ITPR2 (inositol 1,4,5-trisphosphate receptor type 2)
- symbol:
- ITPR2
- locus group:
- protein-coding gene
- location:
- 12p11.23
- gene_family:
- Inositol 1,4,5-triphosphate receptors
- alias symbol:
- IP3R2|CFAP48
- alias name:
- cilia and flagella associated prot…
- entrez id:
- 3709
- ensembl gene id:
- ENSG00000123104
- ucsc gene id:
- uc001rhg.4
- refseq accession:
- NM_002223
- hgnc_id:
- HGNC:6181
- approved reserved:
- 1991-06-05
ITPR2（肌醇1,4,5-三磷酸受体2型）属于肌醇三磷酸受体（ITPR）基因家族，该家族包括ITPR1、ITPR2和ITPR3三个成员，共同编码细胞内钙离子释放通道的关键组成部分。ITPR家族蛋白主要位于内质网膜上，通过响应肌醇1,4,5-三磷酸（IP3）信号介导钙离子从内质网释放到胞质，参与调控钙信号通路。ITPR2主要在非神经元组织中高表达，如肝脏、胰腺和免疫细胞，其功能涉及代谢调节、分泌活动和免疫反应。ITPR2蛋白的特点是具有IP3结合域、钙离子通道域和调节域，其活性受钙离子浓度、ATP和蛋白质相互作用的精细调控。突变或功能异常可能导致钙信号紊乱，与多种疾病相关。例如，ITPR2突变与吉尔伯特综合征（一种轻度高胆红素血症）有关，可能影响肝脏胆红素代谢。此外，ITPR2异常表达还涉及某些癌症（如乳腺癌和结直肠癌）的进展，因其钙信号失调可促进细胞增殖和迁移。ITPR2过表达可能导致细胞内钙离子持续升高，引发钙超载相关的细胞凋亡或异常增殖，而表达降低则可能削弱钙信号传导，影响分泌功能（如胰岛素释放）或免疫细胞激活。在基因家族层面，ITPR成员虽结构相似，但组织分布和调控特性各异：ITPR1主导神经元和心脏功能，ITPR3常见于外分泌组织，而ITPR2更多参与外周组织代谢。研究ITPR2有助于理解钙依赖性疾病的机制，并为相关治疗（如代谢紊乱或癌症）提供潜在靶点。
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
由该基因编码的蛋白质属于1,4,5-三磷酸肌醇受体家族，其成员是第二信使的细胞内钙释放通道。这些蛋白质调解胞浆钙上升响应受体激活产生三磷酸肌醇。三磷酸肌醇受体介导的信号传导涉及许多过程，包括细胞迁移，细胞分裂，平滑肌收缩，和神经信号。该蛋白是一个类型2受体，它由一个细胞质氨基末端结合肌醇三磷酸，六跨膜螺旋，有助于离子孔隙，和一个短的胞质羧基末端。在这个基因的突变已与无汗相关联，这表明此蛋白质介导的细胞内钙释放所??需的汗腺汗液产生。 [由RefSeq的，2015年4月提供]
基因本体信息
ITPR2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
ITPR2基因的本体（GO）信息：
| 名称 |
|---|
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4540 Gap junction [PATH:hsa04540] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4918 Thyroid hormone synthesis [PATH:hsa04918] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4730 Long-term depression [PATH:hsa04730] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 名称 |
|---|
| Adaptive Immune System |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| beta-catenin independent WNT signaling |
| C-type lectin receptors (CLRs) |
| Ca2+ pathway |
| CLEC7A (Dectin-1) induces NFAT activation |
| CLEC7A (Dectin-1) signaling |
| DAG and IP3 signaling |
| DAP12 interactions |
| DAP12 signaling |
| Downstream signal transduction |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Effects of PIP2 hydrolysis |
| EGFR interacts with phospholipase C-gamma |
| Elevation of cytosolic Ca2+ levels |
| Fc epsilon receptor (FCERI) signaling |
| FCERI mediated Ca+2 mobilization |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| G alpha (q) signalling events |
| G-protein mediated events |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| GPCR downstream signaling |
| Hemostasis |
| Immune System |
| Innate Immune System |
| Integration of energy metabolism |
| Metabolism |
| NGF signalling via TRKA from the plasma membrane |
| Opioid Signalling |
| Phospholipase C-mediated cascade; FGFR2 |
| Phospholipase C-mediated cascade; FGFR3 |
| Phospholipase C-mediated cascade; FGFR4 |
| Phospholipase C-mediated cascade: FGFR1 |
| Platelet activation, signaling and aggregation |
| Platelet calcium homeostasis |
| Platelet homeostasis |
| PLC beta mediated events |
| PLC-gamma1 signalling |
| PLCG1 events in ERBB2 signaling |
| Regulation of insulin secretion |
| Role of phospholipids in phagocytosis |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by FGFR |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by GPCR |
| Signaling by PDGF |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by VEGF |
| Signaling by Wnt |
| Signalling by NGF |
| VEGFA-VEGFR2 Pathway |
| VEGFR2 mediated cell proliferation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS | 0.32 | 1 | 1 | CLINVAR_MGD_UNIPROT |
| Kashin-Beck Disease | 0.120271442 | 1 | 1 | BeFree_GWASCAT |
| Cardiomegaly | 0.12 | 1 | 0 | CTD_human |
| Brain Hypoxia | 0.12 | 1 | 0 | CTD_human |
| Amyotrophic Lateral Sclerosis | 0.007729856 | 2 | 1 | BeFree_GAD_LHGDN |
| Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
| Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
| Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 0 | GAD |
| Amyotrophic Lateral Sclerosis, Sporadic | 0.001085767 | 4 | 5 | BeFree |
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