2. Gene
  3. ITPR2 - inositol 1,4,5-trisphosphate receptor type 2 Gene

ITPR2 - inositol 1,4,5-trisphosphate receptor type 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌醇 1,4,5-三磷酸受体 2 型

种属: Homo sapiens

同用名: ANHD; IP3R2; CFAP48; INSP3R2

基因 ID: 3709 | 基因类型: protein coding

关于 ITPR2

Cytogenetic location: 12p11.23 Genomic coordinates (GRCh38): 12:26,335,352-26,833,194 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 15.0), kidney (RPKM 7.5) and 25 other tissues.

功能概要

该基因编码的蛋白质属于肌醇 1,4,5-三磷酸受体家族，其成员是第二信使细胞内钙释放通道。这些蛋白质介导细胞质钙的升高，以响应受体激活的肌醇三磷酸的产生。肌醇三磷酸受体介导的信号转导涉及许多过程，包括细胞迁移、细胞分裂、平滑肌收缩和神经元信号转导。这种蛋白质是一种 2 型受体，由一个结合肌醇三磷酸的细胞质氨基末端、六个形成离子孔的跨膜螺旋和一个短的细胞质羧基末端组成。该基因的突变与无汗症有关，表明由该蛋白介导的细胞内钙释放是外分泌汗液产生所必需的。[RefSeq 提供，2015 年 4 月]

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]

ITPR2 基因产物(3)

mRNA Protein Name
NM_001414174.1 NP_001401103.1 inositol 1,4,5-trisphosphate receptor type 2 isoform 2
NM_001414175.1 NP_001401104.1 inositol 1,4,5-trisphosphate receptor type 2 isoform 3
NM_002223.4 NP_002214.2 inositol 1,4,5-trisphosphate receptor type 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables inositol 1,4,5-trisphosphate-gated calcium channel activity IMP
IMP: 通过突变表型推断
25329695 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
11782428 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
18068335 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in response to hypoxia IDA
IDA: 通过直接分析推断
19120137 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
10828023 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 GOA
located in sarcoplasmic reticulum membrane IMP
IMP: 通过突变表型推断
10828023 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ITPR2 蛋白结构

Ins145_P3_rec

Ins145_P3_rec: Inositol 1,4,5-trisphosphate/ryanodine receptor (5 - 227)

MIR

MIR: MIR domain (233 - 431)

RYDR_ITPR

RYDR_ITPR: RIH domain (472 - 675)

RYDR_ITPR

RYDR_ITPR: RIH domain (1187 - 1352)

RIH_assoc

RIH_assoc: RyR and IP3R Homology associated (1913 - 2026)

Ion_trans

Ion_trans: Ion transport protein (2336 - 2540)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2701 a.a.
蛋白主名 其他名称

inositol 1,4,5-trisphosphate receptor type 2

IP3 receptor

关联疾病

疾病名称 别名
Anhidrosis, Isolated, With Normal Sweat Glands

Isolated Anhidrosis With Normal Sweat Glands

Dann-Epstein-Sohar Syndrome

ANHD

Isolated Generalized Anhidrosis With Normal Sweat Glands

Anhidrosis, Familial Generalized, With Normal Sweat Glands
Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis
Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability
Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06992 ITPR2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20971 Itpr2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27488 Itpr2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ITPR2 VGNC VGNC:73805
Felis catus ITPR2 VGNC VGNC:67870
Mus musculus ITPR2 MGD MGI:99418
Bos taurus ITPR2 VGNC VGNC:30347
Canis familiaris ITPR2 VGNC VGNC:42158
Rattus norvegicus ITPR2 RGD RGD:69649
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