HES5 Gene (Protein Coding)

Hes Family BHLH Transcription Factor 5

GC01M002528
GIFtS:
35
This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008] See more...

Aliases for HES5 Gene

Aliases for HES5 Gene

  • Hes Family BHLH Transcription Factor 5 2 3 5
  • BHLHb38 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 38 3 4
  • Hairy And Enhancer Of Split 5 3 4
  • Transcription Factor HES-5 3 4
  • Hairy And Enhancer Of Split 5 (Drosophila) 2
  • BHLHB38 4
  • HES5 5

External Ids for HES5 Gene

Previous GeneCards Identifiers for HES5 Gene

  • GC01U900022
  • GC01M002495
  • GC01M002450
  • GC01M001739
  • GC01M002460

Summaries for HES5 Gene

Entrez Gene Summary for HES5 Gene

  • This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]

GeneCards Summary for HES5 Gene

HES5 (Hes Family BHLH Transcription Factor 5) is a Protein Coding gene. Diseases associated with HES5 include Large Intestine Adenoma and Alagille Syndrome 1. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein dimerization activity. An important paralog of this gene is HES1.

UniProtKB/Swiss-Prot Summary for HES5 Gene

  • Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Gene Wiki entry for HES5 Gene

Additional gene information for HES5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HES5 Gene

Genomics for HES5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HES5 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
GH01J002522 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +3.5 3531 8.4 TBP ZBTB10 SP1 FEZF1 SIX5 NR2C1 IKZF1 SMAD5 ETS1 IRF2 PANK4 HES5 lnc-HES5-2 GABRD ENSG00000224387 ENSG00000272420 ENSG00000272106 FNDC10 TMEM240 MMEL1
GH01J001685 Enhancer 1 ENCODE dbSUPER 5.9 +844.2 844204 2.3 CEBPA IKZF1 CEBPB MAFF SAP130 EP300 CTBP1 RARA ZNF316 FOSL1 CDK11B HES5 ANKRD65 SLC35E2B piR-35778-001
GH01J003094 Enhancer 0.4 Ensembl dbSUPER 5.6 -563.8 -563846 0.8 SPI1 PRDM16-DT PRDM16 HES5 HSALNG0000306 MIR4251 ARHGEF16
GH01J002319 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.4 +208.4 208446 3.2 ZIC2 RXRA TEAD3 RAD21 RAD51 CTCF CBX2 SP1 RFX1 FOS lnc-PEX10-8 ENSG00000272106 PLCH2 LOC100129534 HES5 ENSG00000287356 MORN1 SKI
GH01J003093 Enhancer 0.3 Ensembl dbSUPER 5.6 -563.0 -563047 0.4 PRDM16 PRDM16-DT HES5 HSALNG0000306 MIR4251 ARHGEF16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HES5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HES5

Top Transcription factor binding sites by QIAGEN in the HES5 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • GATA-1

Genomic Locations for HES5 Gene

Latest Assembly
chr1:2,528,745-2,530,554
(GRCh38/hg38)
Size:
1,810 bases
Orientation:
Minus strand

Previous Assembly
chr1:2,460,184-2,461,702
(GRCh37/hg19 by Entrez Gene)
Size:
1,519 bases
Orientation:
Minus strand

chr1:2,460,184-2,461,684
(GRCh37/hg19 by Ensembl)
Size:
1,501 bases
Orientation:
Minus strand

Genomic View for HES5 Gene

Genes around HES5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HES5 Gene

Proteins for HES5 Gene

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  • Protein details for HES5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TA89-HES5_HUMAN
    Recommended name:
    Transcription factor HES-5
    Protein Accession:
    Q5TA89
    Secondary Accessions:
    • B9DI85

    Protein attributes for HES5 Gene

    Size:
    166 amino acids
    Molecular mass:
    18226 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.

neXtProt entry for HES5 Gene

Post-translational modifications for HES5 Gene

  • Ubiquitination at Lys134
  • Modification sites at PhosphoSitePlus

Other Protein References for HES5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HES5 Gene

Domains & Families for HES5 Gene

Gene Families for HES5 Gene

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

Protein Domains for HES5 Gene

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

Suggested Antigen Peptide Sequences for HES5 Gene

GenScript: Design optimal peptide antigens:
  • Hairy and enhancer of split 5 (HES5_HUMAN)
  • HES5 protein (Q5M8T3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TA89

UniProtKB/Swiss-Prot:

HES5_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 HES5: view

Function for HES5 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for HES5 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Phenotypes From GWAS Catalog for HES5 Gene

Gene Ontology (GO) - Molecular Function for HES5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding 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,ISS --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with HES5: view
genes like me logo Genes that share phenotypes with HES5: view

Animal Models for HES5 Gene

MGI Knock Outs for HES5:

Animal Models for research

miRNA for HES5 Gene

miRTarBase miRNAs that target HES5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HES5 Gene

Localization for HES5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES5 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 HES5 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HES5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with HES5: view

Pathways & Interactions for HES5 Gene

genes like me logo Genes that share pathways with HES5: view

Gene Ontology (GO) - Biological Process for HES5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,ISS --
GO:0002062 NOT chondrocyte differentiation ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007155 cell adhesion IEA,ISS --
genes like me logo Genes that share ontologies with HES5: view

No data available for SIGNOR curated interactions for HES5 Gene

Drugs & Compounds for HES5 Gene

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No Compound Related Data Available

Transcripts for HES5 Gene

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mRNA/cDNA for HES5 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 HES5

Alternative Splicing Database (ASD) splice patterns (SP) for HES5 Gene

No ASD Table

Relevant External Links for HES5 Gene

GeneLoc Exon Structure for
HES5

Expression for HES5 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HES5 Gene

mRNA expression in normal human tissues for HES5 Gene
mRNA expression by GTEx for HES5 GenemRNA expression by BioGPS for HES5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HES5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.8), Brain - Amygdala (x4.4), and Brain - Hypothalamus (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HES5

SOURCE GeneReport for Unigene cluster for HES5 Gene:

Hs.57971

mRNA Expression by UniProt/SwissProt for HES5 Gene:

Q5TA89-HES5_HUMAN
Tissue specificity: Expressed in fetal heart and brain tumors.

Evidence on tissue expression from TISSUES for HES5 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with HES5: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HES5 Gene

Orthologs for HES5 Gene

This gene was present in the common ancestor of animals.

Orthologs for HES5 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia HES5 30 31
  • 90.1 (n)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia HES5 30 31
  • 90.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HES5 30 31
  • 89.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hes5 30
  • 85.14 (n)
Mouse
(Mus musculus)
 Mammalia Hes5 30 17 31
  • 84.74 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia HES5 31
  • 70 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HES5 30 31
  • 69.23 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HES5 31
  • 56 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hes5.1 30
  • 64.12 (n)
Str.11260 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC53782 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC100149066 30
  • 65.25 (n)
her2 31
  • 47 (a)
 OneToOne
hes5 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Her 31
  • 26 (a)
 OneToMany
E(spl) 31
  • 21 (a)
 OneToMany
HLHmbeta 31
  • 20 (a)
 OneToMany
HLHmdelta 31
  • 20 (a)
 OneToMany
HLHm7 31
  • 20 (a)
 OneToMany
HLHmgamma 31
  • 18 (a)
 OneToMany
HLHm5 31
  • 17 (a)
 OneToMany
HLHm3 31
  • 15 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lin-22 31
  • 21 (a)
 OneToOne
Species where no ortholog for HES5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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)

Evolution for HES5 Gene

ENSEMBL:
Gene Tree for HES5 (if available)
TreeFam:
Gene Tree for HES5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HES5: view image

Paralogs for HES5 Gene

Paralogs for HES5 Gene

(2) SIMAP similar genes for HES5 Gene using alignment to 2 proteins:

  • HES5_HUMAN
  • Q5M8T3_HUMAN
genes like me logo Genes that share paralogs with HES5: view

Variants for HES5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HES5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs150791867 Benign: not provided 2,530,132(-) G/A
NM_001010926.4(HES5):c.33C>T (p.Leu11=) 		SYNONYMOUS
rs201410123 Likely Benign: not provided 2,529,877(-) C/T
NM_001010926.4(HES5):c.189G>A (p.Glu63=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HES5 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 HES5 Gene

Variant ID Type Subtype PubMed ID
nsv1 OTHER inversion 15895083
nsv470684 CNV loss 18288195
nsv545076 CNV gain 21841781
nsv545077 CNV gain 21841781
nsv545080 CNV loss 21841781
nsv7171 OTHER inversion 18451855
nsv818222 CNV loss 17921354
nsv823920 CNV gain 20364138
nsv824031 CNV gain 20364138
nsv951557 CNV deletion 24416366

Variation tolerance for HES5 Gene

Gene Damage Index Score: 1.84; 34.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HES5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES5 Gene

Disorders for HES5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HES5 Gene - From: COP

Disorder Aliases PubMed IDs
large intestine adenoma
  • adenoma of large intestine
alagille syndrome 1
  • algs1
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HES5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HES5

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HES5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HES5 Gene

Publications for HES5 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PMID: 15254753) Katoh M … Katoh M (International journal of oncology 2004) 3 4
  3. NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis. (PMID: 32055024) Luiken S … Roessler S (Oncogene 2020) 3
  4. Impact of cytosine methylation on DNA binding specificities of human transcription factors. (PMID: 28473536) Yin Y … Taipale J (Science (New York, N.Y.) 2017) 3
  5. HES5 promotes cellular proliferation of non-small cell lung cancer through STAT3 signaling. (PMID: 27878283) Gu S … Wu C (Oncology reports 2017) 3

ExternalLinks

View latest publications for HES5 gene in Mastermind

Products for HES5 Gene

Sources for HES5 Gene