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ELP2 Gene

protein-coding   GIFtS: 57
GCID: GC18P033709

Elongator Acetyltransferase Complex Subunit 2

(Previous names: signal transducer and activator of transcription 3 interacting...)
(Previous symbol: STATIP1)
  See ELP2-related disease
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
Elongator Acetyltransferase Complex Subunit 21 2     Elongation Protein 2 Homolog2
STATIP11 2 3     Elongator Complex Protein 22
Signal Transducer And Activator Of Transcription 3 Interacting Protein 11 2     Elongator Protein 22
SHINC-22 3     Signal Transducer And Activator Of Transcription Interacting Protein 12
STAT3-Interacting Protein 12 3     stIP12
Elongation Protein 2 Homolog (S. Cerevisiae)1     StIP13
StIP2     

External Ids:    HGNC: 182481   Entrez Gene: 552502   Ensembl: ENSG000001347597   UniProtKB: Q6IA863   

Export aliases for ELP2 gene to outside databases

Previous GC identifers: GC18P033739 GC18P031964 GC18P030568


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ELP2 Gene:
ELP2 (elongator acetyltransferase complex subunit 2) is a protein-coding gene. Diseases associated with ELP2 include eastern equine encephalitis. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot: ELP2_HUMAN, Q6IA86
Function: Regulates the ligand-dependent activation of STAT3 (By similarity)
Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase
component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator
may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4

Gene Wiki entry for ELP2 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_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ELP2 gene promoter:
         NCX/Ncx   C/EBPalpha   GATA-1   Gfi-1   AREB6   CP2   FOXO4   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELP2 promoter sequence
   Search Chromatin IP Primers for ELP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ELP2


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

Entrez Gene cytogenetic band: 18q12.2   Ensembl cytogenetic band:  18q12.2   HGNC cytogenetic band: 18q12.1

ELP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELP2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P033709:  view genomic region     (about GC identifiers)

Start:
33,709,407 bp from pter      End:
33,757,909 bp from pter
Size:
48,503 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: ELP2_HUMAN, Q6IA86 (See protein sequence)
Recommended Name: Elongator complex protein 2  
Size: 826 amino acids; 92500 Da
Subunit: Interacts with STAT3 and JAKs (By similarity). Component of the RNA polymerase II elongator complex
(Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, and two yet unidentified proteins, p30 and
p38. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit
Secondary accessions: A8KAI6 B4DTG0 B4DXP0 E7EP23 E9PCX0 Q53GZ0 Q687Y8 Q8N5C2 Q96GV4 Q96PI7
Q9H9N0 Q9NV81
Alternative splicing: 7 isoforms:  Q6IA86-1   Q6IA86-2   Q6IA86-3   Q6IA86-4   Q6IA86-5   Q6IA86-6   Q6IA86-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ELP2: NX_Q6IA86

Explore proteomics data for ELP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys419, Lys459, Lys682
  • Modification sites at PhosphoSitePlus

  • See ELP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001229804.1  NP_001229805.1  NP_001229806.1  NP_001229807.1  NP_001229808.1  NP_060725.1  

    ENSEMBL proteins: 
     ENSP00000440426   ENSP00000350967   ENSP00000440516   ENSP00000257191   ENSP00000438533  
     ENSP00000414851   ENSP00000391202   ENSP00000443555   ENSP00000440774   ENSP00000316051  
     ENSP00000443800   ENSP00000468091   ENSP00000440651  
    Reactome Protein details: Q6IA86

    ELP2 Human Recombinant Protein Products:

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    Novus Biologicals ELP2 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ELP2

     
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    ELP2 Antibody Products:

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    ELP2 Assay Products:

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    Search eBioscience for ELISAs for ELP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ELP: Elongator acetyltransferase complex subunits
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q6IA86

    ProtoNet protein and cluster: Q6IA86

    UniProtKB/Swiss-Prot: ELP2_HUMAN, Q6IA86
    Similarity: Belongs to the WD repeat ELP2 family
    Similarity: Contains 14 WD repeats


    Find genes that share domains with ELP2           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: ELP2_HUMAN, Q6IA86
    Function: Regulates the ligand-dependent activation of STAT3 (By similarity)
    Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase
    component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator
    may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677contributes to DNA binding IDA11714725
    GO:0005515protein binding ----
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with ELP2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Elp2 (no phenotypes)

    Find genes that share phenotypes with ELP2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ELP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ELP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ELP2

    miRNA
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    miRTarBase miRNAs that target ELP2:
    hsa-mir-17-5p (MIRT050907), hsa-mir-124-3p (MIRT022867)

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    GenScript: all cDNA clones in your preferred vector: ELP2 (NM_018255)
    Sino Biological Human cDNA Clone for ELP2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELP2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ELP2_HUMAN, Q6IA86: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IC11714725
    GO:0005737cytoplasm NAS11714725
    GO:0008023transcription elongation factor complex IDA11714725
    GO:0016591DNA-directed RNA polymerase II, holoenzyme IC11714725
    GO:0033588Elongator holoenzyme complex IDA--

    Find genes that share ontologies with ELP2           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 ELP2 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34


    Find genes that share SuperPaths with ELP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ELP2
        JAK-STAT Pathway


    1 Reactome Pathway for ELP2
        HATs acetylate histones


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ELP2
    Interactions:

        Search GeneGlobe Interaction Network for ELP2

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

    Selected Interacting proteins for ELP2 (Q6IA863 ENSP000003509674) via UniProtKB, MINT, STRING, and/or I2D (see all 222)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS11714725
    GO:0006368transcription elongation from RNA polymerase II promoter IC11714725
    GO:0046425regulation of JAK-STAT cascade IEA--

    Find genes that share ontologies with ELP2           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 ELP2



    (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 ELP2 gene (6 alternative transcripts): 
    NM_001242875.1  NM_001242876.1  NM_001242877.1  NM_001242878.1  NM_001242879.1  NM_018255.2  

    Unigene Cluster for ELP2:

    Elongator acetyltransferase complex subunit 2
    Hs.8739  [show with all ESTs]
    Unigene Representative Sequence: NM_001242875
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000543127 ENST00000358232(uc002kzk.2 uc002kzl.2 uc002kzm.2 uc002kzn.2 uc002kzo.2)
    ENST00000544267 ENST00000351393 ENST00000541190 ENST00000545632 ENST00000442325(uc010xcg.2 uc010xch.2)
    ENST00000423854 ENST00000539560 ENST00000535488 ENST00000540135 ENST00000542430
    ENST00000350494 ENST00000542824 ENST00000540799 ENST00000543439 ENST00000540730
    ENST00000540323
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ELP2
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    GenScript: all cDNA clones in your preferred vector: ELP2 (NM_018255)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELP2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ELP2
      QuantiTect SYBR Green Assays in human, mouse, rat ELP2
      QuantiFast Probe-based Assays in human, mouse, rat ELP2

    Additional mRNA sequence: 

    AF332505.1 AF403223.1 AK001741.1 AK022709.1 AK222791.1 AK293051.1 AK300201.1 AK302062.1 
    BC007098.1 BC009211.2 BC032553.1 CR457269.1 NR_040110.1 

    Selected DOTS entries (see all 25):

    DT.86848188  DT.91757129  DT.415381  DT.97849981  DT.91908315  DT.97849985  DT.121088573  DT.425717 
    DT.97849982  DT.97849983  DT.100783688  DT.415384  DT.87015740  DT.100783686  DT.121088624  DT.121088697 
    DT.99965735  DT.121088627  DT.121088737  DT.95303579  DT.95303589  DT.97813350  DT.99983684  DT.121088582 

    Selected AceView cDNA sequences (see all 321):

    AI680161 Z43743 AA773533 BQ940035 BE740104 BQ217702 BM467463 Z39803 
    AA366999 NM_018255 BC009211 AA872046 BE879057 AA916068 BQ669977 AI675062 
    BM811310 AW991222 BM676415 AU280507 AI565120 BM450879 AA936121 BQ184416 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ELP2 (see all 20)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^
    SP1:                                      -     -     -                 -                 -                 -                                         -         
    SP2:                                      -     -     -                 -                 -                 -                                         -         
    SP3:                                      -     -     -                 -     -     -     -                 -                                         -         
    SP4:                                      -     -     -                 -     -     -     -     -     -     -     -     -                             -         
    SP5:        -     -     -                 -     -     -                 -                 -                 -                                                   

    ExUns: 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d
    SP1:                                -                                                           -                                             
    SP2:                                -                                                                                                         
    SP3:  -                             -                                                                                                         
    SP4:                                -                                                                                                         
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for ELP2

    (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)
    About This Section

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    ELP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACAGGTC
    ELP2 Expression
    About this image


    ELP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Primary Oocyte Primary Follicle
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Primary Oocyte Primary Follicle
    ELP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.8739
        Custom PCR Arrays for ELP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELP2

    (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 eukaryotes.

    Orthologs for ELP2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Elp21 , 5 elongation protein 2 homolog (S. cerevisiae)5
    elongator acetyltransferase complex subunit 21
    81.5(n)1
    79.76(a)1
      18 (13.18 cM)5
    585231  NM_021448.21  NP_067423.21 
     246039615 
    chicken
    (Gallus gallus)
    Aves ELP21 elongation protein 2 homolog (S. cerevisiae) 69.4(n)
    65.36(a)
      420980  XM_419067.4  XP_419067.4 
    lizard
    (Anolis carolinensis)
    Reptilia ELP26
    elongator acetyltransferase complex subunit 2
    57(a)
    1 ↔ 1
    4(67376341-67469228)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW641334.12   -- 77.71(n)    AW641334.1 
    zebrafish
    (Danio rerio)
    Actinopterygii elp21 elongation protein 2 homolog (S. cerevisiae) 61.04(n)
    58.25(a)
      560338  NM_001044925.1  NP_001038390.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118873
    Elp21
    Elongator complex protein 21 40(a)3
    50.9(n)1
    45.31(a)1
      361231  NM_136756.31  NP_610600.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y111B2A.173   -- 34(a)   III(12745328-12757810)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ELP2(YGR200C)4
    ELP21
    Subunit of Elongator complex, which is required for more4
    ELP21
    48.77(n)1
    36.28(a)1
      7(902270-899904)4
    8531141, 4  NP_011716.31  NP_011716.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ELP21 ELP2 49.21(n)
    39.5(a)
      841378  NM_001198251.1  NP_001185180.1 
    rice
    (Oryza sativa)
    Liliopsida Os.191792 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.16(n)    AK101284.1 


    ENSEMBL Gene Tree for ELP2 (if available)
    TreeFam Gene Tree for ELP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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 ELP2 (see all 997)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs588194791,2
    C--30576694(+) AAAAA-/AAA   
       
    /AAAA
    TTAAC
    13 -- int1 cds11NA 2
    rs748962451,2
    F--33711389(+) CCAGCG/ACCGTG 7 -- int11Minor allele frequency- A:0.06WA 118
    rs1468749581,2
    --33711466(+) GGGCGC/GCCATA 7 -- int10--------
    rs9484181,2
    C,F,H--33711524(+) ACCCTT/GTTAAA 7 -- int16Minor allele frequency- G:0.02NS EA WA 536
    rs753456531,2
    --33711570(+) TTGCCA/GGTCAA 7 -- int10--------
    rs745347941,2
    --33711575(+) AGTCAA/CCCCAC 7 -- int10--------
    rs17859031,2
    C,F,A,H--33711642(+) TTGCCG/CCTATA 7 -- int118Minor allele frequency- C:0.27EA NA NS WA CSA 910
    rs1176449081,2
    F--33711664(+) GATCTG/ACTTTT 7 -- int11Minor allele frequency- A:0.01NA 120
    rs728868801,2
    C,F--33711679(+) TGATTA/GTACTC 7 -- int12Minor allele frequency- G:0.15NA EA 240
    rs1383804881,2
    --33711887(+) TGCTGA/GTCGGG 7 -- int10--------

    HapMap Linkage Disequilibrium report for ELP2 (33709407 - 33757909 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ELP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526055CNV Loss19592680

    Human Gene Mutation Database (HGMD): ELP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ELP2
    DNA2.0 Custom Variant and Variant Library Synthesis for ELP2

    (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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    1 disease for ELP2:    
    About MalaCards
    eastern equine encephalitis

    1 disease from the University of Copenhagen DISEASES database for ELP2:
    Eastern equine encephalitis

    Find genes that share disorders with ELP2           About GenesLikeMe


    Export disorders for ELP2 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 ELP2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with ELP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification and characterization of the human elongator complex. (PubMed id 11714725)1, 2, 3 Hawkes N.A.... Svejstrup J.Q. (J. Biol. Chem. 2002)
    2. A Stat3-interacting protein (StIP1) regulates cytokine signal transduction. (PubMed id 10954736)1, 3, 9 Collum R.G....Schindler C. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Human Elongator facilitates RNA polymerase II transcription through chromatin. (PubMed id 11818576)1, 2 Kim J.H.... Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O.... Lill R. (Science 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (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: 55250 HGNC: 18248 AceView: STATIP1 Ensembl:ENSG00000134759 euGenes: HUgn55250
    ECgene: ELP2 H-InvDB: ELP2

    (According to HUGE)
    About This Section

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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 ELP2 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 ELP2 gene:
    Search GeneIP for patents involving ELP2

    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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