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HEY2 Gene(Protein Coding)

Hes Related Family BHLH Transcription Factor With YRPW Motif 2

GCID:
GC06P125730
GIFtS:
57
Genes Participants
UDN Logo

Aliases for HEY2 Gene

Aliases for HEY2 Gene

  • Hes Related Family BHLH Transcription Factor With YRPW Motif 2 2 3 5
  • Hairy/Enhancer-Of-Split Related With YRPW Motif 2 2 3
  • Hairy And Enhancer Of Split-Related Protein 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 32 3 4
  • Cardiovascular Helix-Loop-Helix Factor 1 3 4
  • Hairy-Related Transcription Factor 2 3 4
  • HES-Related Repressor Protein 2 3 4
  • Protein Gridlock Homolog 3 4
  • BHLHb32 3 4
  • HESR-2 3 4
  • HERP1 3 4
  • HRT-2 3 4
  • HCHF1 3 4
  • HHRT2 3 4
  • CHF1 3 4
  • HRT2 3 4
  • GRL 3 4
  • Hes-Related Family BHLH Transcription Factor With YRPW Motif 2 2
  • Hairy/Enhancer-Of-Split Related With YRPW Motif Protein 2 3
  • Cardiovascular Basic Helix-Loop-Helix Factor 1 3
  • HES-Related Repressor Protein 1 3
  • GRIDLOCK 3
  • HESR2 3
  • HERP 4

External Ids for HEY2 Gene

Previous GeneCards Identifiers for HEY2 Gene

  • GC06P125917
  • GC06P126003
  • GC06P126051
  • GC06P126112
  • GC06P126068
  • GC06P123645

Summaries for HEY2 Gene

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 Valve Stenosis and Tricuspid Atresia. Among its related pathways are Signaling by NOTCH1 and HIV Life Cycle. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is HEY1.

UniProtKB/Swiss-Prot for HEY2 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEY2 Gene

Genomics for HEY2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for HEY2 Gene

Enhancers for HEY2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G125745 2 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +0.4 363 5.3 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 HEY2 LOC105377986
GH06G125788 1.7 FANTOM5 ENCODE dbSUPER 22.7 +44.2 44234 6.3 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 ARID4B FEZF1 ZNF2 ZNF766 HEY2 HINT3 NCOA7-AS1 LOC105377986 NCOA7 TRMT11
GH06G125779 1.7 Ensembl ENCODE dbSUPER 21.7 +33.8 33834 3.4 CREB3L1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D ZNF610 GLIS1 HEY2 CENPW NCOA7 NCOA7-AS1
GH06G125758 0.9 dbSUPER 23.9 +9.3 9321 1.0 MLX SIN3A DMAP1 RAD21 ZSCAN9 DNMT3B GATA4 CREM THAP11 MIXL1 HEY2 LOC105377986 HDDC2 HINT3 TRE-CTC1-7
GH06G125757 0.9 dbSUPER 23.4 +9.1 9079 0.5 MLX DMAP1 RAD21 ZSCAN9 DNMT3B GATA4 CREM THAP11 MIXL1 HMG20B HEY2 HDDC2 HINT3 LOC105377986 TRE-CTC1-7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEY2 on UCSC Golden Path with GeneCards custom track

Promoters for HEY2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000202239 736 3201 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Transcription factor binding sites by QIAGEN in the HEY2 gene promoter:

Genomic Location for HEY2 Gene

Chromosome:
6
Start:
125,747,664 bp from pter
End:
125,761,271 bp from pter
Size:
13,608 bases
Orientation:
Plus strand

Genomic View for HEY2 Gene

Genes around HEY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEY2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HEY2 Gene

Proteins for HEY2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HEY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBP5-HEY2_HUMAN
    Recommended name:
    Hairy/enhancer-of-split related with YRPW motif protein 2
    Protein Accession:
    Q9UBP5

    Protein attributes for HEY2 Gene

    Size:
    337 amino acids
    Molecular mass:
    35808 Da
    Quaternary structure:
    • 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.

neXtProt entry for HEY2 Gene

Post-translational modifications for HEY2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEY2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HEY2

No data available for DME Specific Peptides for HEY2 Gene

Domains & Families for HEY2 Gene

Gene Families for HEY2 Gene

HGNC:

Protein Domains for HEY2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HEY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBP5

UniProtKB/Swiss-Prot:

HEY2_HUMAN :
  • Belongs to the HEY family.
Family:
  • Belongs to the HEY family.
genes like me logo Genes that share domains with HEY2: view

Function for HEY2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HEY2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for HEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific ISS,IEA --
GO:0000988 transcription factor activity, protein binding IDA 21290414
GO:0001102 RNA polymerase II activating transcription factor binding IPI 16293227
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 15485867
genes like me logo Genes that share ontologies with HEY2: view
genes like me logo Genes that share phenotypes with HEY2: view

Animal Models for HEY2 Gene

MGI Knock Outs for HEY2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEY2 Gene

Localization for HEY2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEY2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEY2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS,IEA --
GO:0016580 colocalizes_with Sin3 complex IDA 11486045
GO:0017053 transcriptional repressor complex IDA 11486045
genes like me logo Genes that share ontologies with HEY2: view

Pathways & Interactions for HEY2 Gene

genes like me logo Genes that share pathways with HEY2: view

SIGNOR curated interactions for HEY2 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for HEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 11486045
GO:0001568 blood vessel development IEA --
GO:0001570 vasculogenesis ISS,IEA --
GO:0003150 muscular septum morphogenesis ISS,IEA --
GO:0003151 outflow tract morphogenesis ISS,IEA --
genes like me logo Genes that share ontologies with HEY2: view

Drugs & Compounds for HEY2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HEY2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HEY2 Gene

(4) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(52) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEY2 Gene

Hairy/enhancer-of-split related with YRPW motif 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEY2 Gene

No ASD Table

Relevant External Links for HEY2 Gene

GeneLoc Exon Structure for
HEY2
ECgene alternative splicing isoforms for
HEY2

Expression for HEY2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEY2 Gene

mRNA expression in normal human tissues for HEY2 Gene
mRNA expression by BioGPS for HEY2 GenemRNA expression by GTEx for HEY2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEY2 Gene

This gene is overexpressed in Artery - Tibial (x11.1), Heart - Left Ventricle (x5.1), and Artery - Coronary (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of HEY2 Gene:

HEY2

SOURCE GeneReport for Unigene cluster for HEY2 Gene:

Hs.144287

Evidence on tissue expression from TISSUES for HEY2 Gene

  • Heart(4.6)
  • Lung(4.2)
  • Muscle(2.4)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with HEY2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEY2 Gene

Orthologs for HEY2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HEY2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HEY2 34 35
  • 99.6 (n)
oppossum
(Monodelphis domestica)
 Mammalia HEY2 35
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HEY2 34 35
  • 90.31 (n)
dog
(Canis familiaris)
 Mammalia HEY2 34 35
  • 87.58 (n)
mouse
(Mus musculus)
 Mammalia Hey2 34 16 35
  • 86.94 (n)
rat
(Rattus norvegicus)
 Mammalia Hey2 34
  • 86.84 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HEY2 35
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100858839 34
  • 79.07 (n)
lizard
(Anolis carolinensis)
 Reptilia HEY2 35
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hey2 34
  • 73.19 (n)
zebrafish
(Danio rerio)
 Actinopterygii hey2 34 35
  • 70.47 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Hey 36 35
  • 56 (a)
Species where no ortholog for HEY2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEY2 Gene

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

Paralogs for HEY2 Gene

Paralogs for HEY2 Gene

(3) SIMAP similar genes for HEY2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HEY2: view

Variants for HEY2 Gene

Sequence variations from dbSNP and Humsavar for HEY2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000054095 -- 125,749,026(+) AGTTG(A/T)CAGAT intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000261176 -- 125,756,126(+) AGTTC(C/T)ATCTT intron-variant
rs1000514239 -- 125,753,873(+) AAAAC(C/G)TTAAA intron-variant
rs1000547136 -- 125,753,532(+) AAAGC(A/G/T)TAGGG intron-variant
rs1000647912 -- 125,757,160(+) TAGTA(A/G)AATAA intron-variant

Variation tolerance for HEY2 Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEY2 Gene

Human Gene Mutation Database (HGMD)
HEY2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEY2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HEY2 Gene

Disorders for HEY2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HEY2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tricuspid valve stenosis
  • tricuspid stenosis
tricuspid atresia
  • congenital agenesis of the tricuspid valve
alagille syndrome
  • alagille syndrome 1
pediatric ependymoma
  • childhood ependymoma
labyrinthitis
  • labyrinthine disorder
- elite association - COSMIC cancer census association via MalaCards
Search HEY2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HEY2

Genetic Association Database (GAD)
HEY2
Human Genome Epidemiology (HuGE) Navigator
HEY2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEY2
genes like me logo Genes that share disorders with HEY2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEY2 Gene

Publications for HEY2 Gene

  1. HERP, a new primary target of Notch regulated by ligand binding. (PMID: 11486044) Iso T. … Hamamori Y. (Mol. Cell. Biol. 2001) 3 4 22 64
  2. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. (PMID: 10415358) Leimeister C. … Gessler M. (Mech. Dev. 1999) 2 3 4 64
  3. Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer. (PMID: 17611704) Katoh M. … Katoh M. (Int. J. Oncol. 2007) 3 22 64
  4. CHF1/Hey2 suppresses SM-MHC promoter activity through an interaction with GATA-6. (PMID: 16293227) Shirvani S. … Chin M.T. (Biochem. Biophys. Res. Commun. 2006) 3 4 64
  5. HEY2 mutations in malformed hearts. (PMID: 16329098) Reamon-Buettner S.M. … Borlak J. (Hum. Mutat. 2006) 3 4 64

Products for HEY2 Gene

Sources for HEY2 Gene

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