Aliases for HES2 Gene

Aliases for HES2 Gene

  • Hes Family BHLH Transcription Factor 2 2 3 5
  • BHLHb40 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 40 3 4
  • Hairy And Enhancer Of Split 2 3 4
  • Transcription Factor HES-2 3 4
  • Hairy And Enhancer Of Split 2 (Drosophila) 2
  • BHLHB40 4
  • HES2 5

External Ids for HES2 Gene

Previous GeneCards Identifiers for HES2 Gene

  • GC01M006049
  • GC01M006281
  • GC01U900784
  • GC01M006183
  • GC01M006406
  • GC01M005622
  • GC01M006472

Summaries for HES2 Gene

GeneCards Summary for HES2 Gene

HES2 (Hes Family BHLH Transcription Factor 2) is a Protein Coding gene. Among its related pathways are Notch Signaling Pathway (sino) and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription factor binding and double-stranded DNA binding. An important paralog of this gene is HES1.

UniProtKB/Swiss-Prot Summary for HES2 Gene

  • Transcriptional repressor of genes that require a bHLH protein for their transcription.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HES2 Gene

Genomics for HES2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HES2 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
GH01J006418 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.4 +5.2 5153 1.8 ZBTB10 ZIC2 VEZF1 RXRA SP2 ZFP91 TCF7L2 HNF4A POLR2A NRF1 HES2 RNF207 RNF207-AS1 RPL22 ESPN ACOT7 lnc-ACOT7-3 RF00017-020
GH01J006424 Promoter 1.2 EPDnew Ensembl 250.7 -0.4 -431 1 BHLHE40 ELF1 NONO SIN3B VEZF1 SIN3A KLF9 ZNF189 POLR2A EGR1 ESPN HES2 lnc-ACOT7-3 RNF207 RNF207-AS1 RPL22 ACOT7 MIR4252 TNFRSF25
GH01J006422 Promoter/Enhancer 1.2 Ensembl ENCODE 250.7 +1.2 1150 1.6 CTCF ZEB1 ZIC2 SIN3A REST ZNF639 TRIM22 ZNF341 ZEB2 SMC3 ESPN HES2 lnc-ACOT7-3 PHF13 NOL9 RNF207 RNF207-AS1 RPL22 THAP3 ACOT7
GH01J006598 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -177.5 -177455 7 CHD2 TBP MXD4 CEBPA MNT IKZF1 SMAD5 ZFP64 MBD2 POLR2A KLHL21 piR-53123 THAP3 RPL22 NOL9 HES2 ZBTB48 lnc-PHF13-1 piR-50712 PHF13
GH01J006783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -360.5 -360531 4 CHD2 TBP MXD4 SP1 NR2C1 MNT IKZF1 SMAD5 IRF2 ZFP64 CAMTA1 CAMTA1-DT NONHSAG000256.2 ZBTB48 CHD5 ACOT7 THAP3 PHF13 HES2 NOL9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HES2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HES2

Top Transcription factor binding sites by QIAGEN in the HES2 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • c-Myc
  • E47
  • LCR-F1
  • Max
  • N-Myc
  • Pax-4a

Genomic Locations for HES2 Gene

Latest Assembly
chr1:6,412,418-6,424,670
(GRCh38/hg38)
Size:
12,253 bases
Orientation:
Minus strand

Previous Assembly
chr1:6,475,292-6,479,979
(GRCh37/hg19 by Entrez Gene)
Size:
4,688 bases
Orientation:
Minus strand

chr1:6,472,478-6,484,730
(GRCh37/hg19 by Ensembl)
Size:
12,253 bases
Orientation:
Minus strand

Genomic View for HES2 Gene

Genes around HES2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HES2 Gene

Proteins for HES2 Gene

  • Protein details for HES2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y543-HES2_HUMAN
    Recommended name:
    Transcription factor HES-2
    Protein Accession:
    Q9Y543
    Secondary Accessions:
    • A2RTZ9
    • Q96EN4
    • Q9Y542

    Protein attributes for HES2 Gene

    Size:
    173 amino acids
    Molecular mass:
    18470 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.

    Alternative splice isoforms for HES2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HES2 Gene

Post-translational modifications for HES2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HES2 Gene

No data available for DME Specific Peptides for HES2 Gene

Domains & Families for HES2 Gene

Gene Families for HES2 Gene

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

Protein Domains for HES2 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • Orange
ProtoNet:

Suggested Antigen Peptide Sequences for HES2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33803 fis, clone CTONG2000561, highly similar to Transcription factor HES-2 (A2RTZ9_HUMAN)
  • Hairy and enhancer of split 2 (HES2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y543

UniProtKB/Swiss-Prot:

HES2_HUMAN :
  • Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
Domain:
  • Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
  • The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
genes like me logo Genes that share domains with HES2: view

Function for HES2 Gene

Molecular function for HES2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of genes that require a bHLH protein for their transcription.

Phenotypes From GWAS Catalog for HES2 Gene

Gene Ontology (GO) - Molecular Function for HES2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with HES2: view
genes like me logo Genes that share phenotypes with HES2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HES2 Gene

Localization for HES2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES2 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 HES2 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for HES2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with HES2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HES2 Gene

Pathways & Interactions for HES2 Gene

PathCards logo

SuperPathways for HES2 Gene

genes like me logo Genes that share pathways with HES2: view

Pathways by source for HES2 Gene

1 Sino Biological pathway for HES2 Gene
1 KEGG pathway for HES2 Gene

Gene Ontology (GO) - Biological Process for HES2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0009952 anterior/posterior pattern specification IBA 21873635
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HES2: view

No data available for SIGNOR curated interactions for HES2 Gene

Drugs & Compounds for HES2 Gene

No Compound Related Data Available

Transcripts for HES2 Gene

mRNA/cDNA for HES2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES2

Alternative Splicing Database (ASD) splice patterns (SP) for HES2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b
SP1: - -
SP2: - - - - - - -
SP3:
SP4:
SP5: -
SP6: - - - - -

Relevant External Links for HES2 Gene

GeneLoc Exon Structure for
HES2

Expression for HES2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HES2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HES2 Gene

This gene is overexpressed in Esophagus - Mucosa (x13.1), Vagina (x8.2), Skin - Not Sun Exposed (Suprapubic) (x7.5), Skin - Sun Exposed (Lower leg) (x6.8), and Cervix - Ectocervix (x4.4).

Protein differential expression in normal tissues from HIPED for HES2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HES2 Gene



Protein tissue co-expression partners for HES2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HES2

SOURCE GeneReport for Unigene cluster for HES2 Gene:

Hs.118727

mRNA Expression by UniProt/SwissProt for HES2 Gene:

Q9Y543-HES2_HUMAN
Tissue specificity: Expressed in placenta, pancreatic cancer, colon cancer with RER, cervical cancer, and in head and neck tumors.

Evidence on tissue expression from TISSUES for HES2 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with HES2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HES2 Gene

Orthologs for HES2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HES2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HES2 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HES2 30 31
  • 82.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hes2 30
  • 81.36 (n)
Mouse
(Mus musculus)
Mammalia Hes2 30 17 31
  • 81.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HES2 30 31
  • 80.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HES2 31
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HES2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 21 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 35 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hes2 30
  • 60.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii hes2.1 30 31
  • 58.1 (n)
OneToMany
hes2.2 31
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta h 31
  • 18 (a)
ManyToMany
Side 31
  • 13 (a)
ManyToMany
dpn 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToOne
Species where no ortholog for HES2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 HES2 Gene

ENSEMBL:
Gene Tree for HES2 (if available)
TreeFam:
Gene Tree for HES2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HES2: view image

Paralogs for HES2 Gene

Paralogs for HES2 Gene

(3) SIMAP similar genes for HES2 Gene using alignment to 3 proteins:

  • HES2_HUMAN
  • K7EJN2_HUMAN
  • K7EJQ0_HUMAN
genes like me logo Genes that share paralogs with HES2: view

Variants for HES2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HES2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2235687 - p.Pro139Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HES2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HES2 Gene

Variant ID Type Subtype PubMed ID
dgv2n27 CNV loss 19166990
dgv80n54 CNV loss 21841781
esv25412 CNV gain+loss 19812545
nsv1009548 CNV loss 25217958
nsv508836 CNV insertion 20534489
nsv545240 CNV loss 21841781
nsv7880 CNV gain+loss 18304495
nsv954048 CNV deletion 24416366

Variation tolerance for HES2 Gene

Gene Damage Index Score: 3.36; 53.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HES2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES2 Gene

Disorders for HES2 Gene

Additional Disease Information for HES2

No disorders were found for HES2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HES2 Gene

Publications for HES2 Gene

  1. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PMID: 15254753) Katoh M … Katoh M (International journal of oncology 2004) 2 3 4 23
  2. 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 23
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for HES2 Gene

Sources for HES2 Gene