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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 signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

GeneHancer (GH) Regulatory Elements for HES6 Gene

Promoters and enhancers for HES6 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
GH02I238239 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.0 -1037 5.2 PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF143 ZNF548 HES6 LOC643387 LOC151174 ILKAP TRAF3IP1 ERFE PER2 LOC105373961 ESPNL GC02M238308
GH02I238097 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 9.9 +140.9 140854 5.1 HDGF HNRNPUL1 USF1 MAX DEAF1 RAD21 ZKSCAN1 ZFHX2 GLIS2 ZNF316 ESPNL UBE2F KLHL30 SCLY TWIST2 RBM44 COL6A3 HES6 LOC105373953 LINC01940
GH02I237963 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 5.6 +273.9 273887 6.2 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A UBE2F UBE2F-SCLY ILKAP SCLY RAMP1 ESPNL KLHL30 ASB1 HES6 LRRFIP1
GH02I238214 Enhancer 0.5 dbSUPER 21.4 +24.0 23975 3.4 HNF4G HNF4A RAD21 YY1 LOC643387 HES6 ERFE TRAF3IP1 RAMP1 LOC151174 GC02M238222 PIR41435 ILKAP
GH02I238096 Enhancer 0.5 ENCODE 9.5 +144.1 144087 1.1 USF1 POLR2A SIN3A USF2 ZIC2 ESPNL SCLY HES6 UBE2F-SCLY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HES6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HES6 gene promoter:

Genomic Locations for HES6 Gene

Genomic Locations for HES6 Gene
chr2:238,238,267-238,240,662
(GRCh38/hg38)
Size:
2,396 bases
Orientation:
Minus strand
chr2:239,146,908-239,149,303
(GRCh37/hg19)

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 DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity 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

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 by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10851137
GO:0006357 regulation of transcription by RNA polymerase II 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

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

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 Variation AA Info Type
rs1000121338 -- 238,241,164(-) G/A upstream_transcript_variant
rs1000415945 -- 238,241,175(-) C/T upstream_transcript_variant
rs1000770338 -- 238,240,936(-) G/A upstream_transcript_variant
rs1000867630 -- 238,238,950(-) G/A 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1001158333 -- 238,239,996(-) G/A 5_prime_UTR_variant

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)

Additional Variant Information for HES6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HES6 Gene

Additional Disease Information for HES6

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

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 58
  2. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 44 58
  3. 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 44 58
  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 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for HES6 Gene

Sources for HES6 Gene

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