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

HEYL Gene

protein-coding   GIFtS: 58
GCID: GC01M040119

Hairy/Enhancer-Of-Split Related With YRPW Motif-Like
  See related diseases
at
MalaCards
 

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)
About This Section
Aliases
Hairy/Enhancer-Of-Split Related With YRPW Motif-Like1 2     hHRT32 3
Hairy/Enhancer-Of-Split Related With YRPW Motif 31 2     hHeyL2 3
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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 (hairy/enhancer-of-split related with YRPW motif-like) is a protein-coding gene. Diseases associated with HEYL include glaucoma, and neuronitis, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HEYL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Nucleus (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQ87

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

    HEYL Protein Expression
    REFSEQ proteins: NP_055386.1  
    ENSEMBL proteins: 
     ENSP00000361943   ENSP00000439071  
    Reactome Protein details: Q9NQ87
    Human Recombinant Protein Products for HEYL: 
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    OriGene Protein Over-expression Lysate for HEYL
    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for HEYL
    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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    HEYL for ontologies           About GeneDecksing



    HEYL Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for HEYL 

    Assay Products for HEYL: 
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    Protein 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
    		 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,
    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: 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 (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for HEYL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEYL
    8/34 QIAGEN miScript miRNA 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
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HEYL

    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with HEYL: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEYL


    Pathways & Interactions
    for HEYL gene

    (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 HEYL About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    		Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    		Signaling by NOTCH1 in Cancer0.79
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    		Signaling by NOTCH10.79
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    		Signaling by NOTCH0.74
    2Signaling by GPCR
    		Signal Transduction0.55
    3Disease
    		Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/12        Reactome Pathways for HEYL (see all 12)
        NOTCH1 Intracellular Domain Regulates Transcription
    Signaling by NOTCH
    FBXW7 Mutants and NOTCH1 in Cancer
    Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 in Cancer



    HEYL for pathways           About GeneDecksing

    Interactions:

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

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

    5/25 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): 5/22 biological process terms (GO ID links to tree view) (see all 22):    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 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 HEYL

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HEYL
    8/34 QIAGEN miScript miRNA 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
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    Inhib. RNA
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    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 

    24/139 AceView cDNA sequences (see all 139):

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

    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™, 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

    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 
     5/13 selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Zeugopod Periosteum
             TGFbeta3+BMP7-induced chondrocytes
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Pons
             Olfactory Bulb   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Metanephros
             renal vesicle e12.5   
     
     Hair (Integumentary System)    fully expand to see all 4 entries
             Fetal Inner Root Sheath Cells Inner Root Sheath
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             TGFbeta3+BMP7-induced chondrocytes

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

    SOURCE GeneReport for Unigene cluster: Hs.472566
        SABiosciences Expression via Pathway-Focused 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
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    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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for HEYL gene from 4/10 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 66.77(n)
    63.55(a)    		   771101  XM_001234405.2  XP_001234406.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii heyl1 hairy/enhancer-of-split related with YRPW motif-like 53.59(n)
    50.98(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)
    About This Section
    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) 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

    10/355 SNPs in HEYL are shown (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
    ----------
    VAR_0321124
    		----see VAR_0321122 H R mis40--------
    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

    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

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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
    		 OMIM gene information: 609034    OMIM disorders: --

    2 diseases for HEYL:    About MalaCards
    glaucoma    neuronitis

    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

    PubMed articles for HEYL gene, integrated from 9 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. (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. (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. (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. (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. (1999)
    6. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (2013)
    7. Seventy-five genetic loci influencing the human red bl ood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (2012)
    8. Differential effects of the HESR/HEY transcription fa ctor family on dopamine transporter reporter gene expression via variable numbe r of tandem repeats. (PubMed id 21290414)1 Kanno K. and Ishiura S. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Repression of androgen receptor activity by HEYL, a t hird member of the Hairy/Enhancer-of-split-related family of Notch effectors. (PubMed id 21454491)1 Lavery D.N....Bevan C.L. (2011)

    External Searches for HEYL gene

    (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)

    Genome Databases showing HEYL gene

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

    Specialized Databases showing HEYL gene

    (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 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
    		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



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    About This Section

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