【佳学基因检测】基因评估分析包没有包含RUNX2基因怎么办？

基因检测的序列名称：

RUNX2

人体基因序列变化与疾病表征数据库中的基因代码：

860

人体基因序列数据库中国际交流名称全称

RUNX family transcription factor 2

中国数据库中基因全称：

RUNX家族转录因子2

基因检测报告英文版基因简介

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]

基因突变所影响的基因信息

该基因是RUNX转录因子家族的成员，并编码具有Runt DNA结合结构域的核蛋白。该蛋白对于成骨细胞分化和骨骼形态发生是必不可少的，并且充当涉及骨骼基因表达的核酸和调节因子的支架。该蛋白质既可以作为单体也可以作为异源二聚体复合物的亚基结合DNA。潜在的三核苷酸重复扩增的两个区域存在于编码的蛋白质的N端区域，并且该基因中的这些和其他突变与骨发育异常前颅骨发育不良（CCD）有关。编码不同蛋白质同工型的转录物变体由使用替代启动子和替代剪接产生。[由RefSeq提供，2016年7月]

国际国内该碱基基因序列的其他英语文字母简称：

AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA

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6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：45296054；结束位置坐标为：45518819。该基因序列在GRCh38版本中的起始位置坐标为：45328142；结束位置坐标为：45664032。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

Transcription factors/Immunoglobulin fold

基因解码对该基因的功能分类：中文版

转录因子/免疫球蛋白折叠

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）：

Abnormal facility in opposing the shoulders; Absent paranasal sinuses; Cleidocranial Dysplasia; Long second metacarpal; METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; Missing sinuses; Paranasal sinus aplasia; Spondylarthritis; Stomatognathic System Abnormalities; Short middle phalanx of the 2nd finger; Delayed maturation fo pubic bone; Delayed mineralization of pubic bone; Delayed pubic bone ossification; Hypoplastic inferior ilia; Persistent open anterior fontanelle; Short stature, moderate; Syringomyelia; Wide pubic symphysis; Cervical rib; Short face; Abnormality of the sacrum; Osteoporosis of vertebrae; Parietal bossing; Short 5th metacarpal; Spondylolysis; Aplastic clavicles; Decreased pneumatization of frontal sinus; Hyperplasia of foramen magnum; Hypoplastic frontal sinuses; Hypotrophic frontal sinus; Increased circumference of foramen magnum; Increased diameter of foramen magnum; Large foramen magnum; Spondylolisthesis; Tooth, Supernumerary; Absent frontal sinuses; Aplasia of frontal sinus; Delayed eruption of permanent teeth; CLEFT CHIN; Pyle metaphyseal dysplasia; Decreased calcification of skull; Defect of skull ossification; Delayed eruption of primary teeth; Spina Bifida Occulta; Short middle phalanx of the 5th finger; Arthritis, Psoriatic; Hypoplastic scapulae; Respiratory Distress Syndrome; Short femoral neck; Cone-shaped epiphyses of phalanges; Abnormality of the metacarpal bones; Increased thickness of cranium; Thickened calvaria; Uremia; Congenital hypoplasia of clavicle; Early tooth exfoliation; Premature tooth loss; Hypoplastic iliac wing; Narrow palate; Splayed metaphyses; Increased susceptibility to fractures; Open Bite; Sloping shoulders; Depressed cheekbone; Flattening of the zygomatic bone; Hypoplasia of the zygomatic bone; Hypotrophic cheekbone; Small cheekbone; Osteosclerosis; Hip joint varus deformity - observation; Structure of wormian bone; Short ribs; Defective tooth enamel; Dystrophic tooth enamel; Enamel abnormalities; Abnormality of the ribs; High, narrow palate; Paranasal Sinus Diseases; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Convex nasal ridge; Sinusitis; Osteosarcoma; Sloping forehead; Large bregma sutures; Large fontanelle; Large, late-closing fontanelle; Wide bregma sutures; Thin lips; Chronic otitis media; ear infection chronic; Short philtrum; Narrow thorax; Platyspondyly; Abnormal skeletal development; Late tooth eruption; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Tooth Abnormalities; Osteochondrodysplasias; Dental caries; Rotting teeth; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Hyperkyphosis; Kyphosis deformity of spine; Degenerative polyarthritis; Brachydactyly; Hypotrophic malar bone; Malar flattening; Recurrent respiratory infections; Craniofacial Abnormalities; Frontal bossing; Osteoporosis; Uranostaphyloschisis; Rheumatoid Arthritis; Congenital deafness; Hearing Loss, Partial; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Short stature

如果该基因突变后，风险可能增加的疾病类型（中文版）：

对抗肩膀的异常能力；没有鼻旁窦；颅骨发育不良；长第二掌骨；伴有或不伴有短指畸形的上颌骨发育不全的干骺端发育不良；鼻窦缺失；鼻旁窦发育不全；脊椎关节炎;口颌系统异常；第二指的短中节指骨；耻骨成熟延迟；耻骨矿化延迟;耻骨骨化延迟;发育不良的下髂骨；持续开放的前囟门；身材矮小中等；脊髓空洞症;广泛的耻骨联合;颈肋;短脸；骶骨异常;椎骨骨质疏松症;顶叶隆起；第 5 掌骨短；椎骨溶解；再生障碍性锁骨；额窦气化减少；枕骨大孔增生；发育不良的额窦;萎缩性额窦;枕骨大孔周长增加；枕骨大孔直径增加；枕骨大孔；脊椎滑脱;牙齿多余的；没有额窦；额窦发育不全;恒牙延迟萌出；下巴裂；派尔干骺端发育不良；颅骨钙化减少；颅骨骨化缺陷；乳牙延迟萌出；脊柱裂隐匿；第 5 指的短中节指骨；关节炎银屑病；肩胛骨发育不全；呼吸窘迫综合征；股骨颈短；指骨的锥形骨骺；掌骨异常;颅骨厚度增加；加厚的颅骨；尿毒症；先天性锁骨发育不全；早期牙齿去角质；牙齿过早脱落；发育不全的髂翼；狭窄的上颚；张开的干骺端；骨折易感性增加；打开咬合；倾斜的肩膀;颧骨凹陷；颧骨变平；颧骨发育不全;颧骨肥大；小颧骨；骨硬化；髋关节内翻畸形——观察；蠕虫骨骼的结构；短肋;牙釉质有缺陷；营养不良的牙釉质；牙釉质异常；肋骨异常;高而窄的上颚；鼻旁窦疾病；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；凸鼻梁；鼻窦炎;骨肉瘤;前额倾斜；大前囟缝合线；大囟门；大的、晚闭的囟门；宽前囟缝合线；薄嘴唇;慢性中耳炎;耳部感染慢性;短人中；狭窄的胸部;鸭嘴兽;骨骼发育异常；晚出牙；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；牙齿异常；骨软骨发育不良;龋齿;蛀牙; III 类咬合不正；下颌肥大;下颌骨增大；下颌骨增生;下颌过长（物理发现）；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；脊柱后凸;脊柱后凸畸形；退行性多关节炎;短指；营养不良的颧骨;颧骨变平；反复呼吸道感染；颅面异常；正面凸起；骨质疏松症； Uranostaphyloschisis;类风湿关节炎;先天性耳聋；部分听力损失；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；腭裂;听力受损;轨道分离过度；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；脊柱弯曲；身材矮小

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）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

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）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容