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This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  该基因编码的WNK家族丝氨酸 - 苏氨酸蛋白激酶的成员。激酶是在肾细胞中的紧密连接复合物的一部分,并且regulates氯化钠重吸收和钾(+)的分泌之间的平衡。激酶调节几种类型的离子通道,协同转运,并在上皮细胞参与电解质磁通交换器的活动。突变这个基因导致假性IIB型。[由RefSeq的,2009年09月提供]
WNK4基因(以及对应的蛋白质)的细胞分布位置:
WNK4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Pseudohypoaldosteronism, Type IIb | 0.44 | 3 | 4 | CLINVAR_MGD_ORPHANET_UNIPROT |
Hypertensive disease | 0.157434029 | 36 | 1 | BeFree_CTD_human_GAD_LHGDN |
Pseudohypoaldosteronism | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Gitelman Syndrome | 0.08 | 0 | 0 | MGD |
Pseudohypoaldosteronism, Type IIa | 0.08 | 0 | 0 | MGD |
Pseudohypoaldosteronism, Type II | 0.007328931 | 27 | 1 | BeFree |
Hypercalciuria | 0.00680591 | 5 | 1 | BeFree_LHGDN |
Hyperkalemia | 0.00272435 | 1 | 0 | LHGDN |
Essential Hypertension | 0.002171535 | 8 | 0 | BeFree |
PSEUDOHYPOALDOSTERONISM, TYPE IID | 0.001628651 | 6 | 0 | BeFree |
genetic hypertension | 0.000814326 | 3 | 0 | BeFree |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA | 0.000542884 | 2 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 1 | BeFree |
Hypernatremia | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Drug usage | 0.000271442 | 1 | 0 | BeFree |
Cortisol 11-beta-ketoreductase deficiency | 0.000271442 | 1 | 0 | BeFree |
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