【bbin宝盈基因检测】男性生殖科遗传测试资质考核中关于ERF的问题及答案

基因检测的序列名称：

ERF

人体基因序列变化与疾病表征数据库中的基因代码：

2077

人体基因序列数据库中国际研讨名称全称

ETS2 repressor factor

中国数据库中基因全称：

ETS2阻遏因子

基因检测报告英文版基因简介

ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

基因突变所影响的基因信息

ETS2是参与发育，凋亡和端粒酶调控的转录因子和原癌基因。该基因编码的蛋白质与ETS2启动子结合，是ETS2转录的强阻遏物。已经发现该基因编码两种不同同工型的几种转录物变体。[由RefSeq给予，2015年8月]

国际国内该碱基基因序列的其他英语文字母简称：

CHYTS, CRS4, PE-2, PE2

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19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：42751717；结束位置坐标为：42759309。该基因序列在GRCh38版本中的起始位置坐标为：42247561；结束位置坐标为：42255164。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。

bbin宝盈基因解码对该基因的功能分类：国际版

Transcription factors/Helix-turn-helix domains

基因解码对该基因的功能分类：中文版

转录因子/螺旋-转角-螺旋结构域

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Nucleoplasm

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

核质

该基因序列变化后增加的疾病风险（国际版）：

Posterior plagiocephaly; Craniofacial dysostosis type 1; Multiple suture craniosynostosis; CRANIOSYNOSTOSIS 4; Stomatocytosis Result; Cloverleaf skull; Synostotic Posterior Plagiocephaly; Arnold Chiari Malformation; Language Development Disorders; Acrocephaly; Asymmetry of the posterior cranium; Flattening of cranial vault; Flattening of head; Plagiocephaly; Plagiocephaly, Nonsynostotic; Rhomboid shaped head; Intracranial Hypertension; Flat back of the head; Flat occiput; Abnormally-shaped vertebrae; Conjunctivitis; Conjunctivitis, recurrent; Malformed pinnae; Convex nasal ridge; Skull malformation; Craniosynostosis; Distortion of face; Dysmorphic facies; Funny looking face; Syndactyly of fingers; facial deformity; Decreased joint mobility; Retrognathia; Congenital anomaly of face; Abnormal skeletal development; Cerebellar Hypoplasia; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Bulging forehead; Prominent forehead; Osteochondrodysplasias; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Brachycephaly; Broad cranium shape; Wide skull shape; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; High forehead; Mental impairment; Tall forehead; Impaired cognition; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Low-set, posteriorly rotated ears; Conductive hearing loss; Hypotrophic malar bone; Malar flattening; Craniofacial Abnormalities; Frontal bossing; Blepharoptosis; Orbital separation excessive; Strabismus; Muscle hypotonia

如果该基因突变后，风险可能增加的疾病类型（中文版）：

后斜头畸形； 1 型颅面骨发育不全；多次缝合颅缝早闭；颅缝早闭 2型；口形红细胞增多症结果；三叶草头骨； Synostotic 后斜头畸形; Arnold Chiari 畸形；语言发育障碍；尖头畸形；后颅骨不对称；颅顶扁平化；头部扁平;斜头畸形；斜头畸形非收缩性；菱形头；颅内高压；后脑勺平坦；平坦的枕骨；异常形状的椎骨；结膜炎;结膜炎反反复作；畸形耳廓；凸鼻梁；颅骨畸形；颅缝早闭；面部扭曲；畸形面容；滑稽的脸；手指并指；面部畸形；关节活动度下降；后颌畸形；面部先天性异常；骨骼发育异常；小脑发育不全；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；额头隆起；突出的额头；骨软骨发育不良;长而窄的头；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;短头畸形；宽颅骨形状；宽颅骨形状；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;高额头;精神障碍；额头高；认知障碍；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；位置低、向后旋转的耳朵；传导性听力损失；营养不良的颧骨;颧骨变平；颅面异常；正面凸起；上睑下垂；轨道分离过度；斜视；肌张力减退