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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79365
Gene name Gene Name - the full gene name approved by the HGNC.	Basic helix-loop-helix family member e41
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BHLHE41
Synonyms (NCBI Gene) Gene synonyms aliases	BHLHB3, DEC2, FNSS1, SHARP1, hDEC2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL`s transactivation of PER1. This gene is believe

Show/Hide all(50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018496	hsa-miR-335-5p	Microarray	18185580
MIRT044939	hsa-miR-186-5p	CLASH	23622248
MIRT821326	hsa-miR-105	CLIP-seq
MIRT821327	hsa-miR-1304	CLIP-seq
MIRT821328	hsa-miR-15a	CLIP-seq
MIRT821329	hsa-miR-15b	CLIP-seq
MIRT821330	hsa-miR-16	CLIP-seq
MIRT821331	hsa-miR-1827	CLIP-seq
MIRT821332	hsa-miR-195	CLIP-seq
MIRT821333	hsa-miR-424	CLIP-seq
MIRT821334	hsa-miR-4470	CLIP-seq
MIRT821335	hsa-miR-4661-3p	CLIP-seq
MIRT821336	hsa-miR-4711-3p	CLIP-seq
MIRT821337	hsa-miR-497	CLIP-seq
MIRT821338	hsa-miR-501-3p	CLIP-seq
MIRT821339	hsa-miR-502-3p	CLIP-seq
MIRT821340	hsa-miR-511	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT1922591	hsa-miR-125a-5p	CLIP-seq
MIRT1922592	hsa-miR-125b	CLIP-seq
MIRT1922593	hsa-miR-3667-3p	CLIP-seq
MIRT1922594	hsa-miR-4319	CLIP-seq
MIRT1922595	hsa-miR-4732-3p	CLIP-seq
MIRT1922596	hsa-miR-670	CLIP-seq
MIRT1942784	hsa-miR-1229	CLIP-seq
MIRT821328	hsa-miR-15a	CLIP-seq
MIRT821329	hsa-miR-15b	CLIP-seq
MIRT821330	hsa-miR-16	CLIP-seq
MIRT821332	hsa-miR-195	CLIP-seq
MIRT1942785	hsa-miR-342-3p	CLIP-seq
MIRT1942786	hsa-miR-3658	CLIP-seq
MIRT821333	hsa-miR-424	CLIP-seq
MIRT821337	hsa-miR-497	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT1942784	hsa-miR-1229	CLIP-seq
MIRT2181527	hsa-miR-1238	CLIP-seq
MIRT2181528	hsa-miR-1255a	CLIP-seq
MIRT2181529	hsa-miR-1255b	CLIP-seq
MIRT2181530	hsa-miR-1269	CLIP-seq
MIRT2181531	hsa-miR-1269b	CLIP-seq
MIRT2181532	hsa-miR-129-5p	CLIP-seq
MIRT2181533	hsa-miR-3074-3p	CLIP-seq
MIRT2181534	hsa-miR-3145-3p	CLIP-seq
MIRT2181535	hsa-miR-3162-3p	CLIP-seq
MIRT1942785	hsa-miR-342-3p	CLIP-seq
MIRT2181536	hsa-miR-4328	CLIP-seq
MIRT2181537	hsa-miR-4520b-3p	CLIP-seq
MIRT2181538	hsa-miR-4529-3p	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT2181539	hsa-miR-548p	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
CLOCK	Activation	14672706
GLI1	Activation	24165159
GLI2	Unknown	24165159

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	14672706, 15193144
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	19786558
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19786558, 22801492
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007623	Process	Circadian rhythm	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA
GO:0010832	Process	Negative regulation of myotube differentiation	IEA
GO:0010832	Process	Negative regulation of myotube differentiation	ISS
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IEA
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	ISS
GO:0032922	Process	Circadian regulation of gene expression	IBA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0042826	Function	Histone deacetylase binding	ISS
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	15193144
GO:0043425	Function	BHLH transcription factor binding	ISS
GO:0043426	Function	MRF binding	IEA
GO:0043426	Function	MRF binding	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15193144
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048511	Process	Rhythmic process	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:0070888	Function	E-box binding	IDA	14672706, 15193144
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
606200	16617	ENSG00000123095

Protein

UniProt ID

Q9C0J9

Protein name

Class E basic helix-loop-helix protein 41 (bHLHe41) (Class B basic helix-loop-helix protein 3) (bHLHb3) (Differentially expressed in chondrocytes protein 2) (hDEC2) (Enhancer-of-split and hairy-related protein 1) (SHARP-1)

Protein function

Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	45 → 100	Helix-loop-helix DNA-binding domain	Domain
PF07527	Hairy_orange	130 → 171	Hairy Orange	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.

Sequence

MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRI
NECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSL
KSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAVATQFLPTPQLL
TQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDS
GYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAA
AAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAA
AYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLS
PPPEKAGAAAATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPESSAQEDPSQPGKE
AP

Sequence length

482

Interactions

View interactions

	KEGG
	Circadian rhythm

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Short QT Syndrome	Short sleep, familial natural, 1	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bipolar Disorder	Associate	36481223
Breast Neoplasms	Inhibit	25242400
Breast Neoplasms	Associate	30651373, 32073238, 33101542, 34215221, 40508038
Carcinoma Renal Cell	Stimulate	30816499
Carcinoma Renal Cell	Associate	31487856
Depressive Disorder	Associate	40508038
Depressive Disorder Major	Associate	23671070
Endometrial Neoplasms	Associate	24918449, 26391953
Heart Failure	Associate	36699999
Hypoxia	Stimulate	18345027
Hypoxia	Associate	20236182, 22572381, 24918449, 30816499, 32073238
Insulin Resistance	Associate	34745571
Lymphatic Metastasis	Inhibit	24918449
Lymphoma Non Hodgkin	Associate	31487856
Melanoma Cutaneous Malignant	Stimulate	37373286
Multiple Myeloma	Associate	33544757
Narcolepsy	Associate	34745571
Neoplasm Metastasis	Inhibit	24554706
Neoplasm Metastasis	Associate	30651373
Neoplasms	Associate	24918449, 25876658, 27840924, 32073238
Neoplasms	Inhibit	26391953
Parkinson Disease	Associate	34745571
Sleep Deprivation	Associate	25083013
Sleep Wake Disorders	Associate	25083013, 36137075

BHLHE41 (basic helix-loop-helix family member e41)