Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	388585
Gene name Gene Name - the full gene name approved by the HGNC.	Hes family bHLH transcription factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HES5
Synonyms (NCBI Gene) Gene synonyms aliases	bHLHb38
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the norma

Show/Hide all(2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439161	hsa-let-7c-5p	3'LIFE	25074381
MIRT439161	hsa-let-7c-5p	3'LIFE	25074381

Show/Hide all(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0005575	Component	Cellular_component	ND
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007155	Process	Cell adhesion	ISS
GO:0007219	Process	Notch signaling pathway	IMP	19682396, 19855400
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007420	Process	Brain development	ISS
GO:0008134	Function	Transcription factor binding	NAS	17611704
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	17849174
GO:0009952	Process	Anterior/posterior pattern specification	IBA	21873635
GO:0014003	Process	Oligodendrocyte development	ISS
GO:0021537	Process	Telencephalon development	ISS
GO:0021781	Process	Glial cell fate commitment	ISS
GO:0021861	Process	Forebrain radial glial cell differentiation	IEA
GO:0021915	Process	Neural tube development	ISS
GO:0022010	Process	Central nervous system myelination	ISS
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0031641	Process	Regulation of myelination	ISS
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0043010	Process	Camera-type eye development	ISS
GO:0045595	Process	Regulation of cell differentiation	ISS
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048469	Process	Cell maturation	ISS
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IGI	19855400
GO:0048708	Process	Astrocyte differentiation	ISS
GO:0048712	Process	Negative regulation of astrocyte differentiation	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA	21873635
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0051216	Process	Cartilage development	IDA	17093926
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0065003	Process	Protein-containing complex assembly	ISS
GO:0072049	Process	Comma-shaped body morphogenesis	IEA
GO:0072050	Process	S-shaped body morphogenesis	IEA
GO:0072086	Process	Specification of loop of Henle identity	IEA
GO:0072282	Process	Metanephric nephron tubule morphogenesis	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396
GO:2000974	Process	Negative regulation of pro-B cell differentiation	ISS
GO:2000978	Process	Negative regulation of forebrain neuron differentiation	IEA

MIM	HGNC	e!Ensembl
607348	19764	ENSG00000197921

Protein

UniProt ID

Q5TA89

Protein name

Transcription factor HES-5 (Class B basic helix-loop-helix protein 38) (bHLHb38) (Hairy and enhancer of split 5)

Protein function

Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	17 → 73	Helix-loop-helix DNA-binding domain	Domain
PF07527	Hairy_orange	87 → 122	Hairy Orange	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal heart and brain tumors. {ECO:0000269|PubMed:15254753}.

Sequence

MAPSTVAVELLSPKEKNRLRKPVVEKMRRDRINSSIEQLKLLLEQEFARHQPNSKLEKAD
ILEMAVSYLKHSKAFVAAAGPKSLHQDYSEGYSWCLQEAVQFLTLHAASDTQMKLLYHFQ
RPPAAPAAPAKEPKAPGAAPPPALSAKATAAAAAAHQPACGLWRPW

Sequence length

166

Interactions

View interactions

	KEGG		Reactome
	Notch signaling pathway Human papillomavirus infection Pathways in cancer Breast cancer		NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain		21127729	ClinVar

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	20091184
Atypical Squamous Cells of the Cervix	Associate	17388915
Azoospermia Nonobstructive	Associate	33602558
Breast Neoplasms	Associate	20030805, 22971117, 33461604
Carcinogenesis	Associate	17388915
Carcinoma Hepatocellular	Stimulate	27420998
Carcinoma Renal Cell	Associate	32432737
Diabetic Retinopathy	Associate	28924151
Leukemia B Cell	Associate	23637910
Multiple Myeloma	Associate	27463014
Neoplasm Metastasis	Associate	37882055
Neoplasms	Associate	17388915, 21663414, 22899462
Neoplasms	Inhibit	28924151
Neuroblastoma	Associate	21744479
Osteosarcoma	Associate	37882055
Ovarian Neoplasms	Associate	20091184
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23637910
Prostatic Intraepithelial Neoplasia	Associate	26341090
Prostatic Neoplasms	Associate	25560400
Prostatic Neoplasms Castration Resistant	Associate	36246971
Prostatitis	Associate	24937670, 25560400, 26341090
Rhabdomyosarcoma	Associate	22419069
Uterine Cervical Neoplasms	Associate	17388915

HES5 (hes family bHLH transcription factor 5)