HES6 (hes family bHLH transcription factor 6)

Gene

• Entrez ID: 55502
• Gene name: Hes family bHLH transcription factor 6
• Gene symbol: HES6
• Synonyms (NCBI Gene): C-HAIRY1, HES-6, bHLHb41, bHLHc23
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: 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

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
MIRT573683	hsa-miR-1321	PAR-CLIP	20371350
MIRT573681	hsa-miR-4739	PAR-CLIP	20371350
MIRT573682	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT573680	hsa-miR-7113-5p	PAR-CLIP	20371350
MIRT573679	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT573678	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT573677	hsa-miR-331-3p	PAR-CLIP	20371350
MIRT573676	hsa-miR-4292	PAR-CLIP	20371350
MIRT573674	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT573675	hsa-miR-3192-5p	PAR-CLIP	20371350
MIRT573673	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT573672	hsa-miR-4784	PAR-CLIP	20371350
MIRT573671	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573670	hsa-miR-4510	PAR-CLIP	20371350
MIRT573669	hsa-miR-6127	PAR-CLIP	20371350
MIRT573668	hsa-miR-6129	PAR-CLIP	20371350
MIRT573667	hsa-miR-6130	PAR-CLIP	20371350
MIRT573666	hsa-miR-6133	PAR-CLIP	20371350
MIRT573665	hsa-miR-4683	PAR-CLIP	20371350
MIRT573664	hsa-miR-765	PAR-CLIP	20371350
MIRT573663	hsa-miR-1249-5p	PAR-CLIP	20371350
MIRT573662	hsa-miR-6797-5p	PAR-CLIP	20371350
MIRT573661	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT573660	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT573659	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT573658	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT573657	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT573655	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT573656	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT573654	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT573653	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT573652	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT573651	hsa-miR-3689c	PAR-CLIP	20371350
MIRT573650	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT573649	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT573685	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT573684	hsa-miR-4779	PAR-CLIP	20371350
MIRT573683	hsa-miR-1321	PAR-CLIP	20371350
MIRT573681	hsa-miR-4739	PAR-CLIP	20371350
MIRT573682	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT573680	hsa-miR-7113-5p	PAR-CLIP	20371350
MIRT573679	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT573678	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT573677	hsa-miR-331-3p	PAR-CLIP	20371350
MIRT573676	hsa-miR-4292	PAR-CLIP	20371350
MIRT573674	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT573675	hsa-miR-3192-5p	PAR-CLIP	20371350
MIRT573673	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT573672	hsa-miR-4784	PAR-CLIP	20371350
MIRT573671	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573670	hsa-miR-4510	PAR-CLIP	20371350
MIRT573669	hsa-miR-6127	PAR-CLIP	20371350
MIRT573668	hsa-miR-6129	PAR-CLIP	20371350
MIRT573667	hsa-miR-6130	PAR-CLIP	20371350
MIRT573666	hsa-miR-6133	PAR-CLIP	20371350
MIRT573665	hsa-miR-4683	PAR-CLIP	20371350
MIRT573664	hsa-miR-765	PAR-CLIP	20371350
MIRT573663	hsa-miR-1249-5p	PAR-CLIP	20371350
MIRT573662	hsa-miR-6797-5p	PAR-CLIP	20371350
MIRT573661	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT573660	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT573659	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT573658	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT573657	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT573655	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT573656	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT573654	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT573653	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT573652	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT573651	hsa-miR-3689c	PAR-CLIP	20371350
MIRT573650	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT573649	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT1044666	hsa-miR-146b-3p	CLIP-seq
MIRT1044667	hsa-miR-2276	CLIP-seq
MIRT1044668	hsa-miR-3173-5p	CLIP-seq
MIRT1044669	hsa-miR-4257	CLIP-seq
MIRT1044670	hsa-miR-874	CLIP-seq
MIRT1044669	hsa-miR-4257	CLIP-seq
MIRT1044671	hsa-miR-7	CLIP-seq
MIRT2009739	hsa-miR-378g	CLIP-seq
MIRT2242072	hsa-miR-1285	CLIP-seq
MIRT2242073	hsa-miR-148a	CLIP-seq
MIRT2242074	hsa-miR-148b	CLIP-seq
MIRT2242075	hsa-miR-152	CLIP-seq
MIRT2242076	hsa-miR-3187-5p	CLIP-seq
MIRT2242077	hsa-miR-326	CLIP-seq
MIRT2242078	hsa-miR-330-5p	CLIP-seq
MIRT2242079	hsa-miR-34a	CLIP-seq
MIRT2242080	hsa-miR-34c-5p	CLIP-seq
MIRT2009739	hsa-miR-378g	CLIP-seq
MIRT2242081	hsa-miR-4486	CLIP-seq
MIRT2242082	hsa-miR-449a	CLIP-seq
MIRT2242083	hsa-miR-449b	CLIP-seq
MIRT2242084	hsa-miR-612	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATOH1	Activation	17826772

Gene ontology (GO)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS	10851137
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	10851137
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 610331
• HGNC: 18254
• e!Ensembl: 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
  LENAEVLELTVRRVQGVLRGRAREREQLQAEASERFAAGYIQCMHEVHTFVSTCQAIDAT
  VAAELLNHLLESMPLREGSSFQDLLGDALAGPPRAPGRSGWPAGGAPGSPIPSPPGPGDD
  LCSDLEEAPEAELSQAPAEGPDLVPAALGSLTTAQIARSVWRPW

• Sequence length: 224

Pathways

KEGG:

Human papillomavirus infection

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	21037926		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	22982728		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	21785461		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27463014		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19891787, 30015909		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30015909	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18160400	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33546600	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12957362		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30015909		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30015909	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35934844	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21785461		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25734817	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19891787		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17696940, 29050307		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19891787, 30015909		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24737870, 25560400, 25864518		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19891787, 21785461, 30015909		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19891787		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	19481584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	19481584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	27463014		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32922167	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19891787, 21785461, 24737870, 27463014, 29050307		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21785461		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37882055	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24737870, 25560400, 25864518		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25864518, 32708551	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22982728		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33462406, 34198425	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21785461		★☆☆☆☆ Found in Text Mining only