TFE3 - transcription factor binding to IGHM enhancer 3 Gene

Homo sapiens

Also known as TFEA; RCCP2; RCCX1; MRXSPF; bHLHe33

Gene ID: 7030 | Gene type: protein coding

About TFE3

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,028,726-49,043,357 (from NCBI)

This gene has 5 transcripts (splice variants), 257 orthologues, 3 paralogues and is associated with 84 phenotypes. Ubiquitous expression in fat (RPKM 31.1), adrenal (RPKM 17.6) and 25 other tissues.

Summary

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and Other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among Other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

TFE3 Products(2)

mRNA	Protein	Name
NM_001282142.2	NP_001269071.1	transcription factor E3 isoform 2
NM_006521.6	NP_006512.2	transcription factor E3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	24448649	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	24448649	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15507434	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in lysosome organization	IDA IDA: Inferred from direct assay	24448649	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	29146937	GOA
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	21209915	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21209915	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22692423	GOA
located in cytosol	IDA IDA: Inferred from direct assay	24448649	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	24448649	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	24448649	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22692423	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	21209915	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TFE3 Protein Structure

HLH

DUF3371

0
100
200
300
400
500
575 a.a.

Protein Preferred Names

Protein Names

transcription factor E3

class E basic helix-loop-helix protein 33

TFE3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TFE3	P19532	LAMTOR3	Homo sapiens	Q9UHA4	Validated Y2H	32296183
Intra	TFE3	P19532	IPO8	Homo sapiens	O15397	Anti Tag CoIP	26168401
Intra	TFE3	P19532	SUMO1	Homo sapiens	P63165	Anti Tag CoIP	15507434

Cross: Cross-species interaction Intra: Intraspecies interaction

TFE3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81763	Transcription Factor E3 Antibody (YA1508)	IHC-P, ICC/IF, FC	Human

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies

MRXSPF

Intellectual Developmental Disorder, X-Linked Syndromic, With Pigmentary Mosaicism And Coarse Facies

Renal Cell Carcinoma, Xp11-Associated

RCCX1	Mit Family Translocation Renal Cell Carcinoma
Renal Cell Carcinoma, Papillary, 1	Carcinoma Associated With Mitf/Tfe Translocation
Translocation Renal Cell Carcinoma	Renal Cell Carcinoma Xp11-Associated
Renal Cell Carcinoma Papillary 1	Carcinoma, Renal Cell, Xp11-Associated

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Epithelioid Hemangioendothelioma

Hemangioendothelioma Epithelioid

Epithelioid Hemangioendothelioma, Malignant

Sarcoma

Connective And Soft Tissue Neoplasm	Tumor Of Soft Tissue And Skeleton
Sarcomas	Sarcoma - Category

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Perivascular Epithelioid Cell Tumor

Pecoma	Perivascular Epithelioid Cell Neoplasms
Neoplasm With Perivascular Epithelioid Cell Differentiation

Pycnodysostosis

Pyknodysostosis	PKND
Pycd	Toulouse-Lautrec Syndrome

Chromophil Adenoma Of The Kidney

Papillary Adenoma Of The Kidney

Uterus Perivascular Epithelioid Cell Tumor

Uterine Corpus Pecoma

Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma

Perivascular Tumor

Malignant Perivascular Cancer

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Clear Cell Sarcoma

Sarcoma, Clear Cell	Adult Soft Part Clear Cell Sarcoma
Clear Cell Sarcoma Of Soft Parts	Malignant Melanoma Of Soft Parts
Malignant Melanoma Of Soft Tissues	Melanoma, Malignant, Of Soft Parts
Sarcoma Clear Cell

Nephroma

Benign Nephroma

Angiomyolipoma

Angiomyolipoma Of Kidney

Pyridoxine-Responsive Sideroblastic Anemia

Malignant Epithelioid Hemangioendothelioma

Epithelioid Hemangioendothelioma, Malignant

Histiocytoid Hemangioma

Angiolymphoid Hyperplasia With Eosinophilia	Epithelioid Haemangioma
Epithelioid Hemangioma

Metanephric Adenoma

Renal Adenoma

Renal Cell Adenoma

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome	Fibrofolliculomas With Trichodiscomas And Acrochordons
BHD	Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculoma Familial	Bhd Syndrome
Birt Hogg Dube Syndrome	Hornstein-Birt-Hogg-Dubé Syndrome
Multiple Fibrofolliculomas

Waardenburg Syndrome, Type 2a

Waardenburg Syndrome Type 2a	WS2A
Waardenburg Syndrome, Type Iia	Waardenburg Syndrome Without Dystopia Canthorum
Ws2	Waardenburg Syndrome Type Iia
Waardenburg Syndrome 2a

Mucinous Tubular And Spindle Renal Cell Carcinoma

Mucinous Tubular And Spindle Cell Renal Carcinoma

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

Malignant Granular Cell Myoblastoma

Malignant Granular Cell Tumor	Granular Cell Tumor, Malignant
Malignant Granular Cell Neoplasm

Collecting Duct Carcinoma

Kidney Medullary Carcinoma	Renal Medullary Carcinoma
Bdc	Bellini Carcinoma
Bellini Duct Carcinoma	Cdc
Collecting Duct Carcinoma Of The Kidney	Renal Cell Adenocarcinoma
Carcinoma Of Renal Collecting Duct	Renal Carcinoma, Collecting Duct Type
Renal Cell Carcinoma	Bellini'S Duct Carcinoma
Renal Collecting Duct Carcinoma	Adenocarcinoma Of Kidney

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Hepatic Angiomyolipoma

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Ossifying Fibromyxoid Tumor

Ossifying Fibromyxoid Tumour

Ossifying Fibromyxoma

Myoblastoma

Benign Granular Cell Tumor

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Renal Oncocytoma

Oncocytoma, Renal	Oncocytoma Of Kidney
Renal Epithelial Oncocytic Tumor	Oncocytoma Kidney
Oncocytoma Renal	Kidney Oncocytoma

Nephrogenic Adenofibroma

Metanephric Adenofibroma

Malignant Hemangioma

Vascular Cancer

Blood Vessel Tumors	Malignant Vascular Neoplasm
Renal Vein Leiomyosarcoma	Vascular Neoplasms
Blood Vessel Neoplasm	Blood Vessel Tumor
Blood Vessel Tumour Disorder	Haemangiomatous Tumour
Leiomyosarcoma Of The Renal Vein	Malignant Great Vessel Tumor
Malignant Tumor Of Pulmonary Artery	Malignant Tumor Of Pulmonary Vein
Malignant Vascular Tumor	Neoplasm Of Great Vessel
Pulmonary Artery Malignant Neoplasm	Pulmonary Vein Malignant Neoplasm
Vascular Tissue Neoplasm	Vascular Tumors
Blood Vessel Cancer	Neoplasms, Vascular Tissue
Malignant Neoplasm Of Great Vessels

Muscle Cancer

Myosarcoma	Malignant Neoplasm Of Muscle
Malignant Tumor Of Muscle	Malignant Tumor Of The Muscle
Muscle Neoplasms	Myomatous Neoplasm

Papillary Adenoma

Glandular Papilloma

Adenoma

Xanthogranulomatous Pyelonephritis

Pyelonephritis, Xanthogranulomatous

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Eosinophilic Variant Of Chromophobe Renal Cell Carcinoma

Familial Renal Papillary Carcinoma

Hereditary Papillary Renal Carcinoma

Papillary Renal Cancer Hereditary

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Dermis Tumor

Dermis Tumour	Neoplasm Of Dermis
Tumor Of Dermis	Tumour Of Dermis

Adrenal Neuroblastoma

Neuroblastoma Of Adrenal Gland	Adrenal Gland Neuroblastoma
Neuroblastoma Nos

Tietz Albinism-Deafness Syndrome

Tietz Syndrome	Albinism-Deafness Of Tietz
Hypopigmentation/Deafness Of Tietz	Tietze'S Syndrome
TADS	Costochondral Junction Syndrome
Costochondritis	Tietze Syndrome
Hypopigmentation-Deafness Syndrome	Costalchondritis
Slipping Rib Syndrome	Tietze'S Disease
Chondropathia Tuberosa	Albinism And Complete Nerve Deafness
Tietz'S Syndrome	Hypopigmentation-Hearing Loss Syndrome
Costal Chondritis	Abnormality Of The Costochondral Junction

Hereditary Renal Cell Carcinoma

Sideroblastic Anemia

Anemia Sideroblastic	Anemia, Sideroblastic
Anemia, Hypochromic With Iron Loading

Autosomal Dominant Intellectual Developmental Disorder 19

Autosomal Dominant Non-Syndromic Intellectual Disability 19	Autosomal Dominant Mental Retardation 19
Mrd19

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor	Mesenchymal Tumor
Mesenchymal Tumors

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Childhood Angiosarcoma

Paediatric Angiosarcoma	Paediatric Hemangiosarcoma
Pediatric Angiosarcoma	Pediatric Hemangiosarcoma

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma	Chromophobe Carcinoma Of Kidney
Kidney Chromophobe	Renal Cell Carcinoma, Chromophobe Cell
Crcc	Chrcc
Chromophobe Renal Cell Adenocarcinoma	Chromophobe Renal Carcinoma
Chromophobe Carcinoma

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis

ECTD14	Ectodermal Dysplasia 14
Ectn14

Respiratory System Benign Neoplasm

Chondrosarcoma, Extraskeletal Myxoid

Extraskeletal Myxoid Chondrosarcoma	Emc
Myxoid Extraosseous Chondrosarcoma

Myxofibrosarcoma

Fibromyxosarcoma	Fibromyxoid Sarcoma
Myxoid Malignant Fibrous Histiocytoma	Dermatofibrosarcoma Protuberans, Myxoid

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma	Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma Alveolar	RMS2
Rmsa	Rhabdomyosarcoma 2, Alveolar
Alveolar Childhood Rhabdomyosarcoma	Arms
Rhabdomyosarcoma, Type 2

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma	Liposarcoma, Myxoid
Mrcls	Myxoliposarcoma
MXLIPO	Liposarcoma Myxoid
Liposarcoma

Hobnail Hemangioma

Sclerosing Hepatic Carcinoma

Sclerosing Hepatocellular Carcinoma

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14419	TFE3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TFE3	VGNC	VGNC:78325
Rattus norvegicus	TFE3	RGD	RGD:1559642
Canis familiaris	TFE3	VGNC	VGNC:47293
Felis catus	TFE3	VGNC	VGNC:66116
Bos taurus	TFE3	VGNC	VGNC:35787
Mus musculus	TFE3	MGD	MGI:98511