【佳学基因检测】EP300基因筛查的意义

基因检测的序列名称：

EP300

人体基因序列变化与疾病表征数据库中的基因代码：

2033

人体基因序列数据库中国际交流名称全称

E1A binding protein p300

中国数据库中基因全称：

E1A结合蛋白p300

基因检测报告英文版基因简介

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

基因突变所影响的基因信息

该基因编码与腺病毒E1A相关的细胞p300转录共激活蛋白。它起组蛋白乙酰转移酶的作用，通过染色质重塑来调节转录，在细胞增殖和分化过程中起重要作用。它通过与磷酸化的CREB蛋白特异性结合来介导cAMP基因的调控。该基因还被鉴定为HIF1A（缺氧诱导因子1α）的共激活因子，因此在刺激缺氧诱导的基因（如VEGF）中发挥作用。该基因的缺陷是Rubinstein-Taybi综合征的病因，也可能在上皮癌中起作用。[由RefSeq提供，2008年7月]

国际国内该碱基基因序列的其他英语文字母简称：

KAT3B, MKHK2, RSTS2, p300

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22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：41488614；结束位置坐标为：41576081。该基因序列在GRCh38版本中的起始位置坐标为：41092610；结束位置坐标为：41180077。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。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Transferases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/转移酶

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）：

RUBINSTEIN-TAYBI SYNDROME 2; Abnormal number of teeth; Abnormality of refraction; Deviated nasal septum; High axial triradius; Plantar crease between first and second toes; Radial deviation of thumb terminal phalanx; Rubinstein-Taybi Syndrome; Dens evaginatus; Extra cusp on inside of front tooth; Facial grimacing; Globe retraction and deviation on adduction; Hair whorls; Hallucal duplication; Limited eye motility from Duane anomaly; Papillary cystadenoma of the epididymis; Partial/complete duplication of the phalanges of the hallux; Talon cusp; Upswept frontal hair pattern; Upswept frontal hairline; Vascular ring; Agoraphobia; Bifid uterus; Chorioretinal dystrophy; Deep overbite; Low hanging columella; Overbite; Posterior lingual occlusion of mandibular teeth; Rounded columella; Premature development of the breasts; Cervical vertebral abnormalities; Corneal abnormalities; Cornela disease; Hyperplasia of foramen magnum; Increased circumference of foramen magnum; Increased diameter of foramen magnum; Large foramen magnum; Legg-Calve-Perthes Disease; Prominent fingertip pads; Duane Retraction Syndrome; Tethered Cord Syndrome; Mirror movements disorder; Impulsive Behavior; Lacrimal Duct Obstruction; Obstruction of nasolacrimal duct; Reduced concentration span; Shawl scrotum; Sleep Apnea, Obstructive; Strawberry nevus of skin; Phonophobia; Poor coordination; Congenital anomaly of the kidney; Spina Bifida Occulta; Flared iliac wings; Leiomyosarcoma of uterus; T-Cell Lymphoma; Congenital dislocation of radial head; Laryngomalacia; Self Mutilation; Transitional cell carcinoma of bladder; Hereditary nonpolyposis colorectal carcinoma; Hypoplastic iliac wing; Narrow palate; Increased gastric cancer; Recurrent upper respiratory tract infection; Hyperplasia of nose; Hypertrophy of nose; Large nose; Obesity, Abdominal; Broad thumbs; Late fontanel closure; Polydactyly; Broad hallux; Gait, Unsteady; Megacolon; Single transverse palmar crease; Low anterior hairline; Stevens-Johnson Syndrome; Carcinoma, Transitional Cell; Birthmark; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Cafe-au-Lait Spots; Long eyelashes; Convex nasal ridge; Keloid; Stereotyped Behavior; Congenital ocular coloboma (disorder); Hirschsprung Disease; Stereotypic Movement Disorder; Auricular malformation; Bowed and upward slanting eyebrows; Simple ear; Thick, flared eyebrows; Small cell carcinoma of lung; Syndactyly; Respiratory distress; Wide anterior fontanel; Inadequate arch length for tooth size; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Hirsutism; Bushy eyebrows; Low posterior hairline; Endometrial Neoplasms; Joint laxity; Retrognathia; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Postnatal growth retardation; Adenocarcinoma of lung (disorder); Enophthalmos; Sunken eyes; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Mild Mental Retardation; Acquired flat foot; Flatfoot; Dental caries; Rotting teeth; Isolated cases; Patent ductus arteriosus; Microstomia; Squamous cell carcinoma of esophagus; Cardiac conduction abnormalities; EKG abnormalities; Electrocardiogram change; Agenesis of corpus callosum; Conduction disorder of the heart; Electrocardiogram abnormal; Polyhydramnios; Atrial Septal Defects; Hyperactive behavior; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Adenoid Cystic Carcinoma; Cardiac Arrhythmia; Pectus excavatum; Electroencephalogram abnormal; Penile hypospadias; Bilateral fifth finger clinodactyly; Curvature of little finger; Bladder Neoplasm; Delayed speech and language development; Kidney Diseases; Language Delay; Speech Delay; Speech impairment; Glaucoma; Squamous cell carcinoma; Ventricular Septal Defects; Delayed bone age; Dyschezia; Prenatal onset; Renal Cell Carcinoma; Constipation; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Highly variable severity; Variable expressivity; Feeding difficulties in infancy; Congenital Epicanthus; Low set ears; Congenital deafness; Hearing Loss, Partial; Byzanthine arch palate; Deafness; hearing impairment; Hyperreflexia; melanoma; Lens Opacities; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Cataract; Cryptorchidism; Strabismus; Obesity; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Autistic Disorder; Curvature of spine; Alcoholic Intoxication, Chronic; Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Small head; Mammary Neoplasms; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

如果该基因突变后，风险可能增加的疾病类型（中文版）：

鲁宾斯坦-泰比综合征 2型；牙齿数量异常；屈光异常；鼻中隔偏曲；高轴向三角半径；先进和第二脚趾之间的足底折痕；拇指末端指骨的径向偏差；鲁宾斯坦-泰比综合征；外翻牙；前牙内侧有额外的牙尖；做鬼脸；球体收缩和内收偏差；头发螺纹;幻觉复制； Duane 异常导致眼球活动受限；附睾乳头状囊腺瘤;拇趾指骨的部分/有效复制；利爪先进；上翘的额发图案；前额发际线上翘；血管环；广场恐惧症；双歧子宫；脉络膜视网膜营养不良；深覆合；低悬小柱；覆合；下颌牙齿的后舌咬合；圆形小柱；乳房过早发育；颈椎异常；角膜异常；角膜病；枕骨大孔增生；枕骨大孔周长增加；枕骨大孔直径增加；枕骨大孔； Legg-Calve-Perthes病；突出的指尖垫；杜安退缩综合征；绳索综合症；镜像运动障碍；冲动行为；泪道阻塞；鼻泪管阻塞；减少浓度跨度；披肩阴囊;睡眠呼吸暂停阻塞性；皮肤草莓痣；恐声症；协调性差；肾脏先天性异常;脊柱裂隐匿；展开的髂翼；子宫平滑肌肉瘤; T 细胞淋巴瘤；先天性桡骨头脱位；喉软化症；自残；膀胱移行细胞癌；遗传性非息肉病性结直肠癌；发育不全的髂翼；狭窄的上颚；增加胃癌；反复上呼吸道感染；鼻子增生;鼻子肥大;大鼻子；肥胖腹部；大拇指；囟门晚闭；多指；大拇指；步态不稳；巨结肠;单横向手掌折痕；低前发际线；史蒂文斯-约翰逊综合症；癌移行细胞；胎记;牙釉质基质缺陷；牙釉质发育不全；牙釉质发育不良;薄牙釉质；牛奶咖啡点；长长的睫毛;凸鼻梁；瘢痕疙瘩;刻板行为；先天性眼部缺损（疾病）；先天性巨结肠症；刻板运动障碍；耳廓畸形；弓形和向上倾斜的眉毛；简单的耳朵；浓密的喇叭形眉毛；肺癌小细胞癌；并指;呼吸窘迫；宽大的前囟门；牙齿尺寸的牙弓长度不足；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；多毛症；浓密的眉毛;后发际线低；子宫内膜肿瘤；关节松弛；后颌畸形；角度 2 级错牙合；角度 3 级错牙合；咬合不正；产后发育迟缓；肺腺癌（疾病）；眼球内陷；凹陷的眼睛；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；轻度智力低下；后天性扁平足；扁平足;龋齿;蛀牙；孤立个案；动脉导管未闭；小口症；食道鳞状细胞癌；心脏传导异常；心电图异常；心电图改变；胼胝体发育不全；心脏传导障碍；心电图异常；羊水过多;房间隔缺损；多动行为；关节挛缩；屈曲挛缩；关节屈曲挛缩；挛缩;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;腺样囊性癌；心律失常;漏斗胸;脑电图异常；阴茎尿道下裂;双侧小指弯曲；小指弯曲；膀胱肿瘤；言语和语言发育迟缓；肾脏疾病；语言延迟；语音延迟；言语障碍；青光眼;鳞状细胞癌;室间隔缺损；骨龄延迟；排便困难；产前发作；肾细胞癌；便秘;颅面异常；正面凸起；睑裂向下倾斜；高度可变的严重性；可变表现力；婴儿喂养困难；先天性内眦赘皮；低位耳朵；先天性耳聋；部分听力损失；拜占庭拱形上颚；耳聋；听力受损;反射亢进；黑色素瘤;晶状体混浊；结直肠肿瘤；宽扁的鼻梁；鼻梁宽；上睑下垂；白内障;隐睾;斜视；肥胖;发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；自闭症；脊柱弯曲；酒精中毒慢性；胃肿瘤；未能增加体重；儿科发育不良；小头;乳腺肿瘤；身材矮小；癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

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以该基因做靶点的药物（国际版）：

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针对该基因所产生的突变，可能有正确效果的药物（中文版）：

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