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.	7942
Gene name Gene Name - the full gene name approved by the HGNC.	Transcription factor EB
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TFEB
Synonyms (NCBI Gene) Gene synonyms aliases	ALPHATFEB, BHLHE35, TCFEB
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023048	hsa-miR-124-3p	Microarray	18668037
MIRT030033	hsa-miR-26b-5p	Microarray	19088304
MIRT735164	hsa-miR-30b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Mass spectrometry, Immunofluorescence, qRT-PCR, In situ hybridization	32764647
MIRT1420477	hsa-miR-3184	CLIP-seq
MIRT1420478	hsa-miR-3609	CLIP-seq
MIRT1420479	hsa-miR-3616-3p	CLIP-seq
MIRT1420480	hsa-miR-423-5p	CLIP-seq
MIRT1420481	hsa-miR-4436b-3p	CLIP-seq
MIRT1420482	hsa-miR-4733-3p	CLIP-seq
MIRT1420483	hsa-miR-520g	CLIP-seq
MIRT1420484	hsa-miR-520h	CLIP-seq
MIRT1420485	hsa-miR-548ah	CLIP-seq
MIRT1420486	hsa-miR-128	CLIP-seq
MIRT1420487	hsa-miR-148a	CLIP-seq
MIRT1420488	hsa-miR-148b	CLIP-seq
MIRT1420489	hsa-miR-152	CLIP-seq
MIRT1420490	hsa-miR-3179	CLIP-seq
MIRT1420491	hsa-miR-377	CLIP-seq
MIRT1420492	hsa-miR-3944-5p	CLIP-seq
MIRT1420493	hsa-miR-4293	CLIP-seq
MIRT2126302	hsa-miR-24	CLIP-seq
MIRT1420477	hsa-miR-3184	CLIP-seq
MIRT2126303	hsa-miR-3944-3p	CLIP-seq
MIRT1420480	hsa-miR-423-5p	CLIP-seq
MIRT2126304	hsa-miR-4437	CLIP-seq
MIRT2395685	hsa-miR-1291	CLIP-seq
MIRT2395686	hsa-miR-328	CLIP-seq
MIRT2395687	hsa-miR-331-3p	CLIP-seq
MIRT2395688	hsa-miR-3689d	CLIP-seq
MIRT2395689	hsa-miR-4290	CLIP-seq
MIRT2395690	hsa-miR-4749-3p	CLIP-seq

Show/Hide all(57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19556463
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
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: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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001892	Process	Embryonic placenta development	ISS
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	19556463, 21617040, 22343943, 22576015, 22692423, 25720963, 32612235, 32753672, 35662396, 36749723
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	2115126
GO:0005515	Function	Protein binding	IPI	15507434, 22343943, 28514442, 28552616, 33961781, 35271311, 36931259, 37057673
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23401004, 25720963, 32612235, 32753672, 35662396
GO:0005634	Component	Nucleus	IDA	19556463, 21617040, 22343943, 22576015, 22692423, 27278822, 28552616
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	2115126
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	19556463, 27278822
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	22343943, 22692423, 23401004, 32612235
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA	21617040, 22576015, 23401004, 25720963, 32612235, 32753672, 35662396
GO:0005829	Component	Cytosol	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	2115126
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006914	Process	Autophagy	IEA
GO:0006959	Process	Humoral immune response	IEA
GO:0006959	Process	Humoral immune response	ISS
GO:0007040	Process	Lysosome organization	IDA	32612235, 32753672, 35662396
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	IMP	23434374
GO:0009267	Process	Cellular response to starvation	IDA	21617040
GO:0010508	Process	Positive regulation of autophagy	IDA	21617040, 22576015
GO:0010508	Process	Positive regulation of autophagy	IMP	23434374
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	22576015, 22692423
GO:0032418	Process	Lysosome localization	IMP	29146937
GO:0034198	Process	Cellular response to amino acid starvation	IDA	22343943, 22576015, 22692423
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	21617040, 22343943, 22576015, 22692423, 27278822, 29146937
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19556463
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0140367	Process	Antibacterial innate immune response	IDA	32753672, 35662396
GO:1905671	Process	Regulation of lysosome organization	IDA	22692423, 35662396
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600744	11753	ENSG00000112561

Protein

UniProt ID

P19484

Protein name

Transcription factor EB (Class E basic helix-loop-helix protein 35) (bHLHe35)

Protein function

Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:25

PDB

7UX2 , 7UXC , 7UXH , 7Y62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15951	MITF_TFEB_C_3_N	4 → 162	MITF/TFEB/TFEC/TFE3 N-terminus	Family
PF00010	HLH	236 → 289	Helix-loop-helix DNA-binding domain	Domain
PF11851	DUF3371	321 → 473	Domain of unknown function (DUF3371)	Family

Sequence

MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQLGGPPTPAINTPVHFQ
SPPPVPGEVLKVQSYLENPTSYHLQQSQHQKVREYLSETYGNKFAAHISPAQGSPKPPPA
ASPGVRAGHVLSSSAGNSAPNSPMAMLHIGSNPERELDDVIDNIMRLDDVLGYINPEMQM
PNTLPLSSSHLNVYSSDPQVTASLVGVTSSSCPADLTQKRELTDAESRALAKERQKKDNH
NLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGTILKASVDYIRRMQKDLQKSRELEN
HSRRLEMTNKQLWLRIQELEMQARVHGLPTTSPSGMNMAELAQQVVKQELPSEEGPGEAL
MLGAEVPDPEPLPALPPQAPLPLPTQPPSPFHHLDFSHSLSFGGREDEGPPGYPEPLAPG
HGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMSPEASKASSRRSSFSMEEGDVL

Sequence length

476

Interactions

View interactions

	KEGG
	Calcium signaling pathway Mitophagy - animal

Show/Hide Unknown Diseases (3)

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.
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma Oxyphilic	Associate	35980471
Alzheimer Disease	Associate	27813694, 28945989, 32208437
Atherosclerosis	Associate	35090378
Breast Neoplasms	Associate	34663249, 35898781
Calcinosis Cutis	Associate	27565001
Carcinoma	Associate	33664427
Carcinoma Hepatocellular	Associate	33960270
Carcinoma Renal Cell	Associate	18278810, 19396149, 21602817, 22446944, 22892601, 23817689, 23826432, 24618616, 26654961, 27565001, 27864122, 28338654, 28840857, 29052596, 30206412 View all (16 more)
Cardiomyopathy Dilated	Associate	36056063
Cataract	Associate	34872443
Chondrosarcoma	Associate	29035891
Colorectal Neoplasms	Associate	26965516
Communicable Diseases	Associate	33176151
Corneal dystrophy Avellino type	Associate	32667742
Cystic Disease Of Lung	Associate	33664427
Cystinosis	Associate	26994576
Death	Associate	37936170
Dementia	Associate	32208437
Diabetic Nephropathies	Associate	33043774
Drug Related Side Effects and Adverse Reactions	Associate	35053335
Emanuel syndrome	Associate	22892601, 30622287, 32217839
Emanuel syndrome	Stimulate	27565001, 29052596, 30206412
Epidermolysis bullosa with pyloric atresia	Associate	33460450
Essential Hypertension	Associate	28682143
Familial renal cell carcinoma	Associate	34148064
Fatty Liver	Associate	34581652
Gastritis Atrophic	Associate	25551587, 30155999
Gaucher Disease	Associate	23393155, 31519738
Glioblastoma	Associate	25482944
Glucose Intolerance	Associate	36217215
Glutamate formiminotransferase deficiency	Associate	31720741
Glycogen Storage Disease Type II	Associate	28629821
Huntington Disease	Associate	38066314
Hyperammonemia	Associate	30035657
Intervertebral Disc Degeneration	Associate	37605006
Intervertebral disc disease	Associate	37605006
Iron Overload	Associate	33410225
Kidney Diseases	Associate	26994576, 33410225
Kidney Failure Chronic	Associate	18278810
Kidney Neoplasms	Associate	12719541, 23038766, 31600176
Leukemia	Associate	39214303
Leukemia Myeloid Acute	Associate	33860275, 39214303
Light Fixation Seizure Syndrome	Associate	27085974
Limbal Stem Cell Deficiency	Associate	27153139
Lysosomal Storage Diseases	Associate	23393155, 26994576, 33176151, 33410225, 37890378
Lysosomal Storage Diseases	Stimulate	32667742
Melanoma	Associate	30705290, 32881934, 37160873
Mitochondrial Diseases	Associate	26251447, 26509433, 36217215, 37269887
Multiple Myeloma	Associate	23221771
Muscular Disorders Atrophic	Associate	27085974
Necrosis	Associate	27565001
Neoplasm Metastasis	Associate	26654961, 29052596, 35562857
Neoplasm Metastasis	Stimulate	32753474
Neoplasms	Associate	12719541, 21602817, 23826432, 26654961, 27459917, 28547982, 29992949, 30653408, 31600176, 32251007, 33208882, 34643458, 37269887, 39196068
Neoplasms	Inhibit	24004452, 33860275, 37890378
Neoplasms	Stimulate	28837150
Neurodegenerative Diseases	Associate	29992949, 30653408
Neurologic Manifestations	Associate	33176151
Ovarian Neoplasms	Associate	35053335, 37087023
Pancreatic Neoplasms	Associate	24471499, 30086361, 39196068
Pancreatitis	Associate	36217215
Parkinson Disease	Associate	26509433
Prostatic Neoplasms	Associate	27977328
Proteinuria	Inhibit	33410225
Sclerosis	Associate	27864122
Stomach Neoplasms	Associate	25551587, 30155999, 32753474
Tay Sachs Disease	Associate	23393155
Tertiary Lymphoid Structures	Stimulate	35562857
Triple Negative Breast Neoplasms	Associate	36372230
Urinary Bladder Neoplasms	Associate	37890378
X Linked Combined Immunodeficiency Diseases	Associate	31600176

TFEB (transcription factor EB)