ITGB7 (integrin subunit beta 7)
- symbol:
- ITGB7
- locus group:
- protein-coding gene
- location:
- 12q13.13
- gene_family:
- Integrins
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 3695
- ensembl gene id:
- ENSG00000139626
- ucsc gene id:
- uc001scc.4
- refseq accession:
- NM_000889
- hgnc_id:
- HGNC:6162
- approved reserved:
- 1991-10-07
ITGB7（整合素β7）是整合素家族的一员，属于β亚基家族。整合素是一类跨膜受体蛋白，由α和β亚基组成异二聚体，主要介导细胞与细胞外基质（ECM）或细胞间的黏附，参与细胞迁移、信号传导和免疫应答等过程。ITGB7通常与α4亚基（ITGA4）结合形成α4β7整合素，在淋巴细胞归巢和炎症反应中起关键作用。α4β7整合素特异性结合黏膜地址素细胞黏附分子1（MAdCAM-1），引导淋巴细胞向肠道等黏膜组织迁移，因此在肠道免疫稳态和炎症性肠病（如克罗恩病、溃疡性结肠炎）中具有重要作用。ITGB7还参与免疫细胞的激活和存活信号传递。突变或表达异常可能导致免疫功能紊乱，例如ITGB7缺失会削弱淋巴细胞向肠道的归巢，影响黏膜免疫防御，而过度表达可能与慢性炎症或自身免疫疾病相关。此外，ITGB7在部分癌症（如白血病、淋巴瘤）中异常表达，可能促进肿瘤细胞迁移或转移。整合素家族的共性是通过识别ECM中的特定配体（如纤维连接蛋白、层粘连蛋白）传递机械和化学信号，调控细胞行为。ITGB7的功能依赖于与配体结合后的构象变化及下游信号通路（如FAK、Src激酶）的激活。研究ITGB7有助于开发针对炎症性疾病或癌症的靶向疗法，例如抗α4β7单克隆抗体（如维多珠单抗）已用于治疗炎症性肠病。
This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
这个基因编码的蛋白质，它是整联超家族的成员。该家族的成员是粘附受体，在来自细胞外基质的细胞信号起作用。整合素是一个α链和一个β链组成的异二聚体整合膜蛋白。所编码的蛋白质形成二聚体与alpha4链或alphaE链和起着白细胞粘附的作用。二聚化用alpha4形成用于淋巴细胞肠粘膜和淋巴集结迁移一个归巢受体。二聚化用alphaE允许结合至配体上皮钙，钙依赖性粘附分子。选择性剪接结果在多个抄本变形。这种基因的附加可变剪接转录物变体已有描述，但是它们的全长性质是未知的。 [由RefSeq的，2013年9月提供]
基因本体信息
ITGB7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
ITGB7基因的本体（GO）信息：
| 名称 |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4672 Intestinal immune network for IgA production [PATH:hsa04672] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5410 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] |
| 5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
| 5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
| 名称 |
|---|
| Adaptive Immune System |
| Extracellular matrix organization |
| Immune System |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| Integrin cell surface interactions |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Ileitis | 0.00272435 | 1 | 0 | LHGDN |
| Inflammatory Bowel Diseases | 0.002367032 | 1 | 0 | GAD |
| HIV Infections | 0.000542884 | 2 | 0 | BeFree |
| Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Eosinophilic disorder | 0.000271442 | 1 | 0 | BeFree |
| Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Eosinophilia | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma, T-Cell, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
| Asthma | 0.000271442 | 1 | 0 | BeFree |
| T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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