1. Gene
  2. CSRP3 - cysteine and glycine rich protein 3 Gene

CSRP3 - cysteine and glycine rich protein 3 Gene

中文名称:富半胱氨酸和甘氨酸的蛋白质 3

种属: Homo sapiens

同用名: CLP; MLP; CRP3; LMO4; CMD1M; CMH12

基因 ID: 8048 | 基因类型: protein coding

关于 CSRP3

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:19,182,030-19,201,983 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Restricted expression toward heart (RPKM 715.6).

功能概要

该基因编码 LIM 域蛋白的 CSRP 家族成员,可能参与对发育和细胞分化很重要的调节过程。在该蛋白质中发现的 LIM/双锌指基序存在于一组在基因调控、细胞生长和体细胞分化中具有关键功能的蛋白质中。该基因的突变被认为会导致人类肥厚型心肌病 (HCM) 和扩张型心肌病 (DCM) 的遗传形式。已经发现该基因具有不同 5' UTR 但编码相同蛋白质的选择性剪接转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

CSRP3 基因产物(2)

mRNA Protein Name
NM_001369404.1 NP_001356333.1 cysteine and glycine-rich protein 3 isoform 2
NM_003476.5 NP_003467.1 cysteine and glycine-rich protein 3 isoform 1

CSRP3 蛋白结构

LIM

LIM: LIM domain (10 - 65)

LIM

LIM: LIM domain (120 - 176)

  • 0
  • 100
  • 194 a.a.
蛋白主名 其他名称

cysteine and glycine-rich protein 3

LIM domain only 4

CSRP3 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
CSRP3 P50461 CFL2 Homo sapiens Q9Y281 24860983
种属内
CSRP3 P50461 GNB2 Homo sapiens P62879 33961781
种属内
CSRP3 P50461 ACTN2 Homo sapiens P35609 24860983
种属内
CSRP3 P50461 TCAP Homo sapiens O15273
Y2H
15582318
种属内
CSRP3 P50461 ACTN2 Homo sapiens P35609 15205937
种属内
CSRP3 P50461 TCAP Homo sapiens O15273 15582318
种属内
CSRP3 P50461 SMPDL3B Homo sapiens Q92485 33961781
种属内
CSRP3 P50461 NRAP Homo sapiens Q86VF7 15205937
种属内
CSRP3 P50461 CSRP3 Homo sapiens P50461 24860983
种属内
CSRP3 P50461 NME2 Homo sapiens P22392 33961781
种属内
CSRP3 P50461 XPNPEP1 Homo sapiens Q9NQW7 33961781
种属内
CSRP3 P50461 RIN3 Homo sapiens Q8TB24 25814554
种属内
CSRP3 P50461 MYOD1 Homo sapiens P15172 24860983
种属内
CSRP3 P50461 TCAP Homo sapiens O15273 24860983
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
Cardiomyopathy, Familial Hypertrophic, 12

Hypertrophic Cardiomyopathy 12

CMH12

Cardiomyopathy, Hypertrophic, 12

Cardiomyopathy Familial Hypertrophic 12

Cardiomyopathy, Familial Hypertrophic 12

Cardiomyopathy, Hypertrophic, Familial, Type 12

Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m

CMD1M

Cardiomyopathy, Dilated 1m

Cardiomyopathy, Dilated, Type 1m

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

Familial Isolated Dilated Cardiomyopathy

Familial Or 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

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Cardiomyopathy, Familial Hypertrophic, 7

Hypertrophic Cardiomyopathy 7

CMH7

Cardiomyopathy, Familial Hypertrophic 7

Cardiomyopathy, Hypertrophic, 7

Cardiomyopathy, Hypertrophic, Familial, Type 7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

Intrinsic Cardiomyopathy
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Familial Isolated Hypoparathyroidism

Fih

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

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

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

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

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]

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

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
Rattus norvegicus CSRP3 RGD RGD:71092
Mus musculus CSRP3 MGD MGI:1330824
Felis catus CSRP3 VGNC VGNC:61234
Macaca mulatta CSRP3 VGNC VGNC:71529
Bos taurus CSRP3 VGNC VGNC:27775
Canis familiaris CSRP3 VGNC VGNC:39676