CLCA2 (chloride channel accessory 2)
- symbol:
- CLCA2
- locus group:
- protein-coding gene
- location:
- 1p22.3
- gene_family:
- Chloride channel accessory
- alias symbol:
- CLCRG2
- alias name:
- None
- entrez id:
- 9635
- ensembl gene id:
- ENSG00000137975
- ucsc gene id:
- uc001dlr.5
- refseq accession:
- NM_006536
- hgnc_id:
- HGNC:2016
- approved reserved:
- 1998-09-29
CLCA2（钙激活氯通道辅助蛋白2）属于CLCA基因家族，该家族成员编码的蛋白质主要参与调节钙激活的氯离子通道功能，在维持上皮细胞离子平衡、黏液分泌和细胞黏附中发挥重要作用。CLCA2蛋白主要在乳腺、皮肤、肺和肠道等上皮组织中表达，其功能与细胞增殖、分化和屏障完整性密切相关。研究表明CLCA2通过调控细胞外基质蛋白（如层粘连蛋白）的表达影响细胞间黏附，并在肿瘤转移抑制中起作用，其表达下调与乳腺癌、肺癌等多种癌症的侵袭性增强相关。CLCA基因家族的共性在于它们编码的蛋白质均含有保守的锌结合位点和VWA结构域，能够调节跨膜氯离子传导，但各成员具有组织特异性表达模式。当CLCA2过表达时，可增强上皮细胞间的黏附力，抑制肿瘤细胞迁移；而表达降低则会导致上皮屏障功能受损，促进肿瘤转移。CLCA2的突变可能破坏其正常功能，导致上皮组织稳态失衡，与特应性皮炎、哮喘等炎症性疾病的发生发展相关。值得注意的是，CLCA2在乳腺发育过程中呈现动态表达变化，提示其可能参与激素调控的生理过程。最新研究还发现CLCA2与EGFR信号通路存在交叉作用，可能通过影响受体酪氨酸激酶活性参与细胞命运决定。
The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. [provided by RefSeq, Jul 2008]
None
基因本体信息
CLCA2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CLCA2基因的本体（GO）信息：
| 名称 |
|---|
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 名称 |
|---|
| Ion channel transport |
| Stimuli-sensing channels |
| Transmembrane transport of small molecules |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Crohn Disease | 0.12 | 1 | 1 | GWASCAT |
| Malignant neoplasm of breast | 0.005819831 | 5 | 0 | BeFree_GAD |
| Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Mammary Neoplasms | 0.000814326 | 3 | 0 | BeFree |
| Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
| Erythema Nodosum | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
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