【佳学基因检测】心血管内科突变检测考查中关于EFNB3的要点

基因检测的序列名称：

EFNB3

人体基因序列变化与疾病表征数据库中的基因代码：

1949

人体基因序列数据库中国际交流名称全称

ephrin B3

中国数据库中基因全称：

ephrin B3

基因检测报告英文版基因简介

EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

ephrin基因家族的成员EFNB3在大脑发育及其维持中很重要。而且，由于与其他脑子区域相比，EFNB3在几个前脑子区域的表达水平特别高，因此它可能在前脑功能中起关键作用。EPH和与EPH相关的受体包含受体蛋白酪氨酸激酶的贼大亚家族，并已参与介导发育事件，特别是在神经系统中。EPH受体通常具有一个激酶结构域和一个胞外区域，其中包含一个富含Cys的结构域和2个纤连蛋白III型重复序列。ephrin配体和受体已被Eph Nomenclature Committee（1997）命名。根据它们的结构和序列关系，eು୔

国际国内该碱基基因序列的其他英语文字母简称：

EFL6, EPLG8, LERK8

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第17号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：7608520；结束位置坐标为：7614693。该基因序列在GRCh38版本中的起始位置坐标为：7705202；结束位置坐标为：7711375。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。