2. Gene
  3. JPH4 - junctophilin 4 Gene

JPH4 - junctophilin 4 Gene

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

中文名称：亲连接蛋白 4

种属: Homo sapiens

同用名: JP4; JPHL1

基因 ID: 84502 | 基因类型: protein coding

关于 JPH4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,568,038-23,578,790 (from NCBI)

This gene has 4 transcripts (splice variants), 106 orthologues and 3 paralogues. Biased expression in brain (RPKM 34.3), endometrium (RPKM 8.7) and 3 other tissues.

功能概要

该基因编码跨膜蛋白的 junctophilin 家族成员，该蛋白参与可兴奋细胞中质膜和内质/肌浆网之间连接膜复合物的形成。编码的蛋白质包含一个保守的 N 末端重复区域，称为膜占据和识别连接序列，在 junctophilin 家族的其他成员中发现。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 3 月]

This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in Other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

JPH4 基因产物(2)

mRNA Protein Name
NM_001146028.2 NP_001139500.1 junctophilin-4
NM_032452.3 NP_115828.2 junctophilin-4
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

JPH4 蛋白结构

MORN

MORN: MORN repeat (15 - 33)

MORN

MORN: MORN repeat (39 - 59)

MORN

MORN: MORN repeat (61 - 77)

MORN

MORN: MORN repeat (83 - 104)

MORN

MORN: MORN repeat (106 - 128)

MORN

MORN: MORN repeat (129 - 146)

MORN

MORN: MORN repeat (282 - 304)

MORN

MORN: MORN repeat (305 - 327)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 628 a.a.
蛋白主名 其他名称

junctophilin-4

JP-4

JPH4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
JPH4 Q96JJ6 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
种属内
JPH4 Q96JJ6 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2
Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis

Stormorken-Sjaastad-Langslet Syndrome

STRMK

York Platelet Syndrome

Yps

Thrombocytopathy, Asplenia And Miosis

Thrombocytopathy Asplenia Miosis

Thrombocytopathy-Asplenia-Miosis Syndrome

Miosis Disorder
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07048 JPH4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta JPH4 VGNC VGNC:84363
Mus musculus JPH4 MGD MGI:2443113
Felis catus JPH4 VGNC VGNC:63013
Rattus norvegicus JPH4 RGD RGD:1303170
Bos taurus JPH4 VGNC VGNC:30383
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