Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55502
Gene name Gene Name - the full gene name approved by the HGNC.
Hes family bHLH transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HES6
Synonyms (NCBI Gene) Gene synonyms aliases
C-HAIRY1, HES-6, bHLHb41, bHLHc23
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
Summary Summary of gene provided in NCBI Entrez 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 encode
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024636 hsa-miR-215-5p Microarray 19074876
MIRT026430 hsa-miR-192-5p Microarray 19074876
MIRT044433 hsa-miR-320a CLASH 23622248
MIRT573685 hsa-miR-6888-5p PAR-CLIP 20371350
MIRT573684 hsa-miR-4779 PAR-CLIP 20371350
Transcription factors
Transcription factor Regulation Reference
ATOH1 Activation 17826772
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610331 18254 ENSG00000144485
Protein
UniProt ID Q96HZ4
Protein name Transcription cofactor HES-6 (C-HAIRY1) (Class B basic helix-loop-helix protein 41) (bHLHb41) (Hairy and enhancer of split 6)
Protein 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, allowin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 26 77 Helix-loop-helix DNA-binding domain Domain
PF07527 Hairy_orange 95 134 Hairy Orange Domain
Sequence
MAPPAAPGRDRVGREDEDGWETRGDRKARKPLVEKKRRARINESLQELRLLLAGAEVQAK
LENAEVLELTVRRVQGV
LRGRAREREQLQAEASERFAAGYIQCMHEVHTFVSTCQAIDAT
VAAELLNHLLESMP
LREGSSFQDLLGDALAGPPRAPGRSGWPAGGAPGSPIPSPPGPGDD
LCSDLEEAPEAELSQAPAEGPDLVPAALGSLTTAQIARSVWRPW
Sequence length 224
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Human papillomavirus infection  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Irritable Bowel Syndrome Irritable bowel syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30015909
Calcinosis Cutis Associate 33462406
Carcinogenesis Associate 18160400
Colitis Ulcerative Associate 33546600
Colorectal Neoplasms Stimulate 30015909
Coronary Artery Disease Associate 35934844
Hypoxia Associate 25734817
Immunoglobulin Light chain Amyloidosis Associate 32922167
Multiple Myeloma Associate 32922167
Neoplasm Metastasis Associate 30015909, 37882055