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

ENSA Gene

protein-coding   GIFtS: 58
GCID: GC01M150577

Endosulfine Alpha

  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
Endosulfine Alpha1 2
ARPP-19e2 3
alpha-endosulfine2

External Ids:    HGNC: 33601   Entrez Gene: 20292   Ensembl: ENSG000001434207   OMIM: 6030615   UniProtKB: O437683   

Export aliases for ENSA gene to outside databases

Previous GC identifers: GC01M148437 GC01M146342 GC01M147368 GC01M147811 GC01M147408 GC01M148840 GC01M148861 GC01M150574 GC01M121972


(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 ENSA Gene:
The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This
protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory
subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta
cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought
to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates
insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene
for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have
been observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for ENSA Gene: 
ENSA (endosulfine alpha) is a protein-coding gene. Diseases associated with ENSA include pancreatitis, and down syndrome, and among its related super-pathways are Mitotic M-M/G1 phases and Cell Cycle, Mitotic. GO annotations related to this gene include protein phosphatase type 2A regulator activity and receptor binding. An important paralog of this gene is ARPP19.

UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768
Function: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis.
When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its
activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M
phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor
(ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents

Gene Wiki entry for ENSA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ENSA gene promoter:
         HOXA9   HOXA9B   p53   AML1a   CP2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENSA promoter sequence
   Search SABiosciences Chromatin IP Primers for ENSA

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


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M150577:  view genomic region     (about GC identifiers)

Start:
150,573,327 bp from pter      End:
150,602,098 bp from pter
Size:
28,772 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: ENSA_HUMAN, O43768 (See protein sequence)
Recommended Name: Alpha-endosulfine  
Size: 121 amino acids; 13389 Da
Subunit: Interacts (when phosphorylated at Ser-67) with PPP2R2D (By similarity). Interacts with ABCC8. Interacts
with SNCA; interaction is disrupted when phosphorylated at Ser-109
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: A8K1Z9 E9PB69 Q5T5H2 Q68D48 Q6FHW0 Q6IAM4 Q6NUL2 Q6VUC6 Q6VUC7 Q6VUC8
Q6VUC9 Q6VUD0 Q6VUD1 Q9NRZ0
Alternative splicing: 9 isoforms:  O43768-1   O43768-2   O43768-3   O43768-4   O43768-5   O43768-6   O43768-7   O43768-8   
O43768-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENSA: NX_O43768

Explore proteomics data for ENSA at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-67 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and
    subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43768

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

    ENSA Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_004427.1  NP_996925.1  NP_996926.1  NP_996927.1  NP_996928.1  NP_996929.1  NP_996930.1  NP_997051.1  

    ENSEMBL proteins: 
     ENSP00000358012   ENSP00000358010   ENSP00000354835   ENSP00000355239   ENSP00000426110  
     ENSP00000341743   ENSP00000271690   ENSP00000348921   ENSP00000422343   ENSP00000421458  
     ENSP00000424242   ENSP00000355220   ENSP00000358005  
    Reactome Protein details: O43768
    Human Recombinant Protein Products for ENSA: 
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    Novus Biologicals ENSA Proteins
    Novus Biologicals ENSA Lysates
    Sino Biological Recombinant Protein for ENSA
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ENSA
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--

    ENSA for ontologies           About GeneDecksing



    ENSA Antibody Products: 
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    Assay Products for ENSA: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR006760 Endosulphine

    Graphical View of Domain Structure for InterPro Entry O43768

    ProtoNet protein and cluster: O43768

    1 Blocks protein domain: IPB006760 cAMP-regulated phosphoprotein/endosulfine conserved region

    UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768
    Similarity: Belongs to the endosulfine family


    ENSA 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: ENSA_HUMAN, O43768
    Function: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis.
    When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its
    activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M
    phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor
    (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents

         Genatlas biochemistry entry for ENSA:
    alpha endosulfine,endogenous regulator of the beta-cell K (ATP) channel,inhibiting sulfonylurea binding to beta
    cell membranes and stimulating insulin secretion

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004864protein phosphatase inhibitor activity IEA--
    GO:0005102receptor binding TAS9653196
    GO:0008200ion channel inhibitor activity TAS9653196
    GO:0008601protein phosphatase type 2A regulator activity ISS--
    GO:0019212phosphatase inhibitor activity ISS--
         
    ENSA for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ENSA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ENSA

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

    miRNA
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    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate ENSA (see all 31):
    hsa-miR-136 hsa-miR-331-3p hsa-miR-374a hsa-miR-486-3p hsa-miR-138-2* hsa-miR-410 hsa-miR-766 hsa-miR-103a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 8): ENSA (NM_207045)
    Sino Biological Human cDNA Clone for ENSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENSA
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                         Customized lentivirus expression plasmids for stable overexpression of ENSA 

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


    (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 ENSA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Mitotic Prophase0.70
    4DNA Damage
    Cell Cycle / Checkpoint Control0.32
    5ERK/MAPK targets
    MASTL Facilitates Mitotic Progression0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ENSA
        Cell Cycle / Checkpoint Control


    5/6        Reactome Pathways for ENSA (see all 6)
        Mitotic Prophase
    Cell Cycle
    M Phase
    MASTL Facilitates Mitotic Progression
    Mitotic M-M/G1 phases



    ENSA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/13 Interacting proteins for ENSA (O437681, 2, 3 ENSP000003417434) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARIH2O953762, 3MINT-63298 I2D: score=5 
    ENO2P091042, 3MINT-63435 I2D: score=4 
    KCTD15Q96SI12, 3MINT-65372 I2D: score=4 
    MCM3P252051, 3, ENSP000002298544EBI-714511,EBI-355153 I2D: score=2 STRING: ENSP00000229854
    ABCC8Q094283, ENSP000003744674I2D: score=2 STRING: ENSP00000374467
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle ISS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006810transport TAS9653196
    GO:0007067mitosis ISS--
    GO:0007584response to nutrient TAS9653196

    ENSA 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 ENSA

    Search CenterWatch for drugs/clinical trials and news about ENSA

    (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 ENSA gene (8 alternative transcripts): 
    NM_004436.2  NM_207042.1  NM_207043.1  NM_207044.1  NM_207045.1  NM_207046.1  NM_207047.1  NM_207168.1  

    Unigene Cluster for ENSA:

    Endosulfine alpha
    Hs.632456  [show with all ESTs]
    Unigene Representative Sequence: NM_207043
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369016 ENST00000369014(uc001evb.3 uc001evc.3 uc001evd.3 uc001eve.3)
    ENST00000361532 ENST00000361631 ENST00000509582 ENST00000339643 ENST00000271690(uc001evf.3 uc001evg.3 uc001evh.3)
    ENST00000356527(uc009wly.3) ENST00000513281 ENST00000505321 ENST00000503345
    ENST00000354702 ENST00000503241 ENST00000362052(uc001evi.3) ENST00000369009(uc009wlz.1)

    miRNA
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    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate ENSA (see all 31):
    hsa-miR-136 hsa-miR-331-3p hsa-miR-374a hsa-miR-486-3p hsa-miR-138-2* hsa-miR-410 hsa-miR-766 hsa-miR-103a
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): ENSA (NM_207045)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENSA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENSA

    Additional mRNA sequence: 

    AF067170.1 AF157509.1 AF157510.1 AK001981.1 AK290064.1 BC000436.2 BC004461.1 BC068544.1 
    BC069208.1 CR457130.1 CR536578.1 CR749580.1 X99906.1 

    24/34 DOTS entries (see all 34):

    DT.100742886  DT.100742910  DT.443946  DT.95277346  DT.102837884  DT.102837898  DT.102837897  DT.100742893 
    DT.100742888  DT.100742899  DT.312768  DT.99927234  DT.102837882  DT.101958053  DT.99926499  DT.100724588 
    DT.120787261  DT.95283642  DT.97760222  DT.100642581  DT.100847016  DT.100678349  DT.100860474  DT.121360926 

    24/766 AceView cDNA sequences (see all 766):

    T32493 BQ920079 NM_207045 AA320402 AI648398 W79109 AI625303 BX646321 
    BX402320 BX396484 AW338146 BQ898094 BM782631 BI905833 BM818376 BI335758 
    AA652319 AA953841 BU726992 BU622914 BG108282 BM807018 AW008563 AI658639 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for ENSA

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.632456

    UniProtKB/Swiss-Prot: ENSA_HUMAN, O43768
    Tissue specificity: Widely expressed with high levels in skeletal muscle and brain and lower levels in the
    pancreas

        SABiosciences Custom PCR Arrays for ENSA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENSA

    (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 ENSA gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ensa1 , 5 endosulfine alpha1, 5 96.14(n)1
    98.35(a)1
      3 (40.74 cM)5
    562051  NM_019561.21  NP_062507.11 
     956249805 
    chicken
    (Gallus gallus)
    Aves ENSA1 endosulfine alpha 80.37(n)
    89.72(a)
      425073  NM_001007965.1  NP_001007966.1 
    lizard
    (Anolis carolinensis)
    Reptilia ENSA6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343779.1(157796-166014)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685642 hypothetical protein MGC68564 79.61(n)    BC063723.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ensab1 endosulfine alpha b 73.51(n)
    83.04(a)
      100317933  XM_002664912.1  XP_002664958.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta endos6
    endosulfine
    41(a)
    1 → many
    3L(14022679-14024806)
    worm
    (Caenorhabditis elegans)
    Secernentea ensa-16
    Protein ENSA-1
    22(a)
    1 → many
    I(9850020-9851793)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENSA gene
    ARPP192  
    14 SIMAP similar genes for ENSA using alignment to 4 protein entries:     ENSA_HUMAN (see all proteins):
    NF2    AURA2    ZNF20    ZNF564    ARPP19    FAM175A
    LINC00596    TMEM14B    MYB    DNAPTP3    EIF3L    GLT8D2
    HMGA2    SH3PXD2A

    ENSA for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ENSA
    PGOHUM00000247876 PGOHUM00000247449 PGOHUM00000241105


    (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

    10/225 SNPs in ENSA are shown (see all 225)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406264411,2
    C--121974557(+) GATGC-/AGAGATT 7 -- int1 ut310--------
    rs748916201,2
    C--121974560(+) GCAGA-/GATTTCT 7 -- int1 ut310--------
    rs1909423151,2
    --157095612(+) GTAGCA/GGGTTT 4 -- ds50010--------
    rs1124077521,2
    C,F--157095635(+) ATTGGC/TACATC 4 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1154061071,2
    F--157095642(+) CATCAT/AGAGGA 4 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1475729561,2
    --157095927(+) TGGTTA/GCAGAA 4 -- ds50010--------
    rs10537011,2
    C,F,H--157096188(-) TGGGAG/AAAAGG 4 -- ut31 ese3 trp314Minor allele frequency- A:0.10MN NS EA NA 2014
    rs1419446961,2
    --157096253(+) AATGAA/TTAATG 4 -- ut310--------
    rs1469111211,2
    C--157096313(+) CTGTGA/CGGATG 4 -- ut310--------
    rs1867471741,2
    --157096314(+) TGTGCA/GGATGG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for ENSA (150573327 - 150602098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ENSA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv24209CNV Loss19812545


    Human Gene Mutation Database (HGMD): ENSA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ENSA
    DNA2.0 Custom Variant and Variant Library Synthesis for ENSA

    (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: 603061    OMIM disorders: --

    4 diseases for ENSA:    About MalaCards
    pancreatitis    down syndrome    gastric cancer    alzheimer's disease


    ENSA for disorders           About GeneDecksing

    Genetic Association Database (GAD): ENSA

    Export disorders for ENSA 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 ENSA gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with ENSA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha-endosulfine, a possible regulator of sulfonylurea- sensitive K(ATP) channel: molecular cloning, expression and biological properties. (PubMed id 9653196)1, 2, 3 Heron L.... Bataille D. (1998)
    2. The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. (PubMed id 14728987)1, 2, 9 Thameem F....Prochazka M. (2004)
    3. Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta- cell K(ATP) channels. (PubMed id 10480622)1, 2, 9 Heron L.... Bataille D. (1999)
    4. Membrane-induced folding of the cAMP-regulated phospho protein endosulfine-alpha. (PubMed id 18973346)1, 2 Boettcher J.M....Rienstra C.M. (2008)
    5. Conformation-specific binding of alpha-synuclein to no vel protein partners detected by phage display and NMR spectroscopy. (PubMed id 17893145)1, 2 Woods W.S....George J.M. (2007)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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. (2004)
    9. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. (PubMed id 23585552)1 Kirin M....Mitry D. (2013)
    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. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2029 HGNC: 3360 AceView: ENSA Ensembl:ENSG00000143420 euGenes: HUgn2029
    ECgene: ENSA H-InvDB: ENSA

    (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 ENSA Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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