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HEYL Gene

protein-coding   GIFtS: 58
GCID: GC01M040119

Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like

(Previous name: hairy/enhancer-of-split related with YRPW motif-like)
  See related diseases
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Aliases
for HEYL gene

(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
Hes-Related Family BHLH Transcription Factor With YRPW Motif-Like1 2     hHeyL2 3
Hairy/Enhancer-Of-Split Related With YRPW Motif 31 2     Hairy/Enhancer-Of-Split Related With YRPW Motif-Like1
Class B Basic Helix-Loop-Helix Protein 332 3     HESR32
Hairy-Related Transcription Factor 32 3     HEY32
HRT-32 3     Hairy/Enhancer-Of-Split Related With YRPW Motif-Like Protein2
HRT32 3     HEY-Like Protein2
bHLHb332 3     BHLHB333
hHRT32 3     

External Ids:    HGNC: 48821   Entrez Gene: 265082   Ensembl: ENSG000001639097   OMIM: 6090345   UniProtKB: Q9NQ873   

Export aliases for HEYL gene to outside databases

Previous GC identifers: GC01M039093 GC01M039553 GC01M039503 GC01M039492 GC01M039741 GC01M039862 GC01M038207


Summaries
for HEYL gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HEYL Gene:
This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix
(bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange
domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch
signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but
their biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for HEYL Gene:
HEYL (hes-related family bHLH transcription factor with YRPW motif-like) is a protein-coding gene. Diseases associated with HEYL include glaucoma, and neuronitis. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HEY1.

UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87
Function: Downstream effector of Notch signaling which may be required for cardiovascular development (By
similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'
(By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6

Gene Wiki entry for HEYL Gene


Genomic Views
for HEYL 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEYL gene promoter:
         SRF   Tal-1   SRF (504 AA)   Tal-1beta   LCR-F1   E47   AREB6   CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HEYL promoter sequence
   Search Chromatin IP Primers for HEYL

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


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

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M040119:  view genomic region     (about GC identifiers)

Start:
 40,089,103 bp from pter      End:
 40,105,617 bp from pter
Size:
 16,515 bases      Orientation:
 minus strand

Proteins
for HEYL gene

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87 (See protein sequence)
Recommended Name: Hairy/enhancer-of-split related with YRPW motif-like protein  
Size: 328 amino acids; 35087 Da
Subunit: Self-associates (By similarity). Interacts with GATA4, GATA6, HES1, HEY1 and HEY2 (By similarity).
Interacts with HDAC1, NCOR1 and SIN3A (By similarity)
Secondary accessions: Q5TG99

Explore the universe of human proteins at neXtProt for HEYL: NX_Q9NQ87

Explore proteomics data for HEYL at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_055386.1  
    ENSEMBL proteins: 
     ENSP00000361943   ENSP00000439071  
    Reactome Protein details: Q9NQ87

    HEYL Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for HEYL
    OriGene Custom MassSpec
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    Novus Biologicals HEYL Proteins
    Novus Biologicals HEYL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HEYL

    HEYL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HEYL
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    Novus Biologicals HEYL Antibodies
    Abcam antibodies for HEYL
    Cloud-Clone Corp. Antibodies for HEYL
    ThermoFisher Antibodies for HEYL
    LSBio Antibodies in human, mouse, rat for HEYL

    HEYL Assay Products:

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

    Domains /
    Families
    for HEYL gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    3 InterPro protein domains:
     IPR018352 Orange_subgr
     IPR003650 Orange
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9NQ87

    ProtoNet protein and cluster: Q9NQ87

    2 Blocks protein domains:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB003650 Orange


    UniProtKB/Swiss-Prot: HEYL_HUMAN, Q9NQ87
    Similarity: Belongs to the HEY family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    HEYL for domains           About GeneDecksing


    Function
    for HEYL gene

    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEYL_HUMAN, Q9NQ87
    Function: Downstream effector of Notch signaling which may be required for cardiovascular development (By
    similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'
    (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6
    Induction: By activation of the Notch signaling pathway

         Gene Ontology (GO): 16 molecular function terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS--
    GO:0000988protein binding transcription factor activity IDA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001106RNA polymerase II transcription corepressor activity IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15485867
    GO:0003714transcription corepressor activity IDA--
    GO:0005515protein binding IPI15485867
    GO:0008134transcription factor binding NAS17611704
    GO:0035939microsatellite binding IDA--
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding ----
    GO:0046982protein heterodimerization activity IDA--
    GO:0046983protein dimerization activity ----
    GO:0050683AF-1 domain binding IPI--
         
    HEYL for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Heyl):
     cardiovascular system  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  no phenotypic analysis  normal 

    HEYL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HEYL: Heyltm1.2Abmu Heyltm1Kkb

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

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

    miRNA
    Products:            		miRTarBase miRNAs that target HEYL:
    hsa-mir-93-3p (MIRT038777)

    Block miRNA regulation of human, mouse, rat HEYL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEYL (see all 34):
    hsa-miR-330-5p hsa-miR-29a hsa-miR-765 hsa-miR-3921 hsa-miR-4314 hsa-miR-1276 hsa-miR-4274 hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for HEYL
    Predesigned siRNA for gene silencing in human, mouse, rat HEYL

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HEYL

    Clone
    Products:             		 OriGene clones in human, mouse for HEYL (see all 6)
    OriGene ORF clones in mouse, rat for HEYL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEYL (NM_014571)
    Sino Biological Human cDNA Clone for HEYL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEYL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEYL

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HEYL
    ESI BIO PureStem Progenitor for HEYL: 
    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEYL


    Localization
    for HEYL gene

    (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
    HEYL_HUMAN, Q9NQ87: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ISS--

    HEYL for ontologies           About GeneDecksing


    Pathways & Interactions
    for HEYL gene

    (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 HEYL About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    		Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    		Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    		Signaling by NOTCH1 in Cancer0.79
    		FBXW7 Mutants and NOTCH1 in Cancer0.79
    		Signaling by NOTCH10.79
    		NOTCH1 Intracellular Domain Regulates Transcription0.68
    2Signaling by GPCR
    		Signal Transduction0.58
    3Disease
    		Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for HEYL
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Constitutive Signaling by NOTCH1 PEST Domain Mutants



    HEYL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEYL: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HEYL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for HEYL (Q9NQ872, 3 ENSP000003619434) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-68017 I2D: score=5 STRING: ENSP00000340176
    SMAD3P840222, 3, ENSP000003329734MINT-61698 I2D: score=3 STRING: ENSP00000332973
    SMAD7O151052, 3, ENSP000002621584MINT-61810 I2D: score=3 STRING: ENSP00000262158
    ATF7IPQ6VMQ62, 3MINT-61887 I2D: score=3 
    LAPTM5Q135712, 3MINT-62169 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0003151outflow tract morphogenesis ISS--
    GO:0003181atrioventricular valve morphogenesis ISS--
    GO:0003184pulmonary valve morphogenesis ISS--
    GO:0003198epithelial to mesenchymal transition involved in endocardial cushion formation ISS--

    HEYL for ontologies           About GeneDecksing



    Drugs & Compounds
    for HEYL gene

    (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 HEYL



    Transcripts
    for HEYL gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HEYL gene: 
    NM_014571.3  

    Unigene Cluster for HEYL:

    Hairy/enhancer-of-split related with YRPW motif-like
    Hs.472566  [show with all ESTs]
    Unigene Representative Sequence: NM_014571
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372852(uc010oiw.2 uc001cdp.3) ENST00000535435
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat HEYL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEYL (see all 34):
    hsa-miR-330-5p hsa-miR-29a hsa-miR-765 hsa-miR-3921 hsa-miR-4314 hsa-miR-1276 hsa-miR-4274 hsa-miR-508-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for HEYL
    Predesigned siRNA for gene silencing in human, mouse, rat HEYL
    Clone
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    OriGene ORF clones in mouse, rat for HEYL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEYL (NM_014571)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEYL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEYL
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for HEYL
    OriGene qSTAR qPCR primer pairs in human, mouse for HEYL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEYL
      QuantiTect SYBR Green Assays in human, mouse, rat HEYL
      QuantiFast Probe-based Assays in human, mouse, rat HEYL

    Additional mRNA sequence: 

    AF311885.1 AJ272215.1 AK300463.1 BC006087.1 

    6 DOTS entries:

    DT.410891  DT.121407082  DT.100710319  DT.100732082  DT.100751632  DT.92450621 

    Selected AceView cDNA sequences (see all 139):

    AI674102 AA935671 AA009821 AA916553 AI570320 BM693247 AL040198 BQ027529 
    CK819944 BU785900 AA973148 AJ272215 CD518041 CD246075 AA453276 NM_014571 
    AI417209 BE205999 AA969508 R74338 BM354043 BC006087 BF435697 AA861456 

    GeneLoc Exon Structure


    Expression
    for HEYL gene

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


    HEYL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Bone Marrow
             TGFbeta3+BMP7-induced chondrocytes
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Hair (Integumentary System)    fully expand to see all 5 entries
             Fetal Medulla Cells Hair Shaft
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephros
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             TGFbeta3+BMP7-induced chondrocytes
    HEYL Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    HEYL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.472566
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEYL: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
    Products:    		OriGene qPCR primer pairs and template standards for HEYL
    OriGene qSTAR qPCR primer pairs in human, mouse for HEYL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEYL
    QuantiTect SYBR Green Assays in human, mouse, rat HEYL
    QuantiFast Probe-based Assays in human, mouse, rat HEYL
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEYL

    Orthologs
    for HEYL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HEYL gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Heyl1 , 5 hairy/enhancer-of-split related with YRPW motif-like1, 5 82(n)1
    78.53(a)1    		   4 (57.41 cM)5
    561981  NM_013905.31  NP_038933.21 
     1232335565 
    chicken
    (Gallus gallus)    		 Aves HEYL1 hairy/enhancer-of-split related with YRPW motif-like 66.88(n)
    63.55(a)    		   771101  XM_001234405.3  XP_001234406.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii heyl1 hairy/enhancer-of-split related with YRPW motif-like 59.13(n)
    58.7(a)    		   335134  NM_181736.1  NP_859425.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Hey3 transcription factor 57(a)   44A2   --


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

    Paralogs
    for HEYL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEYL gene
    HEY12  HELT2  HEY22  
    6 SIMAP similar genes for HEYL using alignment to 2 protein entries:     HEYL_HUMAN (see all proteins):
    HEY1    OAF1    HEY2    HES4    HES5    HELT

    HEYL for paralogs           About GeneDecksing



    Genomic Variants
    for HEYL gene

    (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 HEYL (see all 355)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs779623261,2
    		C,F--40088630(+) TACCCG/TCTTGA 1 -- ds50011Minor allele frequency- T:0.23EA 120
    rs1894342771,2
    		--40088659(+) ATACCC/TCAACT 1 -- ds50010--------
    rs1152028531,2
    		C,F--40088731(+) ATGGAA/GGGTGT 1 -- ds50010--------
    rs1857576761,2
    		--40088743(+) CCCCCA/CACTCA 1 -- ds50010--------
    rs120295691,2
    		C,F,A,H--40088816(+) GTGTTC/AGTTGG 1 -- ds500112Minor allele frequency- A:0.10NS EA NA 1494
    rs751897071,2
    		F--40088817(+) TGTTCG/ATTGGA 1 -- ds50011Minor allele frequency- A:0.05NA 120
    rs1896937501,2
    		--40089155(+) AGGCCC/TTGTGC 1 -- ut310--------
    rs120224231,2
    		C,A--40089370(+) GCAACG/TTTGAA 1 -- ut313Minor allele frequency- T:0.23NA EA 124
    rs1142975141,2
    		C,F--40089408(+) AGCCAT/GGCACA 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs1164017021,2
    		C,F--40089425(+) GGGAAG/TAGCAT 1 -- ut311Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for HEYL (40089103 - 40105617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HEYL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv566CNV Insertion18451855
    nsv829649CNV Loss17160897
    nsv7177OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEYL
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    Disorders / Diseases
    for HEYL gene

    (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

    TryGeneCards Plus    		 OMIM gene information: 609034    OMIM disorders: --

    3 diseases for HEYL:    About MalaCards
    glaucoma    neuronitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for HEYL:
    Glaucoma

    HEYL for disorders           About GeneDecksing


    Export disorders for HEYL gene to outside databases

    Publications
    for HEYL gene

    (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

    TryGeneCards Plus
    PubMed articles for HEYL gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with HEYL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family. (PubMed id 10860664)1, 2, 3, 9 Steidl C.... Gessler M. (Genomics 2000)
    2. Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism. (PubMed id 15485867)1, 2 Kathiriya I.S.... Nakagawa O. (J. Biol. Chem. 2004)
    3. Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. (PubMed id 10964718)1, 2 Maier M.M. and Gessler M. (Biochem. Biophys. Res. Commun. 2000)
    4. Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling. (PubMed id 11095750)1, 2 Nakagawa O.... Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    5. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PubMed id 10415358)1, 3 Leimeister C.... Gessler M. (Mech. Dev. 1999)
    6. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
    7. Seventy-five genetic loci influencing the human red blood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (Nature 2012)
    8. Differential effects of the HESR/HEY transcription factor family on dopamine transporter reporter gene expression via variable number of tandem repeats. (PubMed id 21290414)1 Kanno K. and Ishiura S. (J. Neurosci. Res. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Repression of androgen receptor activity by HEYL, a third member of the Hairy/Enhancer-of-split-related family of Notch effectors. (PubMed id 21454491)1 Lavery D.N....Bevan C.L. (J. Biol. Chem. 2011)

    External Searches for HEYL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HEYL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 26508 HGNC: 4882 AceView: HEYL Ensembl:ENSG00000163909 euGenes: HUgn26508
    ECgene: HEYL H-InvDB: HEYL

    Other Databases showing HEYL gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing HEYL gene

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for HEYL Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HEYL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for HEYL gene:
    Search GeneIP for patents involving HEYL

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



    Products
    for HEYL gene

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus
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