🧬 基因注释：ATP2A2

官方名称：ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

功能摘要：This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019].

• HNRNPC 综合评分: 0.494 · 证据 2 条
• Srsf3 综合评分: 0.460 · 证据 1 条
• HNRNPA2B1 综合评分: 0.448 · 证据 2 条
• Nova2 综合评分: 0.429 · 证据 1 条
• HNRNPK 综合评分: 0.424 · 证据 2 条
• HNRNPM 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.398 · 证据 1 条
• fus 综合评分: 0.398 · 证据 1 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• SRSF9 综合评分: 0.362 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPF 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• Rnps1 综合评分: 0.342 · 证据 1 条
• RBM22 综合评分: 0.312 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• Srsf1 综合评分: 0.310 · 证据 1 条

该基因暂无关联疾病记录