepressor to the mSin3A-histone deacetylase complex. (PubMed id 11390640)1, 2 Yochum G.S. and Ayer D.E. (2001)
    5. Inhibition of nuclear factor-kappaB-mediated transcription by association with the amino-terminal enhancer of split, a Groucho- related protein lacking WD40 repeats. (PubMed id 10660609)1, 2 Tetsuka T.... Okamoto T. (2000)
    6. Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta. (PubMed id 10748198)1, 2 Wang J.-C....Granner D.K. (2000)
    7. Genomic organization and chromosome localization to band 19p13.3 of the human AES gene: gene product exhibits strong similarity to the N- terminal domain of Drosophila enhancer of split Groucho protein. (PubMed id 9809752)1, 2 Hou E.W. and Li S.S.-L. (1998)
    8. The Groucho-related gene family regulates the gonadotropin-releasing hormone gene through interaction with the homeodomain proteins MSX1 and OCT1. (PubMed id 16002402)1, 9 Rave-Harel N....Mellon P.L. (2005)
    9. All Tcf HMG box transcription factors interact with Groucho-related co-repressors. (PubMed id 11266540)1, 9 Brantjes H.... Clevers H. (2001)
    10. Transducin-like enhancer of Split-1 (TLE1) combines wi th Forkhead box protein G1 (FoxG1) to promote neuronal survival. (PubMed id 22354967)1 Dastidar S.G....D'Mello S.R. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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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)
    About This Section
    Entrez Gene: 166 HGNC: 307 AceView: AES Ensembl:ENSG00000104964 euGenes: HUgn166
    ECgene: AES H-InvDB: AES

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AES Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AES 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
    Patent Information for AES gene:
    Search GeneIP for patents involving AES

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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