TRPC3 - transient receptor potential cation channel subfamily C member 3 Gene

中文名称：瞬时受体电位阳离子通道亚家族 C 成员 3

种属: Homo sapiens

同用名: TRP3; SCA41

基因 ID: 7222 | 基因类型: protein coding

关于 TRPC3

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:121,874,481-121,952,060 (from NCBI)

This gene has 5 transcripts (splice variants), 160 orthologues, 5 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种膜蛋白，可形成可渗透钙和其他阳离子的非选择性通道。编码的蛋白质似乎被受体酪氨酸激酶激活的磷脂酰肌醇第二信使系统以及细胞内钙储存的耗尽诱导形成通道。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2011 年 10 月]

The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TRPC3 基因产物(3)

mRNA	Protein	Name
NM_001130698.2	NP_001124170.1	short transient receptor potential channel 3 isoform a
NM_001366479.2	NP_001353408.1	short transient receptor potential channel 3 isoform e
NM_003305.2	NP_003296.1	short transient receptor potential channel 3 isoform b

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 binding	IDA IDA: 通过直接分析推断	14505576	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10611319	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium ion transmembrane transport	IDA IDA: 通过直接分析推断	21062895	GOA
involved in positive regulation of calcium ion transport into cytosol	IDA IDA: 通过直接分析推断	21062895	GOA
involved in positive regulation of cardiac muscle hypertrophy in response to stress	IDA IDA: 通过直接分析推断	19287093	GOA
involved in response to ATP	IDA IDA: 通过直接分析推断	21062895	GOA
involved in response to calcium ion	IDA IDA: 通过直接分析推断	21062895	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	9368034	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

TRPC3 蛋白结构

Ank_2

TRP_2

Ion_trans

0
200
400
600
800
921 a.a.

蛋白主名

其他名称

short transient receptor potential channel 3

hTrp-3

关联疾病

疾病名称

别名

Spinocerebellar Ataxia 41

Spinocerebellar Ataxia Type 41	SCA41
Ataxia, Spinocerebellar, Type 41

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14	SCA14
Ataxia, Spinocerebellar, Type 14

Cerebellar Ataxia Type 41

Sca41

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

Progressive Familial Heart Block

Hereditary Bundle Branch Defect	Hereditary Bundle Branch System Defect
Familial Lenegre Disease	Familial Lev Disease
Familial Lev-Lenegre Disease	Familial Pccd
Familial Progressive Heart Block	Pfhb
Bundle Branch Block	Hbbd
Lenegre Lev Disease	Lev Syndrome
Lev'S Disease	Lev-Lenègre Disease
Pccd	Progressive Cardiac Conduction Defect
Bundle-Branch Block

Sialolithiasis

Sialolith	Stone Of Salivary Gland Or Duct
Salivary Gland Calculi	Salivary Gland Stone
Calculus Of Salivary Gland Or Duct	Calculus Of Salivary Gland
Salivary Calculus	Salivary Gland Calculus
Salivary Stone	Salivary Duct Calculi
Sialodocholithiasis

Mucolipidosis Iv

Mucolipidosis Type Iv	ML4
Sialolipidosis	Mucolipidosis Type 4
Ganglioside Sialidase Deficiency	Mliv
Ml Iv	Berman Syndrome
Ganglioside Neuraminidase Deficiency	Ml 4
Mucolipidosis 4	Type Iv Mucolipidosis
Gangliosidoses

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

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

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]

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

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

目录号	产品名	作用方式	纯度	Phase
HY-P2141	TRV-120027	Agonist	99.46%	Phase 2
HY-P2141A	TRV-120027 TFA	Agonist	99.69%	Phase 2

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-111925	BI-749327	Antagonist	99.50%	否
HY-108465	Pyr3	Inhibitor	99.90%	否
HY-101507	Pico145	Inhibitor	99.40%	否
HY-111098	GSK1702934A	Agonist	≥99.0%	否
HY-19408	Pyr10	Inhibitor	99.42%	否
HY-12504	Pyr6	Inhibitor	98.47%	否
HY-120818	TRPC3/6-IN-3		/	否
HY-121519	GSK2332255B	Antagonist	/	否
HY-133528	OptoBI-1	Agonist	/	否
HY-138668	JW-65	Inhibitor	/	否
HY-147357	TRPC3/6-IN-1	Inhibitor	/	否
HY-153455	TRPC3/6-IN-2	Inhibitor	/	否
HY-161766	L687	Activator	/	否
HY-162090	TRPC antagonist 1	Antagonist	/	否
HY-RS15105	TRPC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-111527	PPZ2		/	否
HY-126424	OptoDArG		/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	TRPC3	VGNC	VGNC:47867
Macaca mulatta	TRPC3	VGNC	VGNC:78652
Bos taurus	TRPC3	VGNC	VGNC:36382
Mus musculus	TRPC3	MGD	MGI:109526
Rattus norvegicus	TRPC3	RGD	RGD:61973
Felis catus	TRPC3	VGNC	VGNC:66582
Others	TRPC3	NCBI

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