ETV7 - ETS variant transcription factor 7 Gene

Homo sapiens

Also known as TEL2; TELB; TEL-2

Gene ID: 51513 | Gene type: protein coding

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

ETV7 Protein Structure

SAM_PNT

Ets

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