ETS VARIANT TRANSCRIPTION FACTOR 7; ETV7

Alternative titles; symbols

• ETS VARIANT GENE 7
• ETS TRANSCRIPTION FACTOR TEL2; TEL2
• TELB

HGNC Approved Gene Symbol: ETV7

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:36,354,087-36,387,668 (from NCBI)

▼ Description
The ETS (E26 transformation-specific) family of transcription factors, of which ETV7 is a member, 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 (Potter et al., 2000).

▼ Cloning and Expression
Potter et al. (2000) sequenced cDNA clones corresponding to a novel ETS gene from an activated T-cell cDNA library, as well as from breast tissue and meningioma cDNA libraries. The cDNA, which the authors designated TEL2, encodes a deduced 341-amino acid protein that shares 38% sequence identity with TEL1 (ETV6; 600618). TEL2 contains a C-terminal ETS domain and an N-terminal PNT domain, which is thought to mediate protein-protein interactions. Northern blot analysis revealed expression of TEL2 mRNA predominantly in hematopoietic tissues; a predominant band of approximately 1.2 kb was present in fetal liver and bone marrow and was faintly present in peripheral blood leukocytes. Using antibodies raised against the C terminus of the TEL2 protein, Potter et al. (2000) showed that TEL2 localizes to the nucleus. The striking similarities of TEL2 to TEL1, its expression in hematopoietic tissues, and its ability to associate with TEL1 suggested that TEL2 may be an important hematopoietic regulatory protein.

Poirel et al. (2000) identified the TELB gene by comparison of the TEL sequence with genomic sequence databases. Northern blot analysis detected ubiquitous expression of TELB.

▼ Gene Structure
Potter et al. (2000) determined that the TEL2 gene contains 8 exons spanning approximately 21 kb.

▼ Mapping
By fluorescence in situ hybridization and by inclusion within a PAC clone, Potter et al. (2000) mapped the TEL2 gene to chromosome 6p21.

Poirel et al. (2000) mapped the TELB gene to 6p21 by genomic sequence analysis.