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Aliases for HEY2 Gene

Aliases for HEY2 Gene

  • Hes-Related Family BHLH Transcription Factor With YRPW Motif 2 2 3
  • 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
  • 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 GPCR and Downstream signaling events of B Cell Receptor (BCR). 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 HEYL.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEY2 Gene

Genomics for HEY2 Gene

Regulatory Elements for HEY2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HEY2 Gene at MOPED

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

No data available for DME Specific Peptides for HEY2 Gene

Domains & Families for HEY2 Gene

Gene Families for HEY2 Gene

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 :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the HEY family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
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.

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 --
GO:0000988 transcription factor activity, protein binding IDA 21290414
GO:0001102 RNA polymerase II activating transcription factor binding IPI 16293227
GO:0003677 DNA binding --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEY2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for HEY2 Gene COMPARTMENTS Subcellular localization image for HEY2 gene
Compartment Confidence
nucleus 4
extracellular 1
plasma membrane 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 --
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

Pathways by source for HEY2 Gene

PCR Array Products

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 --
GO:0001570 vasculogenesis ISS --
GO:0003150 muscular septum morphogenesis ISS --
GO:0003151 outflow tract morphogenesis 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

Unigene Clusters for HEY2 Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEY2

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

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for HEY2 Gene Hs.144287

genes like me logo Genes that share expression patterns with HEY2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia HEY2 35
  • 90.31 (n)
  • 98.22 (a)
HEY2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEY2 35
  • 87.58 (n)
  • 90.85 (a)
HEY2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hey2 35
  • 86.94 (n)
  • 93.77 (a)
Hey2 16
Hey2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HEY2 35
  • 99.6 (n)
  • 100 (a)
HEY2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hey2 35
  • 86.84 (n)
  • 94.36 (a)
oppossum
(Monodelphis domestica)
Mammalia HEY2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEY2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858839 35
  • 79.07 (n)
  • 88.79 (a)
lizard
(Anolis carolinensis)
Reptilia HEY2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hey2 35
  • 73.19 (n)
  • 80.42 (a)
zebrafish
(Danio rerio)
Actinopterygii hey2 35
  • 70.47 (n)
  • 76.85 (a)
hey2 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hey 37
  • 56 (a)
Hey 36
  • 28 (a)
OneToMany
Species with no ortholog for HEY2:
  • 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 MAF
rs1268078 -- 125,760,579(-) TAAAG(A/C)AGCAC utr-variant-3-prime
rs564050036 -- 125,754,363(+) GTCTA(A/G)TGAGA intron-variant
rs563352486 -- 125,752,418(+) TATAC(C/T)GTATC intron-variant
rs563313651 -- 125,755,372(+) CCTTC(A/G)AAGAA intron-variant
rs563087465 -- 125,759,366(+) CCTGC(C/T)CGCAG reference, missense

Variation tolerance for HEY2 Gene

Residual Variation Intolerance Score: 55.56% 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

HapMap Linkage Disequilibrium report
HEY2
Human Gene Mutation Database (HGMD)
HEY2

PCR Panel Products

  • Copy Number PCR Panels: 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

(7) 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
pediatric ependymoma
  • familial ependymoma
labyrinthitis
  • unspecified labyrinthitis
alagille syndrome
  • alagille-watson syndrome
- elite association
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. Gene expression profiling provides insights into the pathways involved in solid pseudopapillary neoplasm of the pancreas. (PMID: 19235837) Cavard C. … Terris B. (J. Pathol. 2009) 23 67
  2. Inhibition of Notch pathway prevents osteosarcoma growth by cell cycle regulation. (PMID: 19455146) Tanaka M. … Komiya S. (Br. J. Cancer 2009) 23 67
  3. Notch signaling in cardiac development. (PMID: 18497317) Niessen K. … Karsan A. (Circ. Res. 2008) 23 67
  4. Hypoxia-mediated activation of Dll4-Notch-Hey2 signaling in endothelial progenitor cells and adoption of arterial cell fate. (PMID: 17045587) Diez H. … Gessler M. (Exp. Cell Res. 2007) 23 67
  5. Notch signaling in gastrointestinal tract (review). (PMID: 17143535) Katoh M. … Katoh M. (Int. J. Oncol. 2007) 23 67

Products for HEY2 Gene

Sources for HEY2 Gene

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