1. Gene
  2. TRPC4 - transient receptor potential cation channel subfamily C member 4 Gene

TRPC4 - transient receptor potential cation channel subfamily C member 4 Gene

中文名称:瞬时受体电位阳离子通道亚家族 C 成员 4

种属: Homo sapiens

同用名: TRP4; HTRP4; HTRP-4

基因 ID: 7223 | 基因类型: protein coding

关于 TRPC4

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:37,632,063-37,869,772 (from NCBI)

This gene has 10 transcripts (splice variants), 279 orthologues and 5 paralogues. Biased expression in endometrium (RPKM 6.2), prostate (RPKM 2.5) and 8 other tissues.

功能概要

该基因编码瞬时受体电位阳离子通道的典型亚科成员。编码的蛋白质形成一个非选择性钙渗透性阳离子通道,该通道被 Gq 偶联受体和酪氨酸激酶激活,并在内皮渗透性、血管舒张、神经递质释放和细胞增殖等多个过程中发挥作用。该基因的单核苷酸多态性可能与光敏性全身性癫痫有关。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

TRPC4 基因产物(9)

mRNA Protein Name
NM_001135955.3 NP_001129427.1 short transient receptor potential channel 4 isoform beta
NM_001135956.3 NP_001129428.1 short transient receptor potential channel 4 isoform gamma
NM_001135957.3 NP_001129429.1 short transient receptor potential channel 4 isoform delta
NM_001135958.3 NP_001129430.1 short transient receptor potential channel 4 isoform zeta
NM_001354799.2 NP_001341728.1 short transient receptor potential channel 4 isoform eta
NM_001354806.2 NP_001341735.1 short transient receptor potential channel 4 isoform eta
NM_001372055.1 NP_001358984.1 short transient receptor potential channel 4 isoform eta
NM_003306.3 NP_003297.1 short transient receptor potential channel 4 isoform epsilon
NM_016179.4 NP_057263.1 short transient receptor potential channel 4 isoform alpha
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 beta-catenin binding IPI
IPI: 通过物理相互作用推断
19996314 GOA
enables cadherin binding IPI
IPI: 通过物理相互作用推断
19996314 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15757897 GOA
enables store-operated calcium channel activity IMP
IMP: 通过突变表型推断
16254212 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion import IDA
IDA: 通过直接分析推断
19996314 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
19996314 GOA
part of calcium channel complex IDA
IDA: 通过直接分析推断
20164195 GOA
located in cell surface IDA
IDA: 通过直接分析推断
19996314 GOA
colocalizes with cell-cell junction IDA
IDA: 通过直接分析推断
19996314 GOA
located in cortical cytoskeleton IDA
IDA: 通过直接分析推断
16254212 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16254212 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

TRPC4 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (38 - 119)

Ank

Ank: Ankyrin repeat (143 - 168)

TRP_2

TRP_2: Transient receptor ion channel II (176 - 238)

Ion_trans

Ion_trans: Ion transport protein (405 - 620)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 977 a.a.
蛋白主名 其他名称

short transient receptor potential channel 4

trp-related protein 4

TRPC4 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
TRPC4 Q9UBN4 MX1 Homo sapiens P20591
Anti Tag CoIP
15757897
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
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Oculoectodermal Syndrome

Aplasia Cutis Congenita With Epibulbar Dermoids

Toriello-Lacassie-Droste Syndrome

Oculoectodermal Syndrome, Somatic

OES

Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome

Oculo-Ectodermal Syndrome

Toriello Lacassie Droste Syndrome

Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

Combined Immunodeficiency Due To Stim1 Deficiency

IMD10

Stim1 Deficiency

Cid Due To Stim1 Deficiency

Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency
Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 1

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus TRPC4 VGNC VGNC:36383
Mus musculus TRPC4 MGD MGI:109525
Canis familiaris TRPC4 VGNC VGNC:47868
Macaca mulatta TRPC4 VGNC VGNC:106307
Rattus norvegicus TRPC4 RGD RGD:621276
Felis catus TRPC4 VGNC VGNC:66583
Others TRPC4 NCBI