CECR2（Cat Eye Syndrome Chromosome Region Candidate 2）是一个位于人类22号染色体上的基因，属于BAF（BRG1/BRM-associated factor）染色质重塑复合物家族。这个基因编码的蛋白质在染色质重塑和基因表达调控中发挥重要作用，参与胚胎发育、细胞分化和神经系统的功能维持。CECR2蛋白通过与染色质结合并改变其结构，影响下游基因的转录活性，尤其在心脏、大脑和眼睛的发育过程中至关重要。CECR2的突变可能导致其功能丧失，与Cat Eye综合征（一种罕见的先天性异常综合征，表现为虹膜缺损、肛门闭锁和心脏缺陷等）相关。此外，CECR2的异常表达还与某些癌症（如神经母细胞瘤和白血病）的发生发展有关。如果CECR2过表达，可能扰乱染色质重塑平衡，导致细胞增殖异常或发育缺陷；而降低表达则可能影响神经和心脏的正常发育，甚至引发先天性畸形。CECR2属于BAF复合物家族，该家族成员共同参与调控染色质结构和基因表达，通过ATP依赖的方式重塑核小体位置，影响细胞命运决定和组织特异性功能。CECR2的功能依赖于与其他BAF复合物成员的相互作用，其突变或表达异常可能破坏复合物的整体功能，进而影响多个生物学过程。

此基因编码参与染色质重塑溴区包含蛋白，并且还可以在DNA损伤反应的作用。所编码的蛋白质功能是参与神经胚ATP依赖复合物的一部分。这种基因是猫眼综合征的候选基因。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年2月提供]

CECR2, located on human chromosome 22, encodes a critical subunit of the BAF (BRG1/BRM-associated factor) chromatin remodeling complex, a multi-protein assembly that utilizes ATP-dependent hydrolysis to reposition nucleosomes and modulate chromatin accessibility. As a core component of this family, CECR2 facilitates the dynamic regulation of gene transcription by altering the physical structure of chromatin, thereby playing an indispensable role in embryonic development, cellular differentiation, and the maintenance of neural system function. Its activity is particularly vital during the organogenesis of the heart, brain, and eyes, where precise spatiotemporal control of gene expression is required to establish proper tissue architecture and cellular identity. The functional integrity of CECR2 relies on its stable interaction with other BAF complex members; consequently, loss-of-function mutations or dysregulated expression can disrupt the complex’s overall remodeling capacity, leading to profound developmental consequences. Clinically, pathogenic variants in CECR2 are associated with Cat Eye Syndrome, a rare congenital disorder characterized by colobomas of the iris, anal atresia, and cardiac defects, reflecting the gene’s critical role in early embryonic patterning. Furthermore, aberrant CECR2 expression has been implicated in oncogenesis, particularly in neuroblastoma and leukemia, where overexpression may disturb the balance of chromatin remodeling, resulting in uncontrolled cell proliferation, while underexpression can impair normal neurocardiac development and contribute to congenital malformations. Thus, CECR2 serves as a key regulator of cell fate decisions and tissue-specific functions, linking epigenetic regulation to both normal developmental processes and disease pathogenesis.

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