人 KANK2 抗体对
01AB03136
KN motif and ankyrin repeat domains 2 (KANK2) is a cytoplasmic scaffold protein comprising an N-terminal KN motif and C-terminal ankyrin repeats. It regulates the actin cytoskeleton and focal adhesions by modulating Rho signaling and microtubule targeting. KANK2 also influences transcription by sequestering nuclear receptor coactivators. Pathogenic mutations in KANK2 compromise the cytoskeletal integrity of podocytes, causing nephrotic syndrome type 16, and disrupt epidermal structure, leading to palmoplantar keratoderma with woolly hair. These associations highlight its critical role in maintaining the structural coherence of the kidney filtration barrier and skin.
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技术参数
- 靶点基因名
- KANK2
- 基因别名
- ANKRD25; KIAA1518; MXRA3; SIP
- 蛋白别名
- KN motif and ankyrin repeat domains 2; KANK2
- UniProt
- Q63ZY3
- 物种
- Human
产品详情
- 靶点名称
- KANK2
- 蛋白名称
- KN motif and ankyrin repeat domains 2
- 蛋白别名
- KN motif and ankyrin repeat domain-containing protein 2; Ankyrin repeat domain-containing protein 25; Matrix-remodeling-associated protein 3; SRC-1-interacting protein; SIP; SRC-interacting protein; SRC1-interacting protein
- 靶点基因名
- KANK2
- 基因别名
- ANKRD25; KIAA1518; MXRA3; SIP
- UniProt
- Q63ZY3
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
KN motif and ankyrin repeat domains 2 (KANK2) is a cytoplasmic scaffold protein comprising an N-terminal KN motif and C-terminal ankyrin repeats. It regulates the actin cytoskeleton and focal adhesions by modulating Rho signaling and microtubule targeting. KANK2 also influences transcription by sequestering nuclear receptor coactivators. Pathogenic mutations in KANK2 compromise the cytoskeletal integrity of podocytes, causing nephrotic syndrome type 16, and disrupt epidermal structure, leading to palmoplantar keratoderma with woolly hair. These associations highlight its critical role in maintaining the structural coherence of the kidney filtration barrier and skin.