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

ENAH Gene

protein-coding   GIFtS: 61
GCID: GC01M225674

Enabled Homolog (Drosophila)

  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
Enabled Homolog (Drosophila)1 2
Mammalian Enabled1 2
MENA2 3
ENA2
NDPP12
Protein Enabled Homolog2

External Ids:    HGNC: 182711   Entrez Gene: 557402   Ensembl: ENSG000001543807   OMIM: 6090615   UniProtKB: Q8N8S73   

Export aliases for ENAH gene to outside databases

Previous GC identifers: GC01M224165 GC01M221499 GC01M222090 GC01M222657 GC01M222659 GC01M221989 GC01M223741 GC01M196193


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

GeneCards Summary for ENAH Gene: 
ENAH (enabled homolog (Drosophila)) is a protein-coding gene. Diseases associated with ENAH include esophageal squamous cell carcinoma, and esophagitis, and among its related super-pathways are Development Slit-Robo signaling and Regulation of actin cytoskeleton. GO annotations related to this gene include WW domain binding and actin binding. An important paralog of this gene is SPRED3.

UniProtKB/Swiss-Prot: ENAH_HUMAN, Q8N8S7
Function: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on
cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in
migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with
BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity)

Gene Wiki entry for ENAH 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_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ENAH gene promoter:
         NF-1   NF-1/L   AML1a   NRSF form 1   NRSF form 2   LCR-F1   AREB6   HSF2   Pax-4a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENAH promoter sequence
   Search SABiosciences Chromatin IP Primers for ENAH

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


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

Entrez Gene cytogenetic band: 1q42.12   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q32.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M225674:  view genomic region     (about GC identifiers)

Start:
225,674,534 bp from pter      End:
225,840,845 bp from pter
Size:
166,312 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: ENAH_HUMAN, Q8N8S7 (See protein sequence)
Recommended Name: Protein enabled homolog  
Size: 591 amino acids; 66510 Da
Subunit: Homotetramer (By similarity). Interacts with APBB1IP, APBB1, PFN1 and ROBO4. Isoforms, containing the
polyproline-rich regions with PPLP motifs, bind the WW domain of APBB1IP. Isoforms, containing the PPSY motif,
bind, in vitro, to the WW2 and WW3 domains of NEDD4 and to the WW1 domain of YAP1. Binds the SH3 domain of
BAIAP2-alpha but only after the autoinhibitory region of BAIAP2-alpha has been blocked by interaction with CDC42.
Interacts, via the EVH1/WH1 domain, with the Pro-rich domains from VCL, ZYX and Listeria monocytogenes actA and
with TES (via LIM domains). The TES LIM domain and the Pro-rich domains from VCL or ZYX compete for the same
binding site. Interaction with ZYX is important for targeting ENAH to focal adhesions and enhances production of
actin-rich structures at the apical surface of cells. Interacts, through the Pro-rich region, with the C-terminal
SH3 domain of DNMPB. Binds GPHN (By similarity). Interacts with FAT1 (via EVH1 domains) (By similarity).
Heterotrimer with TES and ACTL7A
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton (By similarity). Cell projection, lamellipodium (By
similarity). Cell projection, filopodium (By similarity). Cell junction, synapse (By similarity). Cell junction,
focal adhesion. Note=Targeted to the leading edge of lamellipodia and filopodia by MRL family members.
Colocalizes at filopodial tips with a number of other proteins including vinculin and zyxlin. Colocalizes with
N-WASP at the leading edge. Colocalizes with GPHN and PFN at synapses (By similarity)
Miscellaneous: Required to transform actin polymerization into active movement for the propulsive force of
Listeria monocytogenes (By similarity)
Sequence caution: Sequence=BAA91799.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC04736.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71475.1;
Type=Erroneous gene model prediction; Sequence=CAI22018.1; Type=Erroneous gene model prediction;
Sequence=CAI22020.1; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for ENAH:
2HO2 (3D)        2IYB (3D)        2XQN (3D)    
Secondary accessions: Q502W5 Q5T5M7 Q5VTQ9 Q5VTR0 Q9NVF3 Q9UFB8
Alternative splicing: 2 isoforms:  Q8N8S7-1   Q8N8S7-2   (Contains a phosphothreonine at position 502. Contains a phosphoserine at position 512)

Explore the universe of human proteins at neXtProt for ENAH: NX_Q8N8S7

Explore proteomics data for ENAH at MOPED 

Post-translational modifications:

  • UniProtKB: NTN1-induced PKA phosphorylation on Ser-265 directly parallels the formation of filopodial protrusions (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N8S7

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

    ENAH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001008493.1  NP_060682.2  

    ENSEMBL proteins: 
     ENSP00000355809   ENSP00000355808   ENSP00000284563  
    Reactome Protein details: Q8N8S7
    Human Recombinant Protein Products for ENAH: 
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    OriGene MassSpec for ENAH 
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    Novus Biologicals ENAH Protein
    Novus Biologicals ENAH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ENAH 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--
    GO:0005925focal adhesion IDA--

    ENAH for ontologies           About GeneDecksing



    ENAH Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ENAH
    R&D Systems Antibodies for ENAH (Mena)
    Cell Signaling Technology (CST) Antibodies for ENAH  (Mena)
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    OriGene Custom Antibody Services for ENAH
    GenScript Custom Superior Antibodies Services for ENAH
    Novus Biologicals ENAH Antibodies
    Abcam antibodies for ENAH
    Cloud-Clone Corp. Antibodies for ENAH 
    ThermoFisher Antibodies for ENAH
    LSBio Antibodies in human, mouse, rat for ENAH 

    Assay Products for ENAH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ENAH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ENAH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ENAH 
    Cloud-Clone Corp. CLIAs for ENAH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000156 Ran_bind_dom
     IPR014885 VASP_tetra
     IPR011993 PH_like_dom
     IPR000697 EVH1

    Graphical View of Domain Structure for InterPro Entry Q8N8S7

    ProtoNet protein and cluster: Q8N8S7

    UniProtKB/Swiss-Prot: ENAH_HUMAN, Q8N8S7
    Domain: The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding.
    The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is
    required for F-actin binding and subcellular location, and Block C for tetramerization
    Similarity: Belongs to the Ena/VASP family
    Similarity: Contains 1 WH1 domain


    ENAH 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: ENAH_HUMAN, Q8N8S7
    Function: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on
    cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in
    migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with
    BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI16979624
    GO:0017124SH3 domain binding IEA--
    GO:0050699WW domain binding IPI17686488
         
    ENAH for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ENAH:
     Decreased focal adhesion (FA)   G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Enah):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     homeostasis/metabolism  mortality/aging  nervous system 

    ENAH for phenotypes           About GeneDecksing

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

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

    miRNA
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    8/237 QIAGEN miScript miRNA Assays for microRNAs that regulate ENAH (see all 237):
    hsa-miR-100* hsa-miR-26a-2* hsa-miR-376b hsa-miR-4305 hsa-miR-128 hsa-miR-1260b hsa-miR-1245 hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ENAH (see all 12)
    OriGene ORF clones in mouse, rat for ENAH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ENAH (NM_018212)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENAH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAH
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                         Customized lentivirus expression plasmids for stable overexpression of ENAH 

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


    (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 ENAH About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Cytoskeleton remodeling Slit-Robo signaling0.92
    2Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    3Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    4Immune System
    Immune System0.56
    Adaptive Immune System0.56
    5TCR signaling
    TCR signaling0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ENAH
        Cytoskeleton remodeling Slit-Robo signaling

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ENAH
        Netrin Signaling
    Signaling by Slit

    2 Cell Signaling Technology (CST) Pathways for ENAH
        Neuroscience
    Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for ENAH
        Development Slit-Robo signaling

    4 BioSystems Pathways for ENAH
        Regulation of Actin Cytoskeleton
    CDC42 signaling events
    E-cadherin signaling in the nascent adherens junction
    Stabilization and expansion of the E-cadherin adherens junction

    5/7        Reactome Pathways for ENAH (see all 7)
        Developmental Biology
    Signaling by Robo receptor
    Adaptive Immune System
    TCR signaling
    Axon guidance


    1         Kegg Pathway  (Kegg details for ENAH):
        Regulation of actin cytoskeleton


    ENAH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ENAH

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

    5/831 Interacting proteins for ENAH (Q8N8S72, 3 ENSP000003558094) via UniProtKB, MINT, STRING, and/or I2D (see all 831)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAT1Q145172, 3, ENSP000004062294MINT-3370478 MINT-3370511 I2D: score=2 STRING: ENSP00000406229
    CHEK1O147572, 3MINT-7945693 MINT-7947479 I2D: score=3 
    APBB1IPQ7Z5R62, 3, ENSP000003654114MINT-7945693 I2D: score=1 STRING: ENSP00000365411
    PRPF40AO754002, 3MINT-7945693 I2D: score=1 
    SPTA1P025492, 3, ENSP000003571304MINT-7211734 I2D: score=2 STRING: ENSP00000357130
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0007411axon guidance TAS--
    GO:0008154actin polymerization or depolymerization IEA--
    GO:0030036actin cytoskeleton organization ----
    GO:0046907intracellular transport IEA--

    ENAH 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 ENAH

    Search CenterWatch for drugs/clinical trials and news about ENAH

    (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 ENAH gene (2 alternative transcripts): 
    NM_001008493.1  NM_018212.4  

    Unigene Cluster for ENAH:

    Enabled homolog (Drosophila)
    Hs.497893  [show with all ESTs]
    Unigene Representative Sequence: NM_001008493
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488523 ENST00000366844(uc001hpb.1 uc021pju.1 uc001hpc.1 uc001hpd.1)
    ENST00000358675 ENST00000366843 ENST00000284563 ENST00000498108 ENST00000483952
    ENST00000497899 ENST00000391874
    miRNA
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    hsa-miR-100* hsa-miR-26a-2* hsa-miR-376b hsa-miR-4305 hsa-miR-128 hsa-miR-1260b hsa-miR-1245 hsa-miR-138-2*
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAH

    Additional mRNA sequence: 

    AF519769.1 AK001635.1 AK025108.1 AK096246.1 AK290179.1 AL133059.1 AY345143.1 BC010414.2 
    BC037319.1 BC065238.1 BC095481.1 EU255274.1 

    23 DOTS entries:

    DT.453147  DT.99937561  DT.99963779  DT.100805979  DT.100784946  DT.91668648  DT.121348780  DT.100784952 
    DT.92441309  DT.100762854  DT.100784945  DT.121348838  DT.91896043  DT.121348775  DT.121348807  DT.121348845 
    DT.312200  DT.40209959  DT.75109500  DT.91879189  DT.95222942  DT.40267073  DT.97847181 

    24/496 AceView cDNA sequences (see all 496):

    F08624 AI494074 AA934123 BQ717087 AA927578 AA621893 AW304086 BM995124 
    BF445310 AK096246 AI089242 BU684097 BQ009946 AI674649 BM453652 AI087029 
    AI453066 AA404239 CA389540 AA040348 AU132639 AA401264 BQ086166 BG260305 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ENAH (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                                                                            -                     
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for ENAH

    (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

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


    ENAH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 23 entries
             Globus Pallidus
             Substantia Nigra   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.497893

    UniProtKB/Swiss-Prot: ENAH_HUMAN, Q8N8S7
    Tissue specificity: Expressed in myoepithelia of parotid, breast, bronchial glands and sweat glands. Expressed in
    colon-rectum muscolaris mucosae epithelium, pancreas acinar ductal epithelium, endometrium epithelium, prostate
    fibromuscolar stroma and placenta vascular media. Overexpressed in a majority of breast cancer cell lines and
    primary breast tumor lesions

        SABiosciences Expression via Pathway-Focused PCR Array including ENAH: 
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    (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 ENAH 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 Enah5 enabled homolog (Drosophila)   --   1 (84.93 cM) 181904445 
    chicken
    (Gallus gallus)
    Aves ENAH6
    protein enabled homolog
    80(a)
    1 ↔ 1
    3(16633670-16722683)
    lizard
    (Anolis carolinensis)
    Reptilia ENAH6
    enabled homolog (Drosophila)
    79(a)
    1 ↔ 1
    1(251856306-251944297)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU912927.12   -- 79.26(n)    BU912927.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vasp1 vasodilator-stimulated phosphoprotein 59.66(n)
    59.58(a)
      550487  NM_001017790.2  NP_001017790.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta ena1 enabled 46.49(n)
    38.23(a)
      37201  NM_001144237.1  NP_001137709.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-341 Protein UNC-34 45.04(n)
    34.35(a)
      190098  NM_070959.3  NP_503360.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENAH gene
    SPRED32  SPRED12  VASP2  EVL2  SPRED22  
    1 SIMAP similar gene for ENAH using alignment to 2 protein entries:     ENAH_HUMAN (see all proteins):
    EVL

    ENAH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ENAH
    PGOHUM00000238301


    (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

    10/2927 SNPs in ENAH are shown (see all 2927)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1143163921,2
    F--225674240(+) AGCTCG/ATTCAT 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs175006791,2
    C,F,H--225674255(+) CAACAG/AGCTGT 2 -- ds500120Minor allele frequency- A:0.03NA NS EA 2216
    rs727530251,2
    C,F--225674295(+) GGTCAC/TCAAGC 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1916119631,2
    --225674364(+) CCCTTA/GGTGAC 2 -- ds50010--------
    rs1855261551,2
    --225674480(+) CATGTC/TGTATA 2 -- ds50010--------
    rs1906786511,2
    --225674506(+) GAGCAA/GCTGGT 2 -- ds50010--------
    rs1814825481,2
    --225674509(+) CAACTG/TGTAAA 2 -- ds50010--------
    rs1444515701,2
    C--225674577(+) GGATAC/TCAAGA 2 -- ut310--------
    rs796255171,2
    C,F--225674654(+) TGATCC/TGATTT 2 -- ut311Minor allele frequency- T:0.02WA 118
    rs1853739121,2
    --225674670(+) ATGTGC/GCCACT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ENAH (225674534 - 225840845 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for ENAH (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2743164CNV Deletion23290073
    esv2743161CNV Deletion23290073
    esv2723894CNV Deletion23290073
    esv2723905CNV Deletion23290073
    esv2723872CNV Deletion23290073
    esv2660989CNV Deletion23128226
    esv1034120CNV Deletion17803354
    esv1963994CNV Deletion18987734
    esv2621711CNV Deletion19546169
    esv4193CNV Deletion18987735

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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: 609061    OMIM disorders: --

    9 diseases for ENAH:    About MalaCards
    esophageal squamous cell carcinoma    esophagitis    squamous cell carcinoma    pancreatic cancer
    pancreatitis    lung cancer    endotheliitis    breast cancer
    prostatitis


    ENAH for disorders           About GeneDecksing

    Genetic Association Database (GAD): ENAH
    Human Genome Epidemiology (HuGE) Navigator: ENAH (4 documents)

    Export disorders for ENAH 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 ENAH gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with ENAH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tes, a specific Mena interacting partner, breaks the rules for EVH1 binding. (PubMed id 18158903)1, 2, 9 Boeda B....Way M. (2007)
    2. A novel proline-rich motif present in ActA of Listeria monocytogenes and cytoskeletal proteins is the ligand for the EVH1 domain, a protein module present in the Ena/VASP family. (PubMed id 9312002)1, 2, 9 Niebuhr K.... Chakraborty T. (1997)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. The enabled homolog gene polymorphisms are associated with susceptibility and progression of childhood IgA nephropathy. (PubMed id 19641378)1, 4 Hahn W.H....Kim S.D. (2009)
    5. Structural basis for polyproline recognition by the FE65 WW domain. (PubMed id 17686488)1, 2 Meiyappan M.... Ladias J.A.A. (2007)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. RIAM, an Ena/VASP and profilin ligand, interacts with Rap1-GTP and mediates Rap1-induced adhesion. (PubMed id 15469846)1, 2 Lafuente E.M.... Boussiotis V.A. (2004)
    8. Human Mena protein, a serex-defined antigen overexpressed in breast cancer eliciting both humoral and CD8+ T-cell immune response. (PubMed id 15027125)1, 2 Di Modugno F.... Nistico P. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Lamellipodin, an Ena/VASP ligand, is implicated in the regulation of lamellipodial dynamics. (PubMed id 15469845)1, 2 Krause M.... Gertler F.B. (2004)

    (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: 55740 HGNC: 18271 AceView: ENAH Ensembl:ENSG00000154380 euGenes: HUgn55740
    ECgene: ENAH Kegg: 55740 H-InvDB: ENAH

    (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 ENAH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENAH 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 ENAH gene:
    Search GeneIP for patents involving ENAH

    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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