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  2. TFE3 - transcription factor binding to IGHM enhancer 3 Gene

TFE3 - transcription factor binding to IGHM enhancer 3 Gene

中文名称:与 IGHM 增强子 3 结合的转录因子

种属: Homo sapiens

同用名: TFEA; RCCP2; RCCX1; MRXSPF; bHLHe33

基因 ID: 7030 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一个包含基本螺旋-环-螺旋结构域的转录因子,该转录因子结合基因启动子中的 MUE3 型 E-box 序列。编码的蛋白质促进转化生长因子 beta (TGF-beta) 信号下游基因的表达。该基因可能参与肾细胞癌和其他癌症的染色体易位,导致融合蛋白的产生。易位伙伴包括 PRCC (乳头状肾细胞癌) 、NONO (不含 POU 结构域、八聚体结合) 和 ASPSCR1 (肺泡软部肉瘤染色体区域,候选 1) 等基因。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
24448649 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
24448649 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15507434 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lysosome organization IDA
IDA: 通过直接分析推断
24448649 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
29146937 GOA
involved in positive regulation of cell adhesion IMP
IMP: 通过突变表型推断
21209915 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
21209915 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
22692423 GOA
located in cytosol IDA
IDA: 通过直接分析推断
24448649 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
24448649 GOA
is active in nucleus IDA
IDA: 通过直接分析推断
24448649 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22692423 GOA
located in nucleus IMP
IMP: 通过突变表型推断
21209915 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TFE3 蛋白结构

HLH

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

DUF3371

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

  • 0
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  • 200
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  • 500
  • 575 a.a.
蛋白主名 其他名称

transcription factor E3

class E basic helix-loop-helix protein 33

TFE3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TFE3 P19532 LAMTOR3 Homo sapiens Q9UHA4 32296183
种属内
TFE3 P19532 IPO8 Homo sapiens O15397 26168401
种属内
TFE3 P19532 SUMO1 Homo sapiens P63165 15507434
种属间: 跨种属相互作用 种属内: 同种属相互作用

TFE3 抗体

目录号 产品名 应用 反应物种
HY-P81763 Transcription Factor E3 Antibody (YA1508) IHC-P, ICC/IF, FC Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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