基因名:
ETV2
产品别名:
ER71; ETSRP71; ETV2; ETS variant transcription factor 2; ETS variant transcription factor 2; ETS translocation variant 2; ets variant gene 2; ets-related protein 71; ETS相关蛋白71;
背景信息:
ER71 is a 341 amino acid member of the ETS protein family. Localized to the nucleus, ER71 contains one ETS DNA-binding domain which binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. The gene encoding ER71 maps to human chromosome 19, which consists of around 63 million bases with over 1,400 genes, making up over 2% of human genomic DNA. Chromosome 19 is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.