ERBB3 (erb-b2 receptor tyrosine kinase 3)
- symbol:
- ERBB3
- locus group:
- protein-coding gene
- location:
- 12q13.2
- gene_family:
- Receptor Tyrosine Kinases
- alias symbol:
- HER3
- alias name:
- human epidermal growth factor rece…
- entrez id:
- 2065
- ensembl gene id:
- ENSG00000065361
- ucsc gene id:
- uc001sjh.4
- refseq accession:
- NM_001982
- hgnc_id:
- HGNC:3431
- approved reserved:
- 1990-07-15
ERBB3（也称为HER3）是人类表皮生长因子受体（EGFR）家族的一员，属于受体酪氨酸激酶（RTK）家族。ERBB3基因编码的蛋白质是一种跨膜受体，通过与配体（如神经调节蛋白）结合而被激活，参与调控细胞增殖、分化、存活和迁移等生物学过程。ERBB3本身缺乏激酶活性，必须与其他ERBB家族成员（如ERBB2/HER2）形成异源二聚体才能激活下游信号通路，如PI3K-AKT和MAPK通路，从而影响细胞功能。ERBB3在多种组织中表达，尤其在神经系统、心脏和乳腺等器官中发挥重要作用。ERBB3的突变或异常表达与多种疾病相关，尤其是癌症。例如，ERBB3的过表达或激活突变可导致信号通路的持续激活，促进肿瘤细胞的生长和存活，常见于乳腺癌、卵巢癌、胃癌和结直肠癌等。此外，ERBB3的某些突变可能影响其与配体或其他ERBB受体的结合能力，从而干扰正常信号传导，导致发育异常或疾病。降低ERBB3表达可能抑制肿瘤生长，但也可能影响正常组织的功能，如心脏和神经系统的发育与维持。ERBB3属于ERBB基因家族，该家族包括EGFR（ERBB1/HER1）、ERBB2（HER2/neu）、ERBB3（HER3）和ERBB4（HER4）。这些成员均具有相似的蛋白结构，包括胞外配体结合域、跨膜区和胞内酪氨酸激酶域（ERBB3除外）。它们通过形成同源或异源二聚体激活下游信号通路，调控细胞行为。ERBB家族在胚胎发育、组织稳态和疾病（尤其是癌症）中发挥关键作用。ERBB3的过表达或功能增益突变可能增强其与其他ERBB受体的相互作用，导致信号通路的过度激活，促进肿瘤发生。相反，ERBB3表达降低可能减弱其介导的信号传导，影响细胞存活和组织功能。因此，ERBB3是癌症治疗的重要靶点，针对ERBB3的抗体或小分子抑制剂正在研发中，以阻断其促肿瘤作用。
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
该基因编码的表皮生长因子受体（EGFR）家族的受体酪氨酸激酶的成员。这种膜结合蛋白具有神经调节蛋白结合结构域，但不活性激酶结构域。因此，它可以结合这种配位体，但通过蛋白磷酸化不是信号传送到细胞中。但是，它确实形式的异源二聚体与其它EGF受体家族成员确实具有激酶活性。异二聚导致通路从而导致细胞增殖或分化的激活。此基因和/或它的蛋白质的过表达的扩增已经报道在许多癌症，包括前列腺癌，膀胱癌，和乳房肿瘤。替代转录剪接变异体编码不同亚型进行了表征。一种同种型缺乏膜间区域和被分泌到细胞外。这种形式的作用以调节膜结合形式的活性。附加剪接变体也有报道，但还没有被充分表征。 [由RefSeq的，2008年7月提供]
基因本体信息
ERBB3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
ERBB3基因的本体（GO）信息：
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4144 Endocytosis [PATH:hsa04144] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 名称 |
|---|
| Adaptive Immune System |
| Constitutive Signaling by Aberrant PI3K in Cancer |
| DAP12 interactions |
| DAP12 signaling |
| Disease |
| Diseases of signal transduction |
| Downregulation of ERBB2:ERBB3 signaling |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Fc epsilon receptor (FCERI) signaling |
| GAB1 signalosome |
| GRB7 events in ERBB2 signaling |
| Immune System |
| Innate Immune System |
| NGF signalling via TRKA from the plasma membrane |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| SHC1 events in ERBB2 signaling |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signalling by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lethal Congenital Contracture Syndrome 2 | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
| Diabetes Mellitus, Insulin-Dependent | 0.160315489 | 20 | 3 | BeFree_GAD_GWASCAT |
| Mammary Neoplasms | 0.137964821 | 21 | 0 | BeFree_CTD_human_LHGDN |
| Prostatic Neoplasms | 0.133621751 | 5 | 0 | CTD_human_LHGDN |
| Lung Neoplasms | 0.128715934 | 5 | 1 | BeFree_CTD_human_LHGDN |
| Disease Progression | 0.125091382 | 3 | 0 | CTD_human_GAD_LHGDN |
| Nasopharyngeal carcinoma | 0.12 | 1 | 0 | CTD_human |
| gallbladder neoplasm | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Mouth Neoplasms | 0.08 | 1 | 0 | RGD |
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