Aliases for HES6 Gene
Aliases for HES6 Gene
External Ids for HES6 Gene
- HGNC: 18254
- Entrez Gene: 55502
- Ensembl: ENSG00000144485
- OMIM: 610331
- UniProtKB: Q96HZ4
Previous GeneCards Identifiers for HES6 Gene
- GC02M237195
- GC02M237828
- GC02M239163
- GC02M239433
- GC02M238928
- GC02M238812
- GC02M230937
- GC02M239166
- GC02M239172
- GC02M239187
- GC02M239205
Summaries 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 Notch signaling pathway (KEGG) 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).
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 |
|---|---|---|---|---|---|---|---|---|
| GH02G238097 | 1.1 | Ensembl ENCODE | 9.9 | +140.9 | 140855 | 5.1 | HNRNPUL1 HDGF PKNOX1 AGO1 DEAF1 RAD21 GLIS2 EGR1 FOS EGR2 | ESPNL UBE2F KLHL30 SCLY HES6 |
| GH02G238214 | 0.5 | dbSUPER | 21.4 | +24.0 | 23976 | 3.4 | HNF4G ZBTB33 HNF4A RAD21 YY1 | ENSG00000225057 HES6 ERFE TRAF3IP1 RAMP1 LOC151174 PIR41435 GC02M238222 ILKAP |
| GH02G237963 | 1.7 | FANTOM5 Ensembl ENCODE | 5.6 | +273.9 | 273887 | 6.2 | MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 | UBE2F SCLY ILKAP RAMP1 ESPNL KLHL30 ASB1 HES6 LRRFIP1 GC02P237964 |
| GH02G238096 | 0.5 | ENCODE | 9.5 | +144.1 | 144088 | 1.1 | POLR2A TEAD4 NR3C1 ZIC2 | ESPNL SCLY HES6 |
| GH02G238308 | 0.6 | dbSUPER | 4.4 | -65.9 | -65862 | 1.0 | CTCF NCOR1 SCRT2 HNF4G HNF4A ZNF384 RAD21 YY1 | ENSG00000225057 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
- Transcription factor binding sites by QIAGEN in the HES6 gene promoter:
Regulatory Element Products
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:
-
- 2q37.3 by Ensembl
- 2q37.3 by Entrez Gene
- 2q37.3 by HGNC
HES6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for HES6 Gene
Post-translational modifications for HES6 Gene
Other Protein References for HES6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- AP55325PU-N
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- Novus Biologicals Antibodies for HES6
- Invitrogen Antibodies for HES6
- antibodies-online Antibodies for HES6: See all 65
- GeneTex HES6 antibody for HES6
-
Santa Cruz Biotechnology (SCBT) Antibodies for HES6
Protein Products
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OriGene Purified Proteins for HES6
- Search Origene for MassSpec and Protein Over-expression Lysates for HES6
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- antibodies-online Proteins for HES6: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HES6
Assay Products
No data available for DME Specific Peptides for HES6 Gene
Domains & Families for HES6 Gene
Gene Families for HES6 Gene
Protein Domains for HES6 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HES6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96HZ4UniProtKB/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).
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).
| 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 |
Phenotypes for HES6 Gene
- GenomeRNAi human phenotypes for HES6:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased POU5F1-GFP protein expression
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
Animal Model Products
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-
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CRISPR Products
-
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-
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miRNA for HES6 Gene
- miRTarBase miRNAs that target HES6
-
- hsa-mir-215-5p (MIRT024636)
- hsa-mir-192-5p (MIRT026430)
- hsa-mir-320a (MIRT044433)
- hsa-mir-6780a-5p (MIRT573649)
- hsa-mir-6779-5p (MIRT573650)
- hsa-mir-3689c (MIRT573651)
- hsa-mir-3689b-3p (MIRT573652)
- hsa-mir-3689a-3p (MIRT573653)
- hsa-mir-30b-3p (MIRT573654)
- hsa-mir-6799-5p (MIRT573655)
- hsa-mir-1273h-5p (MIRT573656)
- hsa-mir-6883-5p (MIRT573657)
- hsa-mir-6785-5p (MIRT573658)
- hsa-mir-4728-5p (MIRT573659)
- hsa-mir-149-3p (MIRT573660)
- hsa-mir-7106-5p (MIRT573661)
- hsa-mir-6797-5p (MIRT573662)
- hsa-mir-1249-5p (MIRT573663)
- hsa-mir-765 (MIRT573664)
- hsa-mir-4683 (MIRT573665)
- hsa-mir-6133 (MIRT573666)
- hsa-mir-6130 (MIRT573667)
- hsa-mir-6129 (MIRT573668)
- hsa-mir-6127 (MIRT573669)
- hsa-mir-4510 (MIRT573670)
- hsa-mir-4419a (MIRT573671)
- hsa-mir-4784 (MIRT573672)
- hsa-mir-3150b-3p (MIRT573673)
- hsa-mir-6791-5p (MIRT573674)
- hsa-mir-3192-5p (MIRT573675)
- hsa-mir-4292 (MIRT573676)
- hsa-mir-331-3p (MIRT573677)
- hsa-mir-6837-5p (MIRT573678)
- hsa-mir-4685-5p (MIRT573679)
- hsa-mir-7113-5p (MIRT573680)
- hsa-mir-4739 (MIRT573681)
- hsa-mir-4756-5p (MIRT573682)
- hsa-mir-1321 (MIRT573683)
- hsa-mir-4779 (MIRT573684)
- hsa-mir-6888-5p (MIRT573685)
miRNA Products
- Search ViGene Biosciences for HES6
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for HES6
-
ViGene Biosciences adenoviral particle packaged cDNA for HES6 gene
-
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-
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Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12964) for HES6
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005667 | transcription factor complex | ISS | 10851137 |
Pathways & Interactions for HES6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch signaling pathway (KEGG) | ||
| 2 | Notch-mediated HES/HEY network | ||
Pathways by source for HES6 Gene
2 BioSystems pathways for HES6 Gene
Interacting Proteins 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 | -- |
Transcripts for HES6 Gene
mRNA/cDNA for HES6 Gene
- (3) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (204) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HES6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HES6
-
Santa Cruz Biotechnology (SCBT) CRISPR for HES6
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miRNA Products
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Inhibitory RNA Products
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Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12964) for HES6
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: |
Expression for HES6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for HES6 Gene
This gene is overexpressed in Pituitary (x4.8).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HES6 Gene:
HES6SOURCE GeneReport for Unigene cluster for HES6 Gene:
Hs.42949Evidence on tissue expression from TISSUES for HES6 Gene
- Nervous system(4)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for HES6
-
OriGene qPCR primer pairs and template standards for HES6
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | HES6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HES6 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hes6 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hes6 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HES6 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HES6 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HES6 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HES6 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hes6.1 34 |
|
||
| Str.1144 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.209 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | her13 34 35 |
|
||
| hes6 34 35 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6961 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9097 35 |
|
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)
Paralogs for HES6 Gene
(3) SIMAP similar genes for HES6 Gene using alignment to 7 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES6 Gene
Disorders for HES6 Gene
Relevant External Links for 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
- The bHLH gene Hes6, an inhibitor of Hes1, promotes neuronal differentiation. (PMID: 10851137) Bae S.-K. … Kageyama R. (Development 2000) 2 3 4 22 64
- A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 46 64
- 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 D.M. … Kennedy M.A. (Neurosci. Lett. 2009) 3 46 64
- 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. (Int. J. Oncol. 2007) 3 22 64
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
Products for HES6 Gene
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- antibodies-online Antibodies for HES6: See all 65
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- GeneTex HES6 antibody for HES6
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- ViGene Biosciences adenoviral particle packaged cDNA for HES6 gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HES6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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