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HEY2 Gene

protein-coding   GIFtS: 61
GCID: GC06P126068

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

(Previous name: hairy/enhancer-of-split related with YRPW motif 2)
  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)
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Aliases
Hes-Related Family BHLH Transcription Factor With YRPW Motif 21 2     HRT22 3
GRL2 3 5     bHLHb322 3
HERP12 3 5     hCHF12 3
Hairy/Enhancer-Of-Split Related With YRPW Motif 21 2     hHRT22 3
Cardiovascular Helix-Loop-Helix Factor 12 3     HES-Related Repressor Protein 22 3
Class B Basic Helix-Loop-Helix Protein 322 3     GRIDLOCK2
Hairy And Enhancer Of Split-Related Protein 22 3     HESR22
Hairy-Related Transcription Factor 22 3     Cardiovascular Basic Helix-Loop-Helix Factor 12
Protein Gridlock Homolog2 3     Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 22
CHF12 3     HES-Related Repressor Protein 12
HESR-22 3     BHLHB323
HRT-22 3     HERP3

External Ids:    HGNC: 48811   Entrez Gene: 234932   Ensembl: ENSG000001355477   OMIM: 6046745   UniProtKB: Q9UBP53   

Export aliases for HEY2 gene to outside databases

Previous GC identifers: GC06P125730 GC06P125917 GC06P126003 GC06P126051 GC06P126112 GC06P123645


(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 HEY2 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 encoded protein forms homo- or hetero-dimers that localize to the nucleus
and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by
the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic
cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced
transcript variants have been found, but their biological validity has not been determined. (provided by RefSeq,
Jul 2008)

GeneCards Summary for HEY2 Gene:
HEY2 (hes-related family bHLH transcription factor with YRPW motif 2) is a protein-coding gene. Diseases associated with HEY2 include tricuspid atresia, and tricuspid valve stenosis. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HEYL.

UniProtKB/Swiss-Prot: HEY2_HUMAN, Q9UBP5
Function: Downstream effector of Notch signaling which may be required for cardiovascular development.
Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses
transcription by the cardiac transcriptional activators GATA4 and GATA6

Gene Wiki entry for HEY2 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_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEY2 gene promoter:
         HOXA9   HOXA9B   MyoD   MZF-1   CREB   Nkx6-1   deltaCREB   Meis-1a   Meis-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEY2 promoter sequence
   Search Chromatin IP Primers for HEY2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEY2


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q

HEY2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEY2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P126068:  view genomic region     (about GC identifiers)

Start:
126,068,810 bp from pter      End:
126,082,415 bp from pter
Size:
13,606 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: HEY2_HUMAN, Q9UBP5 (See protein sequence)
Recommended Name: Hairy/enhancer-of-split related with YRPW motif protein 2  
Size: 337 amino acids; 35808 Da
Subunit: May self-associate (By similarity). Interacts with GATA4, HES1 and HEYL (By similarity). Interacts with
HDAC1, NCOR1 and SIN3A (By similarity). Interacts with ARNT and GATA6

Explore the universe of human proteins at neXtProt for HEY2: NX_Q9UBP5

Explore proteomics data for HEY2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HEY2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036391.1  
    ENSEMBL proteins: 
     ENSP00000357349   ENSP00000357348  
    Reactome Protein details: Q9UBP5

    HEY2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HEY2
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    Novus Biologicals HEY2 Proteins
    Novus Biologicals HEY2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HEY2

    HEY2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HEY2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HEY2
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    Novus Biologicals HEY2 Antibodies
    Abcam antibodies for HEY2
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    ThermoFisher Antibodies for HEY2
    LSBio Antibodies in human, mouse, rat for HEY2

    HEY2 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 HEY2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HEY2
    Cloud-Clone Corp. CLIAs for HEY2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 Q9UBP5

    ProtoNet protein and cluster: Q9UBP5

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


    UniProtKB/Swiss-Prot: HEY2_HUMAN, Q9UBP5
    Similarity: Belongs to the HEY family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    HEY2 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,
    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: HEY2_HUMAN, Q9UBP5
    Function: Downstream effector of Notch signaling which may be required for cardiovascular development.
    Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses
    transcription by the cardiac transcriptional activators GATA4 and GATA6

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity ISS--
    GO:0000988protein binding transcription factor activity IDA--
    GO:0001102RNA polymerase II activating transcription factor binding IPI16293227
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15485867
         
    HEY2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HEY2:
     Increased S DNA content 

         10 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Hey2):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  homeostasis/metabolism 
     liver/biliary system  mortality/aging  muscle  nervous system  respiratory system 

    HEY2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HEY2: Hey2tm1Mtc Hey2tm2Eno Hey2tm1Kkb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEY2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HEY2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEY2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEY2

    miRNA
    Products:
        
    miRTarBase miRNAs that target HEY2:
    hsa-mir-181a-5p (MIRT025160), hsa-mir-128-3p (MIRT022041), hsa-mir-148b-3p (MIRT019456)

    Block miRNA regulation of human, mouse, rat HEY2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEY2 (see all 26):
    hsa-miR-448 hsa-miR-520d-5p hsa-miR-137 hsa-miR-539 hsa-miR-181c hsa-miR-450b-3p hsa-miR-519a hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidHEY2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HEY2
    Predesigned siRNA for gene silencing in human, mouse, rat HEY2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HEY2

    Clone
    Products:
         
    OriGene clones in human, mouse for HEY2 (see all 5)
    OriGene ORF clones in mouse, rat for HEY2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEY2 (NM_012259)
    Sino Biological Human cDNA Clone for HEY2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEY2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HEY2
    Browse ESI BIO Cell Lines and PureStem Progenitors for HEY2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY2


    (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
    HEY2_HUMAN, Q9UBP5: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ISS--
    GO:0016580colocalizes with Sin3 complex IDA11486045
    GO:0017053transcriptional repressor complex IDA11486045

    HEY2 for ontologies           About GeneDecksing


    (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 HEY2 About   (see all 9)  
    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
    3Development NOTCH1 mediated pathway for NF KB activity modulation
    Development Notch Signaling Pathway0.50
    4Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    5Transcription factors in neurogenesis
    Transcription factors in neurogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for HEY2
        Development Notch Signaling Pathway

    4 BioSystems Pathways for HEY2
        Heart Development
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Notch-mediated HES/HEY network


    3 Reactome Pathways for HEY2
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Constitutive Signaling by NOTCH1 PEST Domain Mutants



    HEY2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEY2: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HEY2

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

    Selected Interacting proteins for HEY2 (Q9UBP51, 2, 3 ENSP000003573484) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB61, 3, ENSP000002120154EBI-750630,EBI-1802965 I2D: score=2 STRING: ENSP00000212015
    PLSCR1O151622, 3, ENSP000003454944MINT-67859 I2D: score=5 STRING: ENSP00000345494
    HAND2P612963, ENSP000003525654I2D: score=2 STRING: ENSP00000352565
    BTRCQ9Y2973, ENSP000003592064I2D: score=1 STRING: ENSP00000359206
    CASP3P425743, ENSP000003110324I2D: score=1 STRING: ENSP00000311032
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP11486045
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis ISS--
    GO:0003150muscular septum morphogenesis ISS--
    GO:0003151outflow tract morphogenesis ISS--

    HEY2 for ontologies           About GeneDecksing



    (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 HEY2



    (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 HEY2 gene: 
    NM_012259.2  

    Unigene Cluster for HEY2:

    Hairy/enhancer-of-split related with YRPW motif 2
    Hs.144287  [show with all ESTs]
    Unigene Representative Sequence: NM_012259
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368365(uc011ebr.2) ENST00000368364(uc003qad.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat HEY2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEY2 (see all 26):
    hsa-miR-448 hsa-miR-520d-5p hsa-miR-137 hsa-miR-539 hsa-miR-181c hsa-miR-450b-3p hsa-miR-519a hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidHEY2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HEY2
    Predesigned siRNA for gene silencing in human, mouse, rat HEY2
    Clone
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    OriGene clones in human, mouse for HEY2 (see all 5)
    OriGene ORF clones in mouse, rat for HEY2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEY2 (NM_012259)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEY2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEY2
    Primer
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    OriGene qPCR primer pairs and template standards for HEY2
    OriGene qSTAR qPCR primer pairs in human, mouse for HEY2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEY2
      QuantiTect SYBR Green Assays in human, mouse, rat HEY2
      QuantiFast Probe-based Assays in human, mouse, rat HEY2

    Additional mRNA sequence: 

    AB044755.1 AF173901.1 AF232238.1 AF237949.1 AF311884.1 AJ249545.1 AK289943.1 AK303890.1 
    BC007707.2 BT020067.1 BT020068.1 

    1 DOTS entry:

    DT.40112713 

    Selected AceView cDNA sequences (see all 52):

    AF311884 BM679557 BM721133 AI989833 BM726187 AA884571 CR596074 BM699158 
    BM669820 AA116068 CA425373 AF237949 AI299482 AI797772 NM_012259 AJ249545 
    AB044755 BC007707 AI695960 CA450231 BI463307 BM804857 CD250536 AW069184 

    GeneLoc Exon Structure


    (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)
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    HEY2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTATGCAC
    HEY2 Expression
    About this image


    HEY2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Thalamus
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Late Retinal Progenitor Cells Retinal Neuroblastic Layer
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
    HEY2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEY2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144287
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HEY2: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Angiogenic Growth Factors 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 HEY2
    OriGene qSTAR qPCR primer pairs in human, mouse for HEY2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEY2
    QuantiTect SYBR Green Assays in human, mouse, rat HEY2
    QuantiFast Probe-based Assays in human, mouse, rat HEY2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEY2

    (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 HEY2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hey21 , 5 hairy/enhancer-of-split related with YRPW motif 21, 5 86.94(n)1
    93.77(a)1
      10 (17.19 cM)5
    152141  NM_013904.11  NP_038932.11 
     308323595 
    chicken
    (Gallus gallus)
    Aves LOC1008588391 hairy/enhancer-of-split related with YRPW motif protein more 79.07(n)
    88.79(a)
      100858839  XM_003643163.2  XP_003643211.1 
    lizard
    (Anolis carolinensis)
    Reptilia HEY26
    hes-related family bHLH transcription factor with ...
    90(a)
    1 ↔ 1
    1(180532647-180559330)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hey21 hairy/enhancer-of-split related with YRPW motif 2 73.19(n)
    80.42(a)
      100485328  XM_002935996.2  XP_002936042.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hey22 hairy/enhancer-of-split related with YRPW motif 2 76.44(n)   58146  AF237948.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hey3 transcription factor 56(a)   44A2   --


    ENSEMBL Gene Tree for HEY2 (if available)
    TreeFam Gene Tree for HEY2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEY2 gene
    HEYL2  HEY12  HELT2  
    3 SIMAP similar genes for HEY2 using alignment to 2 protein entries:     HEY2_HUMAN (see all proteins):
    OAF1    HEY1    HEYL

    HEY2 for paralogs           About GeneDecksing



    (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 HEY2 (see all 283)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121321351,2
    C--126068783(+) CATTTG/CAATTC 1 -- us2k12Minor allele frequency- C:0.08NA 122
    rs1125092051,2
    F--126068796(+) AAAAAC/TGTGCA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1812285681,2
    --126068843(+) TGGCGG/TGCCGC 1 -- us2k10--------
    rs19359831,2
    C,A,H--126068914(-) GCGCCA/GGTCGC 1 -- us2k16Minor allele frequency- G:0.43NA CSA WA EA 363
    rs1177130041,2
    F--126069035(+) CCATCC/TGCCCT 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs1143288331,2
    F--126069047(+) AGGCCG/CACAGG 1 -- us2k11Minor allele frequency- C:0.10WA 118
    rs1122651231,2
    C,F--126069222(+) GGACCG/ACGCAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs737711721,2
    C,F--126069271(+) AATAAG/AGGCTT 1 -- us2k12Minor allele frequency- A:0.06WA 120
    rs1897103281,2
    --126069393(+) GCCCCG/TCGCCG 1 -- us2k10--------
    rs1834340241,2
    C--126069537(+) ACCAAC/GCGGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HEY2 (126068810 - 126082415 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HEY2: --
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing HEY2:
    Glioma
    SeqTarget long-range PCR primers for resequencing HEY2
    DNA2.0 Custom Variant and Variant Library Synthesis for HEY2

    (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.)
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    OMIM gene information: 604674    OMIM disorders: --

    15 diseases for HEY2:    
    About MalaCards
    tricuspid atresia    tricuspid valve stenosis    alagille syndrome    congenital heart defect
    tetralogy of fallot    abdominal aortic aneurysm    aortic aneurysm    glaucoma
    osteosarcoma    hypoxia    endotheliitis    malaria
    retinitis    cerebritis    pancreatitis

    3 diseases from the University of Copenhagen DISEASES database for HEY2:
    Tricuspid valve stenosis     Congenital heart defect     Alagille syndrome

    HEY2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HEY2
    Human Genome Epidemiology (HuGE) Navigator: HEY2 (1 document)

    Export disorders for HEY2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HEY2 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with HEY2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PubMed id 10415358)1, 2, 3 Leimeister C.... Gessler M. (Mech. Dev. 1999)
    2. HERP, a new primary target of Notch regulated by ligand binding. (PubMed id 11486044)1, 2, 9 Iso T.... Hamamori Y. (Mol. Cell. Biol. 2001)
    3. HEY2 mutations in malformed hearts. (PubMed id 16329098)1, 2 Reamon-Buettner S.M. and Borlak J. (Hum. Mutat. 2006)
    4. CHF1/Hey2 suppresses SM-MHC promoter activity through an interaction with GATA-6. (PubMed id 16293227)1, 2 Shirvani S.... Chin M.T. (Biochem. Biophys. Res. Commun. 2006)
    5. ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia. (PubMed id 15643620)1, 4 Sarkozy A....Dallapiccola B. (Am. J. Med. Genet. A 2005)
    6. 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)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. 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)
    10. Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system. (PubMed id 10692439)1, 2 Chin M.T.... Lee M.-E. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23493 HGNC: 4881 AceView: HEY2 Ensembl:ENSG00000135547 euGenes: HUgn23493
    ECgene: HEY2 H-InvDB: HEY2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HEY2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HEY2 gene:
    Search GeneIP for patents involving HEY2

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



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