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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]
[中文简述(自动翻译):]  该基??因编码的骨形态发生蛋白(BMP)受体家族的跨膜丝氨酸/苏氨酸激酶的成员。该受体的配体是骨形成蛋白,它们是转化生长因子-β超家族的成员。骨形态发生蛋白参与软骨内骨形成和胚胎形成。这些蛋白通过2种不同类型的丝氨酸(苏氨酸)激酶受体的异聚复合物的形成转导其信号:约50-55 kD的的I型受体和II型受体约70-80 kD的的。 II型受体结合的配体在不存在I型受体,但它们需要各自的I型受体的信号,而I型受体需要其II各自型受体的配体结合。在这种基因突变与原发性肺动脉高压相关联。一些转录变异体的编码两个不同的亚型已经发现了这种基因。 [由RefSeq的,2012年2月提供]
BMPR1B基因(以及对应的蛋白质)的细胞分布位置:
BMPR1B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
BRACHYDACTYLY, TYPE A2 | 0.481357209 | 6 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Chondrodysplasia, acromesomelic, with genital anomalies | 0.24 | 1 | 1 | CLINVAR_CTD_human |
Prostatic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Brachydactyly type C | 0.120271442 | 1 | 2 | BeFree_ORPHANET |
Bone Diseases, Developmental | 0.12 | 1 | 0 | CTD_human |
Eye Abnormalities | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Chondrodysplasia, Grebe type | 0.12 | 0 | 0 | ORPHANET |
Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
Brachydactyly syndrome type C | 0.12 | 0 | 0 | ORPHANET |
Fibular hypoplasia and complex brachydactyly | 0.12 | 0 | 0 | ORPHANET |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Pulmonary Hypertension | 0.00272435 | 1 | 0 | LHGDN |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Hypertensive disease | 0.002367032 | 1 | 1 | GAD |
Juvenile polyposis syndrome | 0.002367032 | 1 | 0 | GAD |
Attention deficit hyperactivity disorder | 0.002367032 | 1 | 1 | GAD |
Syndactyly | 0.000542884 | 2 | 2 | BeFree |
Idiopathic pulmonary hypertension | 0.000542884 | 2 | 0 | BeFree |
Chondrodysplasia | 0.000542884 | 2 | 0 | BeFree |
Idiopathic pulmonary arterial hypertension | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Rectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
granulosa cell tumor | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Limb Deformities, Congenital | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Collecting Duct Carcinoma of the Kidney | 0.000271442 | 1 | 2 | BeFree |
SYMPHALANGISM, PROXIMAL | 0.000271442 | 1 | 2 | BeFree |
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