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HEY2 Gene

protein-coding   GIFtS: 59

GC06P126112
hairy/enhancer-of-split related with YRPW motif 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
CHF1 2, 3
GRIDLOCK 2
GRL 2, 3, 5
HERP 3
HERP1 2, 3, 5
HESR-2 3
HESR2 2
HRT2 2, 3
MGC10720 2
OTTHUMP00000017138 2
bHLHb32 1, 2
hCHF1 3
hHRT2 3
Descriptions
Cardiovascular helix-loop-helix factor 1 3
HES-related repressor protein 1 2
HES-related repressor protein 2 3
Hairy and enhancer of split-related protein 2 3
Hairy-related transcription factor 2 2, 3
Protein gridlock homolog 3
cardiovascular basic helix-loop-helix factor 1 2
hairy/enhancer-of-split related with YRPW motif 2 2
External Ids
HGNC: 48811
Entrez Gene: 234932
UniProtKB: Q9UBP53
Ensembl: ENSG000001355477
Search outside databases for aliases for HEY2 gene

Previous GC identifers: GC06P125730 GC06P125917 GC06P126003 GC06P126051

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HEY2:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HEY2 gene  

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)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P126112:     (about GC identifiers)

Start:
126,110,503 bp from pter
End:
126,124,108 bp from pter
Size:
13,606 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000006.10  NT_025741.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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
Subcellular location: Nucleus (By similarity)

REFSEQ proteins: NP_036391.1  

ENSEMBL proteins: 
ENSP00000357348 ENSP00000357349 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HEY2)
Human Recombinant Proteins from Abnova (HEY2)
              OriGene Purified Recombinant Human Protein: HEY2 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
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Antibodies for HEY2: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of HEY2
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (HEY2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HEY2)
Novus Biologicals Antibody for HEY2

Assays for HEY2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro domains/families:
 IPR018352 Orange_subgroup
 IPR001092 HLH_basic
 IPR003650 Orange
 IPR011598 HLH_DNA_bd


   GeneDecks  HEY2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9UBP5

ProtoNet protein and cluster: Q9UBP5

2 Blocks protein families:
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 basic helix-loop-helix (bHLH) domain
Similarity: Contains 1 Orange domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HEY2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HEY2)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_012259

              Applied Biosystems Silencer® siRNAs for HEY2

              Sigma-Aldrich siRNA for HEY2  
                     Sigma-Aldrich shRNA for HEY2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for HEY2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012259
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_012259
                                 untagged cDNA clone in CMV expression vector: NM_012259 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: BC007707

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

10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Hey2):

craniofacialembryogenesisgrowth/sizelethality-postnatal
lethality-prenatal/perinatallife span-post-weaning/agingmusclenervous systemrespiratory system

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 transcription factor activity TAS10415358
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Millipore Pathways for HEY2
 Development Notch Signaling Pathway
 Transcription factors in neurogenesis

   GeneDecks  HEY2 for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HEY2  (Your Favorite Gene powered by Ingenuity) 
 Notch Signaling

   GeneDecks  HEY2 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  HEY2 


5/21 Interacting proteins for HEY2 (Q9UBP52 ENSP000003573483) via UniProtKB, MINT, and/or STRING (see all 21 )
InteractantInteraction Details
GeneCardExternal ID(s)
PLSCR1O151622MINT-67859
NOTCH1ENSP000003607653STRING (score=.985)
GATA4ENSP000003344583STRING (score=.951)
FOXC2ENSP000003263713STRING (score=.925)
TBX2ENSP000002403283STRING (score=.924)
About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006355 regulation of transcription, DNA-dependent IEA--
GO:0007219 Notch signaling pathway IEA--
GO:0007275 multicellular organismal development IEA--
GO:0007399 nervous system development TAS10415358
GO:0009887 organ morphogenesis TAS10415358
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HEY2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HEY2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HEY2)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_012259

              Sigma-Aldrich siRNA for HEY2  
                     Sigma-Aldrich shRNA for HEY2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_012259  

REFSEQ mRNAs for HEY2 gene: 

NM_012259.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_012259  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012259
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_012259
                                 untagged cDNA clone in CMV expression vector: NM_012259 

Additional cDNA sequence: 

AB044755.1 AF173901.1 AF232238.1 AF237949.1 AF311884.1 AJ249545.1 AK289943.1 AK303890.1 
BC007707.2 BT020067.1 BT020068.1 CR596074.1 

1 DOTS entry:

DT.40112713 

24/52 AceView cDNA sequences (see all 52 ):

BM669820 AF311884 AF237949 BM726187 AI797772 CR596074 AI989833 AI299482 
BM699158 BC007707 BM721133 NM_012259 AA884571 AJ249545 AA116068 CA425373 
BM679557 AB044755 AL541730 CD250536 BE468134 CA450231 AI695960 BI560995 

highest scoring ESTs for HEY2:

AA116068 N46845 AA884571 AB044755 AF173901 AF232238 AF237949 AF311884 AI299482 AI695960 

Unigene Cluster for HEY2:

Hairy/enhancer-of-split related with YRPW motif 2
Hs.144287  [show with all ESTs]
Unigene Representative Sequence: NM_012259


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:
ENST00000368364  ENST00000368365  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HEY2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HEY2

1 / 2 / 3

6 probe-sets matching HEY2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
79699_at2, 3 U95-D 1 1.00 1.00 0.98 0.96 AA116068 1.00 1.00 1.00 1
46813_at2, 3 U95-B 1 1.00 1.00 0.98 1.04 N46845 1.00 1.00 1.00 1

222921_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF232238 0.80 1.00 0.91 1

219743_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012259 0.60 1.00 0.82 1

222921_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

219743_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HEY2 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TATTATGCAC

SOURCE GeneReport for Unigene cluster: Hs.144287
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for HEY2 gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
HEY21   -- hairy/enhancer-of-split related with YRPW motif 2 99.6(n)
100(a)
472118  XM_527497.2  XP_527497.2 
cow
(Bos taurus)
HEY21   -- hairy/enhancer-of-split related with YRPW motif 2 90.31(n)
98.22(a)
538619  XM_581531.3  XP_581531.2 
rat
(Rattus norvegicus)
Hey21   -- hairy/enhancer-of-split related with YRPW motif 2 86.75(n)
94.66(a)
155430  XM_344806.3  XP_344807.2 
mouse
(Mus musculus)
Hey21, 5 105
hairy/enhancer-of-split related with YRPW motif 21, 5 86.94(n)1
94.07(a)1
152141  NM_013904.11  NP_038932.11 
 AB0935895  AF1722875  (see all 15)
chicken
(Gallus gallus)
HEY21   -- hairy/enhancer-of-split related with YRPW motif 2 81.74(n)
91.32(a)
421718  XM_419754.2  XP_419754.2 
About this table        Species with no ortholog for HEY2

ENSEMBL Gene Tree for HEY2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for HEY2 gene
HEYL2  HEY12  HELT2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/46 NCBI SNPs in HEY2 are shown (see all 46 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 41)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs13431161,2
A,C,F,H126111395(-) AAACAT/GGTTTT 1 -- ng515Minor allele frequency- G:0.46MN EU EA WA 600
rs13431151,2
A,C,F126111510(-) CGGGAC/GGTGAA 1 -- ng513Minor allele frequency- G:0.44MN NA 366
rs19359831,2
A,C126110607(-) GCGCCA/GGTCGC 1 -- ng510--------
--
rs77640161,2
A,C126112482(+) GCCGCG/TAGGAG 1 -- ut51 ese30--------
rs37572171,2
A,C126111329(-) TGCGTC/GTGCGA 1 -- ng510--------
rs37997091,2
A,C,F,H126120054(-) GGTAAC/TGAATA 1 -- int122Minor allele frequency- T:0.47EA NS NA EU WA 2994
rs37997111,2
A,C,F,H126117006(-) ATTTCG/AGTTGT 1 -- int118Minor allele frequency- A:0.46EA NS EU WA NA 2796
rs37997081,2
A,C,F,H126120223(-) AAAAAT/CAGTTA 1 -- int19Minor allele frequency- C:0.35EA EU WA NA 2074
rs37997121,2
A,C,F,H126116796(-) AGTCCC/TGAAAT 1 -- int14Minor allele frequency- T:0.42EU EA WA 412
rs77487291,2
A,C,F126119074(+) TCAGGT/CCATTG 1 -- int12Minor allele frequency- C:0.38NA 182
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HapMap Linkage Disequilibrium images for HEY2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 604674

UniProtKB/Swiss-Prot: HEY2_HUMAN, Q9UBP5
  • Defects in HEY2 may be involved in atrioventricular septal defects (AVSD)
  • Genetic Association Database: HEY2
    Human Genome Epidemiology Navigator: HEY2 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/34 PubMed articles for HEY2 gene (see all 34 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 23493 HGNC: 4881 AceView: HEY2 Ensembl:ENSG00000135547 euGenes: HUgn23493
    ECgene: HEY2 H-InvDB: HEY2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HEY2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for HEY2-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for HEY2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HEY2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for HEY2




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HEY2

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