【佳学基因检测】生殖科疾病风险评估项目招标中关于BMPR1B的问题及答案

基因检测的序列名称：

BMPR1B

人体基因序列变化与疾病表征数据库中的基因代码：

658

人体基因序列数据库中国际交流名称全称

bone morphogenetic protein receptor type 1B

中国数据库中基因全称：

骨形态发生蛋白受体1B型

基因检测报告英文版基因简介

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

基因突变所影响的基因信息

此基因编码跨膜丝氨酸/苏氨酸激酶的骨形态发生蛋白（BMP）受体家族的成员。该受体的配体是BMP，是TGF-β超家族的成员。BMPs参与软骨内骨形成和胚胎发生。这些蛋白质通过形成两种不同类型的丝氨酸（苏氨酸）激酶受体的异聚复合物来转导其信号：约50-55 kD的I型受体和约70-80 kD的II型受体。II型受体在没有I型受体的情况下结合配体，但它们需要各自的I型受体进行信号传导，而I型受体需要其各自的II型受体进行配体结合。该基因的突变与原发性肺动脉高压有关。已经发现该基因编码两种不同同工型的几种转录物变ು୔

国际国内该碱基基因序列的其他英语文字母简称：

ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293

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4号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：95679128；结束位置坐标为：96079601。该基因序列在GRCh38版本中的起始位置坐标为：94757977；结束位置坐标为：95158453。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

CD markers;Enzymes/{ENZYME proteins/Transferases,Kinases/TKL Ser/Thr protein kinases}

基因解码对该基因的功能分类：中文版

CD 标记；酶/{酶蛋白/转移酶，激酶/TKL Ser/Thr 蛋白激酶}

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）：

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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）：

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该基因序列变化后增加的疾病风险（国际版）：

ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; Aplasia of the proximal phalanges of the hand; BRACHYDACTYLY, TYPE A1, D; Chondrodysplasia, acromesomelic, with genital anomalies; Widened proximal tibial metaphyses; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the 1st metacarpal; Brachydactyly syndrome type C; Brachydactyly type C; Chondrodysplasia, Grebe type; Complete duplication of distal phalanx of the thumb; Fibular hypoplasia and complex brachydactyly; Pseudoepiphyses of the 2nd finger; Stippling of the epiphysis of the distal phalanx of the thumb; Abnormality of the radius; BRACHYDACTYLY, TYPE A2; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Medially deviated second toe; Thumb deformity; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Absent/hypoplastic middle phalanx of 5th finger; BRACHYDACTYLY, TYPE A1 (disorder); Hypoplastic/aplastic middle phalanx (2nd finger); Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the middle phalanges of the toes; Hypoplastic/aplastic fibulae; Second finger clinodactyly; Ulnar angulation of the index finger; Fibular aplasia; Short index finger; Abnormality of the tibia; Fibular hypoplasia; Short tibia; Synostosis of carpal bones; Thumb absent or hypoplastic; Abnormality of the ulna; Carpal synostosis; Short middle phalanges; Tarsal Coalition; Short middle phalanx of the 5th finger; Short femoral neck; Short hallux; Abnormality of the hip bone; Pinched bridge of nose; Pinched nasal bridge; Hypoplastic finger; Short finger; Broad feet; Short metatarsal; Ulnar deviation of the fingers; Short limb dwarfism, disproportionate; Infantile uterus; Narrow nose; Simple syndactyly of toes, first web space; Cone-shaped epiphyses; Sarcoma; Short ulnae; ULNAR HYPOPLASIA; Bone Diseases, Developmental; Bunion; Hallux Valgus; Hypoplasia of thumb; Broad hallux; Bowing of the long bones; Hypoplastic toes; Short phalanx of finger; Bilateral single transverse palmar creases; Eye Abnormalities; Primary hypogonadism; Radially deviated fingers; Abnormality of epiphysis morphology; Ulnar polydactyly of fingers; Abnormality of the fingernails; Decreased joint mobility; Primary physiologic amenorrhea; Micromelia; Abnormal skeletal development; Hypoplastic feet; Osteochondrodysplasias; Joint stiffness; Bilateral fifth finger clinodactyly; Congenital clubfoot; Curvature of little finger; Brachydactyly; Craniofacial Abnormalities; Prostatic Neoplasms; Short stature; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

肩峰发育不良DEMIRHAN 型；手的近端指骨发育不全；短指畸形A1、D 型；软骨发育不良肢端畸形伴有生殖器异常；胫骨近端干骺端加宽；脚趾中间指骨发育不全；第一掌骨发育不全/发育不全； C型短指综合征； C型短指畸形；软骨发育不良Grebe 型；拇指远节指骨的完整复制；腓骨发育不全和复杂的短指；第二根手指的假骨骺；拇指远端指骨骨骺的点画;半径异常；短指畸形A2 型；第二指中节指骨的托骨骨骺；第 5 指中节指骨的支架骨骺；第二脚趾内侧偏斜；拇指畸形；第二指的三角形中间指骨；第 5 指的三角形中间指骨；第 5 指中节指骨缺失/发育不良；短指畸形A1 型（疾病）；发育不全/发育不全的中节指骨（第二指）；涉及掌骨的发育不全/发育不全；脚趾中间指骨发育不全/发育不全；发育不良/再生障碍性腓骨；食指弯曲；食指的尺骨角度；腓骨发育不全；食指短；胫骨异常;腓骨发育不全;胫骨短；腕骨关节早闭；拇指缺失或发育不全；尺骨异常;腕关节早闭；短的中间指骨；跗骨联盟；第 5 指的短中节指骨；股骨颈短；短拇指；髋骨异常；捏鼻梁;捏鼻梁;手指发育不全；手指短；宽脚；短跖骨;手指尺偏；短肢侏儒症不成比例；婴儿子宫;窄鼻子；简单的脚趾并指第一个网页空间；锥形骨骺；肉瘤;短尺骨；尺骨发育不全；骨骼疾病发育；拇囊炎;拇外翻；拇指发育不全；大拇指；长骨弯曲；发育不良的脚趾；手指短指骨；双侧单横掌横纹；眼睛异常；原发性性腺功能减退症；径向偏离的手指;骨骺形态异常；手指尺骨多指；指甲异常；关节活动度下降；原发性生理性闭经；小梅利亚；骨骼发育异常；发育不全的脚；骨软骨发育不良;关节僵硬；双侧小指弯曲；先天性马蹄内翻足；小指弯曲；短指；颅面异常；前列腺肿瘤；身材矮小；常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Attention Deficit Disorder with Hyperactivity;Hypertension

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）：

注意力缺陷多动症；高血压

以该基因做靶点的药物（国际版）：

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

针对该基因所产生的突变，可能有精准效果的药物（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

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