TFE3 - transcription factor binding to IGHM enhancer 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7030

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 References 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 References 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 References 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

HLH: Helix-loop-helix DNA-binding domain (347 - 400)

DUF3371

DUF3371: Domain of unknown function (DUF3371) (432 - 574)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
HY-P85822 Transcription Factor E3 Antibody (YA5514) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Bovin,

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
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14419 TFE3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174536 Human TFE3 mRNA / Unkown
HY-RS19388 Tfe3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25880 Tfe3 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others TFE3 NCBI