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Aliases for HES6 Gene

Aliases for HES6 Gene

  • Hes Family BHLH Transcription Factor 6 2 3 5
  • Class B Basic Helix-Loop-Helix Protein 41 3 4
  • Hairy And Enhancer Of Split 6 3 4
  • C-HAIRY1 3 4
  • BHLHb41 3 4
  • Hairy And Enhancer Of Split 6 (Drosophila) 2
  • Transcription Cofactor HES-6 3
  • BHLHc23 3
  • HES-6 3

External Ids for HES6 Gene

Previous GeneCards Identifiers for HES6 Gene

  • GC02M237195
  • GC02M237828
  • GC02M239163
  • GC02M239433
  • GC02M238928
  • GC02M238812
  • GC02M230937
  • GC02M239166
  • GC02M239172
  • GC02M239187
  • GC02M239205

Summaries for HES6 Gene

Entrez Gene Summary for HES6 Gene

  • This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]

GeneCards Summary for HES6 Gene

HES6 (Hes Family BHLH Transcription Factor 6) is a Protein Coding gene. Among its related pathways are PI3K-Akt signaling pathway and Notch-mediated HES/HEY network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is HES1.

UniProtKB/Swiss-Prot for HES6 Gene

  • Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).

Gene Wiki entry for HES6 Gene

Additional gene information for HES6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HES6 Gene

Genomics for HES6 Gene

Regulatory Elements for HES6 Gene

Enhancers for HES6 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
GH02H238097 1.1 Ensembl ENCODE 9.9 +140.9 140855 5 HNRNPUL1 HDGF DEAF1 MAX RAD21 ZKSCAN1 ZFHX2 GLIS2 ZNF316 POLR2A ESPNL UBE2F KLHL30 SCLY TWIST2 RBM44 COL6A3 HES6 LOC105373953 LINC01940
GH02H238214 0.5 dbSUPER 21.3 +24.0 23976 3 HNF4G HNF4A RAD21 YY1 LOC643387 HES6 ERFE TRAF3IP1 RAMP1 LOC151174 GC02M238222 PIR41435 ILKAP
GH02H237963 1.7 FANTOM5 Ensembl ENCODE 5.6 +273.9 273887 6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ILKAP UBE2F SCLY ENSG00000227252 RAMP1 TRAF3IP1 LOC643387 ESPNL KLHL30 ASB1
GH02H238096 0.5 ENCODE 9.5 +144.1 144088 1 POLR2A USF2 ZIC2 ESPNL SCLY HES6
GH02H238306 0.6 dbSUPER 4.4 -65.9 -65881 1 HNF4G HNF4A REST ZNF384 RAD21 YY1 LOC643387 HES6 LOC105373961 TRAF3IP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HES6 on UCSC Golden Path with GeneCards custom track

Promoters for HES6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000132800 662 1601 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF143 FOS SP3

Genomic Location for HES6 Gene

Chromosome:
2
Start:
238,238,267 bp from pter
End:
238,240,662 bp from pter
Size:
2,396 bases
Orientation:
Minus strand

Genomic View for HES6 Gene

Genes around HES6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HES6 Gene

Proteins for HES6 Gene

  • Protein details for HES6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HZ4-HES6_HUMAN
    Recommended name:
    Transcription cofactor HES-6
    Protein Accession:
    Q96HZ4
    Secondary Accessions:
    • A8KAP6
    • B8ZZA9
    • Q53SN9
    • Q8N2J2
    • Q96T93
    • Q9P2S3

    Protein attributes for HES6 Gene

    Size:
    224 amino acids
    Molecular mass:
    24129 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts with HES1 (By similarity).

    Alternative splice isoforms for HES6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HES6 Gene

Post-translational modifications for HES6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HES6 Gene

Domains & Families for HES6 Gene

Gene Families for HES6 Gene

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

Protein Domains for HES6 Gene

Suggested Antigen Peptide Sequences for HES6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HZ4

UniProtKB/Swiss-Prot:

HES6_HUMAN :
  • 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.
Domain:
  • 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.
  • 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).
genes like me logo Genes that share domains with HES6: view

Function for HES6 Gene

Molecular function for HES6 Gene

UniProtKB/Swiss-Prot Function:
Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).

Phenotypes From GWAS Catalog for HES6 Gene

Gene Ontology (GO) - Molecular Function for HES6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10851137
GO:0003712 transcription cofactor activity ISS 10851137
genes like me logo Genes that share ontologies with HES6: view
genes like me logo Genes that share phenotypes with HES6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HES6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HES6 Gene

Localization for HES6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES6 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 HES6 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HES6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex ISS 10851137
genes like me logo Genes that share ontologies with HES6: view

Pathways & Interactions for HES6 Gene

genes like me logo Genes that share pathways with HES6: view

Pathways by source for HES6 Gene

2 BioSystems pathways for HES6 Gene
1 KEGG pathway for HES6 Gene

SIGNOR curated interactions for HES6 Gene

Activates:

Gene Ontology (GO) - Biological Process for HES6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10851137
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with HES6: view

Drugs & Compounds for HES6 Gene

No Compound Related Data Available

Transcripts for HES6 Gene

Unigene Clusters for HES6 Gene

Hairy and enhancer of split 6 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HES6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HES6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b
SP1:
SP2:
SP3:

Relevant External Links for HES6 Gene

GeneLoc Exon Structure for
HES6
ECgene alternative splicing isoforms for
HES6

Expression for HES6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HES6 Gene

mRNA differential expression in normal tissues according to GTEx for HES6 Gene

This gene is overexpressed in Pituitary (x4.8).

Protein differential expression in normal tissues from HIPED for HES6 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HES6 Gene



Protein tissue co-expression partners for HES6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HES6 Gene:

HES6

SOURCE GeneReport for Unigene cluster for HES6 Gene:

Hs.42949

Evidence on tissue expression from TISSUES for HES6 Gene

  • Nervous system(4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with HES6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HES6 Gene

Orthologs for HES6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HES6 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia HES6 33 34
  • 87.77 (n)
cow
(Bos Taurus)
Mammalia HES6 33 34
  • 87.5 (n)
rat
(Rattus norvegicus)
Mammalia Hes6 33
  • 84.01 (n)
mouse
(Mus musculus)
Mammalia Hes6 33 16 34
  • 83.93 (n)
oppossum
(Monodelphis domestica)
Mammalia HES6 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HES6 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves HES6 34
  • 26 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HES6 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hes6.1 33
  • 62.78 (n)
Str.1144 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.209 33
zebrafish
(Danio rerio)
Actinopterygii her13 33 34
  • 56.71 (n)
hes6 33 34
  • 52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6961 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9097 34
  • 17 (a)
OneToOne
Species where no ortholog for HES6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 HES6 Gene

ENSEMBL:
Gene Tree for HES6 (if available)
TreeFam:
Gene Tree for HES6 (if available)

Paralogs for HES6 Gene

Paralogs for HES6 Gene

(3) SIMAP similar genes for HES6 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with HES6: view

Variants for HES6 Gene

Sequence variations from dbSNP and Humsavar for HES6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000121338 -- 238,241,164(+) TGCCC(A/G)GCTCC upstream-variant-2KB
rs1000415945 -- 238,241,175(+) TGCCC(C/T)GGCGT upstream-variant-2KB
rs1000770338 -- 238,240,936(+) TCGGC(A/G)GAGAA upstream-variant-2KB
rs1000867630 -- 238,238,950(+) TCCAG(A/G)TCGGA reference, synonymous-codon, utr-variant-3-prime
rs1001158333 -- 238,239,996(+) CCCGC(A/G)GCCGC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HES6 Gene

Variant ID Type Subtype PubMed ID
dgv7349n54 CNV loss 21841781
esv21505 CNV loss 19812545
nsv1000252 CNV loss 25217958
nsv584761 CNV gain 21841781
nsv584764 CNV gain 21841781
nsv584766 CNV gain 21841781

Variation tolerance for HES6 Gene

Gene Damage Index Score: 2.60; 45.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HES6 Gene

Human Gene Mutation Database (HGMD)
HES6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES6 Gene

Disorders for HES6 Gene

Relevant External Links for HES6

Genetic Association Database (GAD)
HES6
Human Genome Epidemiology (HuGE) Navigator
HES6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HES6

No disorders were found for HES6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HES6 Gene

Publications for HES6 Gene

  1. The bHLH gene Hes6, an inhibitor of Hes1, promotes neuronal differentiation. (PMID: 10851137) Bae S … Kageyama R (Development (Cambridge, England) 2000) 2 3 4 22 60
  2. Expression and association analyses of promoter variants of the neurogenic gene HES6, a candidate gene for mood disorder susceptibility and antidepressant response. (PMID: 19481584) Glubb DM … Kennedy MA (Neuroscience letters 2009) 3 45 60
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 45 60
  4. 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 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60

Products for HES6 Gene

Sources for HES6 Gene

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