CAVIN4 - caveolae associated protein 4 Gene

中文名称：细胞膜穴样内陷相关蛋白 4

种属: Homo sapiens

同用名: MURC; cavin-4

基因 ID: 347273 | 基因类型: protein coding

关于 CAVIN4

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:100,576,867-100,588,389 (from NCBI)

This gene has 1 transcript (splice variant), 273 orthologues and 3 paralogues. Biased expression in heart (RPKM 18.1), prostate (RPKM 5.6) and 2 other tissues.

功能概要

该基因编码包含两个卷曲螺旋区域的蛋白质。编码的蛋白质促进心肌细胞中的 Rho/ROCK (Rho 激酶) 信号传导，并可能促进肌原纤维组织。[RefSeq 提供，2013 年 6 月]

This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]

CAVIN4 基因产物(1)

mRNA	Protein	Name
NM_001018116.2	NP_001018126.1	caveolae-associated protein 4

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 protein binding	IPI IPI: 通过物理相互作用推断	24567387	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of gene expression	IMP IMP: 通过突变表型推断	21642240	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in caveola	IDA IDA: 通过直接分析推断	19525939	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	26497963	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

CAVIN4 蛋白结构

PTRF_SDPR

0
100
200
300
364 a.a.

蛋白主名

其他名称

caveolae-associated protein 4

muscle related coiled-coil protein

CAVIN4 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	CAVIN4	Q5BKX8	ZGPAT	Homo sapiens	Q8N5A5-2	Validated Y2H	32296183
种属内	CAVIN4	Q5BKX8	NTAQ1	Homo sapiens	Q96HA8	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

Lipodystrophy, Congenital Generalized, Type 4

Congenital Generalized Lipodystrophy Type 4	CGL4
Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy	Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy
Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy	Generalized Congenital Lipodystrophy With Myopathy
Congenital Generalised Lipodystrophy Type 4	Generalised Congenital Lipodystrophy Type 4
Generalised Congenital Lipodystrophy With Myopathy	Generalized Congenital Lipodystrophy Type 4
Gcl4	Congenital Generalized Lipodystrophy 4
Berardinelli-Seip Congenital Lipodystrophy Type 4

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy	Nam
MYPBB	Myopathy, Congenital, Baily-Bloch
Anti-Hmg-Coa Myopathy	Anti-Srp Myopathy
Autoimmune Necrotizing Myositis	Imnm
Immune Myopathy With Myocyte Necrosis	Immune-Mediated Necrotizing Myopathy
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia	Necrotizing Autoimmune Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome	Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Alzheimer Disease 8

Ad8	Alzheimer'S Disease 8
Alzheimer Disease, Familial, 8	Alzheimer Disease, Familial 8
Alzheimer'S Disease 8, Late Onset

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy	Berardinelli-Seip Syndrome
Brunzell Syndrome	Bscl
Generalized Lipodystrophy	Lipodystrophy, Congenital Generalized
Seip Syndrome	Total Lipodystrophy
Cgl	Lipoatrophic Diabetes
Lipodystrophy, Generalized, Congenital	Familial Generalized Lipodystrophy
Congenital Generalized Lipodystrophy Type 2	Lipoatrophic Diabetes Mellitus
Familial Partial Lipodystrophy, Type 2

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

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-RS01991	CAVIN4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CAVIN4	RGD	RGD:1310395
Mus musculus	CAVIN4	MGD	MGI:1915266
Canis familiaris	CAVIN4	VGNC	VGNC:38756
Felis catus	CAVIN4	VGNC	VGNC:102905
Bos taurus	CAVIN4	VGNC	VGNC:26805

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