Entity Details

Primary name CSRP3
Entity type gene
Source Source Link

Details

PrimaryID8048
RefseqGeneNG_011932
SymbolCSRP3
Namecysteine and glycine rich protein 3
Chromosome11
Location11p15.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCSRP3_HUMAN

GO terms

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GOName
GO:0002026 regulation of the force of heart contraction
GO:0003300 cardiac muscle hypertrophy
GO:0003779 actin binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0006874 cellular calcium ion homeostasis
GO:0006954 inflammatory response
GO:0007519 skeletal muscle tissue development
GO:0008286 insulin receptor signaling pathway
GO:0008307 structural constituent of muscle
GO:0030018 Z disc
GO:0030036 actin cytoskeleton organization
GO:0031433 telethonin binding
GO:0033292 T-tubule organization
GO:0033365 protein localization to organelle
GO:0035995 detection of muscle stretch
GO:0042593 glucose homeostasis
GO:0042802 identical protein binding
GO:0042805 actinin binding
GO:0045214 sarcomere organization
GO:0045662 negative regulation of myoblast differentiation
GO:0045663 positive regulation of myoblast differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048738 cardiac muscle tissue development
GO:0055003 cardiac myofibril assembly
GO:0060048 cardiac muscle contraction
GO:0060537 muscle tissue development
GO:0070528 protein kinase C signaling
GO:1903076 regulation of protein localization to plasma membrane
GO:1903919 negative regulation of actin filament severing
GO:1903920 positive regulation of actin filament severing

Diseases

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Disease IDSourceNameDescription
612124 OMIMCardiomyopathy, familial hypertrophic 12 (CMH12)A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.
607482 OMIMCardiomyopathy, dilated 1M (CMD1M)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.