ETV6 - ETS variant transcription factor 6 Gene
Also Known as TEL; THC5; TEL/ABL
Species: Homo sapiens
About ETV6
This gene has 5 transcripts (splice variants), 202 orthologues, 28 paralogues and is associated with 132 phenotypes. Ubiquitous expression in appendix (RPKM 7.0), bone marrow (RPKM 6.7) and 25 other tissues.
Summary
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and Other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
ETV6 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001413913.1 | NP_001400842.1 | transcription factor ETV6 isoform 2 |
| NM_001413914.1 | NP_001400843.1 | transcription factor ETV6 isoform 3 |
| NM_001413915.1 | NP_001400844.1 | transcription factor ETV6 isoform 4 |
| NM_001413916.1 | NP_001400845.1 | transcription factor ETV6 isoform 5 |
| NM_001413917.1 | NP_001400846.1 | transcription factor ETV6 isoform 6 |
| NM_001413918.1 | NP_001400847.1 | transcription factor ETV6 isoform 7 |
| NM_001987.5 | NP_001978.1 | transcription factor ETV6 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
10514502 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
9018121 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12590135 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
12588862 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in hematopoietic stem cell proliferation |
IMP
IMP: Inferred from mutant phenotype
|
25581430 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
10514502 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
10514502 | GOA |
ETV6 Protein Structure
SAM_PNT: Sterile alpha motif (SAM)/Pointed domain (40 - 123)
Ets: Ets-domain (340 - 421)
- 0
- 100
- 200
- 300
- 400
- 452 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor ETV6 |
|
ETV6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ETV6 | P41212 | AP1M1 | Homo sapiens | Q9BXS5 | 25416956 | |
|
Intra
|
ETV6 | P41212 | AP1M1 | Homo sapiens | Q9BXS5 | 25416956 | |
|
Intra
|
ETV6 | P41212 | PIN1 | Homo sapiens | Q13526 | 32296183 | |
|
Intra
|
ETV6 | P41212 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
ETV6 | P41212 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
ETV6 | P41212 | HDAC9 | Homo sapiens | Q9UKV0-3 | 12590135 | |
|
Intra
|
ETV6 | P41212 | HDAC9 | Homo sapiens | Q9UKV0-3 | 12590135 |
ETV6 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83171 | ETV6 Antibody (YA2916) | WB, ICC/IF, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Thrombocytopenia 5 |
|
|
| Hematologic Cancer |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Fibrosarcoma |
|
|
| Primary Hypereosinophilic Syndrome |
|
|
| Leukemia, Acute Myeloid |
|
|
| Congenital Mesoblastic Nephroma |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
|
| Differentiated Thyroid Carcinoma |
|
|
| Thrombocytopenia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
|
|
| Congenital Fibrosarcoma |
|
|
| Acute Leukemia |
|
|
| Mammary Analogue Secretory Carcinoma |
|
|
| B-Lymphoblastic Leukemia/Lymphoma |
|
|
| Leukemia |
|
|
| Childhood Acute Lymphocytic Leukemia |
|
|
| Myeloid Leukemia |
|
|
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
|
| Nephroma |
|
|
| Testicular Leukemia |
|
|
| Childhood Fibrosarcoma |
|
|
| Myelodysplastic Syndrome |
|
|
| Salivary Gland Carcinoma |
|
|
| Breast Secretory Carcinoma |
|
|
| Peripheral T-Cell Lymphoma |
|
|
| Myeloproliferative Neoplasm |
|
|
| Cellular Congenital Mesoblastic Nephroma |
|
|
| Adult Fibrosarcoma |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Iamp21 |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1 |
|
|
| Salivary Gland Mucinous Adenocarcinoma |
|
|
| Kidney Cortex Disease |
|
|
| Childhood B-Cell Acute Lymphoblastic Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy |
|
|
| Fasciitis |
|
|
| Childhood Leukemia |
|
|
| Lipofibromatosis-Like Neural Tumor |
|
|
| Salivary Gland Disease |
|
|
| Parotid Gland Cancer |
|
|
| Acinar Cell Carcinoma |
|
|
| Infantile Myofibromatosis |
|
|
| Chronic Eosinophilic Leukemia |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Polycythemia Vera |
|
|
| Epithelial-Myoepithelial Carcinoma |
|
|
| Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement |
|
|
| Myelofibrosis |
|
|
| Pregnancy Adenoma |
|
|
| Adult Acute Lymphocytic Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy |
|
|
| Diamond-Blackfan Anemia 11 |
|
|
| Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
|
|
| Down Syndrome |
|
|
| Acute Biphenotypic Leukemia |
|
|
| Tonsil Cancer |
|
|
| Pleomorphic Adenoma Carcinoma |
|
|
| Acute Myelomonocytic Leukemia |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
|
|
| Ectomesenchymoma |
|
|
| Central Nervous System Mesenchymal Non-Meningothelial Tumor |
|
|
| Kidney Benign Neoplasm |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Adult Teratoma |
|
|
| Acute Basophilic Leukemia |
|
|
| Central Nervous System Leukemia |
|
|
| Inflammatory Myofibroblastic Tumor |
|
|
| Breast Adenoid Cystic Carcinoma |
|
|
| Lipid-Rich Carcinoma |
|
|
| Myofibroma |
|
|
| Mixed Lacrimal Gland Cancer |
|
|
| Chronic Leukemia |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 8 |
|
|
| Oropharynx Cancer |
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
|
| Spindle Cell Sarcoma |
|
|
| Mesenchymal Cell Neoplasm |
|
|
| Breast Juvenile Papillomatosis |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Kidney Fibrosarcoma |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Li-Fraumeni Syndrome |
|
|
| Essential Thrombocythemia |
|
|
| Breast Cancer |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Breast Adenocarcinoma |
|
|
| Rasopathy |
|
|
| Diamond-Blackfan Anemia |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ETV6 | VGNC | VGNC:72444 |
| Mus musculus | ETV6 | MGD | MGI:109336 |
| Rattus norvegicus | ETV6 | RGD | RGD:1559537 |
| Canis familiaris | ETV6 | VGNC | VGNC:40500 |
| Bos taurus | ETV6 | VGNC | VGNC:28632 |
| Felis catus | ETV6 | VGNC | VGNC:61986 |
| Others | ETV6 | NCBI |