2024年12月24日 · CHIC2 (Cysteine Rich Hydrophobic Domain 2) is a Protein Coding gene. Diseases associated with CHIC2 include Leukemia, Acute Myeloid and Disseminated Eosinophilic Collagen Disease. An important paralog of this gene is CHIC1.

2003年11月1日 · We used fluorescence in situ hybridization (FISH) to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion. CHIC2 deletion was observed in bone marrow cells for 3 of 5 patients with SMCD associated with eosinophilia.

Gene ID: 26511, updated on 4-Jan-2025. This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

2023年11月23日 · CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy.

Ubiquitous expression in testis (RPKM 2.4), gall bladder (RPKM 1.4) and 25 other tissues. 该基因编码 CHIC 蛋白质家族的成员。 编码的蛋白质包含富含半胱氨酸的疏水 (CHIC) 基序，并定位于囊泡结构和质膜。 该基因与一些急性髓性白血病病例有关。 [RefSeq 提供，2008 年 7 月] This gene encodes a member of the CHIC family of proteins.

CMR revealed delayed gadolinium enhancement with diffuse biventricular subendocardial fibrosis and advanced scarring of the RV (Figure 1). Bone marrow biopsy revealed a myeloid neoplasm with molecular testing positive for CHIC2 (4q12) deletion.

etv6::chic2融合基因是一种罕见的aml相关基因异常，由4号染色体和12号染色体易位导致。该融合基因的存在通常提示aml患者预后不良，需要积极采取治疗干预措施。

Located in Golgi apparatus; Golgi-associated vesicle; and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and liver and biliary system. Human ortholog(s) of this gene implicated in acute myeloid leukemia. Orthologous to human CHIC2 (cysteine rich hydrophobic ...

编码的蛋白质包含一个富含半胱氨酸的疏水 (CHIC)基序，定位在囊泡结构和质膜上。 这个基因与某些急性髓细胞白血病病例有关。 [由RefSeq提供，2008年7月] 该基因暂未发现相关的转录本和蛋白质序列信息。 该模块正在开发中，请耐心等待我们的数据更新。 Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

预测在高尔基体到质膜运输的上游或内部发挥作用。 位于高尔基体装置、高尔基相关囊泡和质膜上。 在包括消化系统、大脑、生殖泌尿系统、整饰系统和肝脏胆道系统在内的几个结构中表达。 这个基因的人类同源物与急性粒细胞白血病有关。 与人类CHIC2 (半胱氨酸丰富疏水域2)正交。 [由基因组资源联盟,2022年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 The DNA sequence and analysis of human chromosome 6. Complete sequencing and characterization …