🧬 基因注释：CALM2

官方名称：calmodulin 2

功能摘要：This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].

• HNRNPC 综合评分: 0.598 · 证据 2 条
• RBFOX2 综合评分: 0.529 · 证据 2 条
• FUS 综合评分: 0.522 · 证据 1 条
• fus 综合评分: 0.522 · 证据 1 条
• HNRNPH1 综合评分: 0.494 · 证据 2 条
• Tardbp 综合评分: 0.475 · 证据 1 条
• HNRNPA2B1 综合评分: 0.448 · 证据 2 条
• MBNL2 综合评分: 0.436 · 证据 1 条
• KHSRP 综合评分: 0.424 · 证据 2 条
• TIA1 综合评分: 0.410 · 证据 1 条
• Srsf3 综合评分: 0.398 · 证据 1 条
• ELAVL3 综合评分: 0.372 · 证据 1 条
• U2af1 综合评分: 0.364 · 证据 1 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPM 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
• U2af2 综合评分: 0.329 · 证据 1 条
• Nova2 综合评分: 0.324 · 证据 1 条

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