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  2. ERG - ETS transcription factor ERG Gene

ERG - ETS transcription factor ERG Gene

中文名称:ETS 转录因子 ERG

种属: Homo sapiens

同用名: p55; erg-3

基因 ID: 2078 | 基因类型: protein coding

关于 ERG

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:38,367,261-38,661,783 (from NCBI)

This gene has 15 transcripts (splice variants), 160 orthologues, 28 paralogues and is associated with 120 phenotypes. Broad expression in fat (RPKM 7.8), spleen (RPKM 6.9) and 23 other tissues.

功能概要

该基因编码成红细胞转化特异性 (ETS) 转录因子家族的成员。该家族的所有成员都是胚胎发育、细胞增殖、分化、血管生成、炎症和细胞凋亡的关键调节因子。该基因编码的蛋白质主要在细胞核中表达。它包含一个 ETS DNA 结合结构域和一个 PNT (尖头) 结构域,该结构域与嵌合癌蛋白的自缔合有关。这种蛋白质是血小板粘附到内皮下层、诱导血管细胞重塑所必需的。它还调节造血功能以及巨核细胞的分化和成熟。该基因参与染色体易位,产生不同的融合基因产物,如前列腺癌中的 TMPSSR2-ERG 和 NDRG1-ERG,尤文氏肉瘤中的 EWS-ERG 和急性髓性白血病中的 FUS-ERG。已经报道了组合使用三个替代启动子和多个替代剪接事件产生的超过两打的转录本变体,但尚未确定其中许多变体的全长性质。[RefSeq 提供,2014 年 4 月]

This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and Apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate Cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]

ERG 基因产物(9)

mRNA Protein Name
NM_001136154.1 NP_001129626.1 transcriptional regulator ERG isoform 3
NM_001136155.1 NP_001129627.1 transcriptional regulator ERG isoform 4
NM_001243428.1 NP_001230357.1 transcriptional regulator ERG isoform 3
NM_001243429.1 NP_001230358.1 transcriptional regulator ERG isoform 5
NM_001243432.2 NP_001230361.1 transcriptional regulator ERG isoform 6
NM_001291391.1 NP_001278320.1 transcriptional regulator ERG isoform 7
NM_001331025.2 NP_001317954.1 transcriptional regulator ERG isoform 8
NM_004449.4 NP_004440.1 transcriptional regulator ERG isoform 2
NM_182918.4 NP_891548.1 transcriptional regulator ERG isoform 1

ERG 蛋白结构

SAM_PNT

SAM_PNT: Sterile alpha motif (SAM)/Pointed domain (116 - 197)

Ets

Ets: Ets-domain (310 - 392)

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  • 479 a.a.
蛋白主名 其他名称

transcriptional regulator ERG

ERG, ETS transcription factor

重组 ERG 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71733 ERG Protein, Human (P.pastoris, His) P11308-3 (M1-Y486) ≥95%

关联疾病

疾病名称 别名
Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci Syndrome

Neurofibromatosis, Type I

Von Recklinghausen Disease

Neurofibromatosis 1

Neurofibromatosis, Type 1

NF1

Neurofibromatosis, Peripheral Type

Neurofibromatosis Type I

Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

Familial Spinal Neurofibromatosis

Fsnf

Peripheral Neurofibromatosis

Von Recklinghausen'S Neurofibromatosis

Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion

Neurofibromatosis Peripheral Type

Von Recklinghausen Syndrome

Neurofibromatosis Type 1

Von Recklinghausen Neuropathy

Nf1 - [Neurofibromatosis Type 1]

Recklinghausen Disease

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma

Liposarcoma, Myxoid

Mrcls

Myxoliposarcoma

MXLIPO

Liposarcoma Myxoid

Liposarcoma

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

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
Bos taurus ERG VGNC VGNC:50174
Canis familiaris ERG VGNC VGNC:40448
Felis catus ERG VGNC VGNC:61937
Rattus norvegicus ERG RGD RGD:621108
Mus musculus ERG MGD MGI:95415
Macaca mulatta ERG VGNC VGNC:72427
Canis lupus familiaris ERG NCBI
Others ERG NCBI