🧬 基因注释：CACNA2D2

官方名称：calcium voltage-gated channel auxiliary subunit alpha2delta 2

功能摘要：Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014].

• RBFOX2 综合评分: 0.362 · 证据 2 条
• Tardbp 综合评分: 0.356 · 证据 1 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• NXF1 综合评分: 0.162 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF1 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录