ETV7 - ETS variant transcription factor 7 Gene

Also Known as TEL2; TELB; TEL-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51513

About ETV7

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:36,354,088-36,387,669 (from NCBI)

This gene has 8 transcripts (splice variants), 161 orthologues and 28 paralogues. Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.6) and 19 other tissues.

Summary

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]

ETV7 Products (8)

mRNA Protein Name
NM_001207035.2 NP_001193964.1 transcription factor ETV7 isoform 2
NM_001207036.2 NP_001193965.1 transcription factor ETV7 isoform 3
NM_001207037.2 NP_001193966.1 transcription factor ETV7 isoform 4
NM_001207038.2 NP_001193967.1 transcription factor ETV7 isoform 5
NM_001207039.2 NP_001193968.1 transcription factor ETV7 isoform 6
NM_001207040.2 NP_001193969.1 transcription factor ETV7 isoform 7
NM_001207041.2 NP_001193970.1 transcription factor ETV7 isoform 8
NM_016135.4 NP_057219.1 transcription factor ETV7 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
11108721 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11108721 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12588862 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 negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
11108721 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

ETV7 Protein Structure

SAM_PNT

SAM_PNT: Sterile alpha motif (SAM)/Pointed domain (47 - 116)

Ets

Ets: Ets-domain (225 - 306)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
Protein Preferred Names Protein Names

transcription factor ETV7

  • ETS-related protein Tel2

Related Diseases

Diseases Alias
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

Progressive Myoclonus Epilepsy 7
  • Epm7

  • Meak

  • Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

  • Pme Type 7

  • Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

  • Progressive Myoclonus Epilepsy Type 7

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

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