JPH2 - junctophilin 2 Gene

中文名称：亲连接素 2

种属: Homo sapiens

同用名: JP2; JP-2; CMD2E; CMH17

基因 ID: 57158 | 基因类型: protein coding

关于 JPH2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:44,106,590-44,187,188 (from NCBI)

This gene has 2 transcripts (splice variants), 218 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 14.9), prostate (RPKM 9.1) and 11 other tissues.

功能概要

质膜和内质/肌浆网之间的连接复合物是所有可兴奋细胞类型的共同特征，并介导细胞表面和细胞内离子通道之间的串扰。由该基因编码的蛋白质是连接复合物的一个组成部分，由跨越内质/肌质网膜的 C 末端疏水片段和对质膜显示特异性亲和力的剩余细胞质结构域组成。该基因是 junctophilin 基因家族的成员。已在该位点观察到可变剪接，并描述了编码不同亚型的两种变体。[RefSeq 提供，2008 年 7 月]

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

JPH2 基因产物(2)

mRNA	Protein	Name
NM_020433.5	NP_065166.2	junctophilin-2 isoform 1
NM_175913.4	NP_787109.2	junctophilin-2 isoform 2

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 phosphatidic acid binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-3-phosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-4-phosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylinositol-5-phosphate binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables phosphatidylserine binding	IDA IDA: 通过直接分析推断	24001019	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20095964	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium ion homeostasis	IDA IDA: 通过直接分析推断	20095964	GOA
involved in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA IDA: 通过直接分析推断	20095964	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	30409805	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

JPH2 蛋白结构

MORN

0
200
400
600
696 a.a.

蛋白主名

其他名称

junctophilin-2

junctophilin type 2

关联疾病

疾病名称

别名

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17	CMH17
Cardiomyopathy, Hypertrophic, 17	Cardiomyopathy Familial Hypertrophic 17
Cardiomyopathy, Familial Hypertrophic 17	Cardiomyopathy, Hypertrophic, Familial, Type 17

Cardiomyopathy, Dilated, 2e

CMD2E	Dilated Cardiomyopathy 2e
Cardiomyopathy, Dilated 2e

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Periodontosis

Periodontitis, Juvenile	Parodontosis
Paradentosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07046	JPH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	JPH2	VGNC	VGNC:30381
Mus musculus	JPH2	MGD	MGI:1891496
Canis familiaris	JPH2	VGNC	VGNC:54651
Macaca mulatta	JPH2	VGNC	VGNC:84918
Felis catus	JPH2	VGNC	VGNC:109568
Rattus norvegicus	JPH2	RGD	RGD:1305196

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

JPH2 - junctophilin 2 Gene

关于 JPH2

功能概要

JPH2 基因产物(2)

JPH2 蛋白结构

关联疾病

直系同源

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JPH2 - junctophilin 2 Gene

关于 JPH2

功能概要

JPH2 基因产物(2)

JPH2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z