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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
  • BHLHB32 4
  • 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 HIV Life Cycle and Gastric cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for HEY2 Gene

Promoters and enhancers for HEY2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J125745 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.5 +0.4 363 5.3 PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 HEY2 LOC105377986
GH06J125788 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.7 +44.2 44233 6.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B FEZF1 ZNF2 YY1 ZNF766 NCOA7 HEY2 RNF217 HINT3 NCOA7-AS1 LOC105377986 TRMT11
GH06J125779 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 21.7 +33.8 33834 3.4 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NCOA7 TRE-CTC1-7 HEY2 CENPW TRMT11 RNF217-AS1 RNF217 NCOA7-AS1
GH06J125940 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +197.3 197252 9.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 YY1 ZNF766 RNF217 CENPW NCOA7-AS1 HEY2 LOC105377986 NCOA7 TRMT11 PIR42096 HINT3
GH06J125752 Enhancer 0.6 dbSUPER 24 +5.9 5922 1.3 CTCF FOXA2 RXRA RNF2 HLF MAX REST RAD21 FOXA1 YY1 HEY2 LOC105377986 HDDC2 HINT3 TRE-CTC1-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEY2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEY2 gene promoter:
  • Meis-1a
  • Meis-1
  • HOXA9B
  • HOXA9
  • MZF-1
  • CREB
  • MyoD
  • deltaCREB
  • Nkx6-1
  • NF-AT1

Genomic Locations for HEY2 Gene

Genomic Locations for HEY2 Gene
chr6:125,747,664-125,761,271
(GRCh38/hg38)
Size:
13,608 bases
Orientation:
Plus strand
chr6:126,068,810-126,082,415
(GRCh37/hg19)
Size:
13,606 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 StructureGene Density

RefSeq DNA sequence for HEY2 Gene

Proteins for HEY2 Gene

  • 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

No data available for DME Specific Peptides for HEY2 Gene

Domains & Families for HEY2 Gene

Gene Families for HEY2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HEY2 Gene

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

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.

Phenotypes From GWAS Catalog for HEY2 Gene

Gene Ontology (GO) - Molecular Function for HEY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding ISS,IEA --
GO:0000989 transcription factor activity, transcription factor binding IDA 21290414
GO:0001102 RNA polymerase II activating transcription factor binding IPI 16293227
GO:0003677 DNA binding IEA --
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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Aggresome (2)
  • Nuclear bodies (2)
See all subcellular structures

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 by RNA polymerase II 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 IEA,ISS --
genes like me logo Genes that share ontologies with HEY2: view

Drugs & Compounds for HEY2 Gene

No Compound Related Data Available

Transcripts for HEY2 Gene

mRNA/cDNA for HEY2 Gene

Unigene Clusters for HEY2 Gene

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

Clone 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

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

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 33
  • 99.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEY2 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEY2 34 33
  • 90.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEY2 34 33
  • 87.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hey2 16 34 33
  • 86.94 (n)
rat
(Rattus norvegicus)
Mammalia Hey2 33
  • 86.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HEY2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858839 33
  • 79.07 (n)
lizard
(Anolis carolinensis)
Reptilia HEY2 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hey2 33
  • 73.19 (n)
zebrafish
(Danio rerio)
Actinopterygii hey2 34 33 33
  • 70.47 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hey 34 35
  • 28 (a)
OneToMany
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)
Aminode:
Evolutionary constrained regions (ECRs) for HEY2: view image

Paralogs for HEY2 Gene

Paralogs for HEY2 Gene

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

  • HEY2_HUMAN
  • Q5TF93_HUMAN
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 Variation AA Info Type
rs1000054095 -- 125,749,026(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000261176 -- 125,756,126(+) C/T intron_variant
rs1000514239 -- 125,753,873(+) C/G intron_variant
rs1000547136 -- 125,753,532(+) A/G/T intron_variant
rs1000647912 -- 125,757,160(+) G/A 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)

Additional Variant Information for HEY2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

(7) MalaCards diseases for HEY2 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for HEY2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular and cellular biology 2001) 3 4 22 58
  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 (Mechanisms of development 1999) 2 3 4 58
  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 (International journal of oncology 2007) 3 22 58
  4. HEY2 mutations in malformed hearts. (PMID: 16329098) Reamon-Buettner SM … Borlak J (Human mutation 2006) 3 4 58
  5. CHF1/Hey2 suppresses SM-MHC promoter activity through an interaction with GATA-6. (PMID: 16293227) Shirvani S … Chin MT (Biochemical and biophysical research communications 2006) 3 4 58

Products for HEY2 Gene

Sources for HEY2 Gene

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