CSRP3 Gene (Protein Coding)

Cysteine And Glycine Rich Protein 3

GC11M019160
GIFtS:
42
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 ... See more...

Aliases for CSRP3 Gene

Aliases for CSRP3 Gene

  • Cysteine And Glycine Rich Protein 3 2 3 5
  • Cysteine And Glycine-Rich Protein 3 3 4
  • Cardiac LIM Protein 2 4
  • CRP3 3 4
  • CLP 3 4
  • MLP 3 4
  • Cysteine And Glycine-Rich Protein 3 (Cardiac LIM Protein) 3
  • LIM Domain Protein, Cardiac 4
  • Cardiac LIM Domain Protein 3
  • Muscle Lim Protein Isoform 3
  • Cysteine-Rich Protein 3 4
  • Muscle LIM Protein 4
  • LIM Domain Only 4 3
  • CMD1M 3
  • CMH12 3
  • LMO4 3

External Ids for CSRP3 Gene

Previous GeneCards Identifiers for CSRP3 Gene

  • GC11M020365
  • GC11M020147
  • GC11M019243
  • GC11M019168
  • GC11M018887

Summaries for CSRP3 Gene

Entrez Gene Summary for CSRP3 Gene

  • 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]

GeneCards Summary for CSRP3 Gene

CSRP3 (Cysteine And Glycine Rich Protein 3) is a Protein Coding gene. Diseases associated with CSRP3 include Cardiomyopathy, Familial Hypertrophic, 12 and Cardiomyopathy, Dilated, 1M. Gene Ontology (GO) annotations related to this gene include structural constituent of muscle and telethonin binding. An important paralog of this gene is CSRP1.

UniProtKB/Swiss-Prot Summary for CSRP3 Gene

  • Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity).
  • Isoform 2: May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization.

Gene Wiki entry for CSRP3 Gene

Additional gene information for CSRP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSRP3 Gene

Genomics for CSRP3 Gene

GeneHancer (GH) Regulatory Elements for CSRP3 Gene

Promoters and enhancers for CSRP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J019198 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 750.4 +10.1 10098 5.1 ZNF148 MNT NR2F1 FOSL1 NR2F2 ZNF366 CSRP3 E2F8 ENSG00000255308-001
GH11J019172 Enhancer 1 VISTA dbSUPER 11.9 +36.8 36808 2.5 TEAD4 CBFA2T2 TRIM24 PKNOX1 EP300 SOX6 ZNF766 E2F5 ZSCAN29 GABPA ZDHHC13 GTF2H1 CSRP3-AS1 CSRP3 ENSG00000256282 piR-38579-009 HSALNG0083042
GH11J019206 Enhancer 0.8 VISTA Ensembl dbSUPER 0.6 +2.3 2330 3.7 USF1 E2F8 CSRP3 ENSG00000255308-001
GH11J019216 Enhancer 1 VISTA Ensembl ENCODE dbSUPER 0.4 -8.1 -8055 3.7 CEBPB NFYB GATA3 CEBPG ATF2 ATF7 E2F8 CSRP3-AS1 ZDHHC13 CSRP3 lnc-CSRP3-1 ENSG00000255308-001
GH11J019191 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 +18.6 18617 1.3 RAD21 SP1 TFE3 RXRA JUND NR2C2 YY1 NR2F2 HNF4A MAX ENSG00000254966 ENSG00000255308-001 piR-38579-009 CSRP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSRP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSRP3 gene promoter:
  • FOXL1
  • Hlf
  • NF-1
  • RORalpha1
  • Sox9

Genomic Locations for CSRP3 Gene

Genomic Locations for CSRP3 Gene
chr11:19,182,030-19,210,571
(GRCh38/hg38)
Size:
28,542 bases
Orientation:
Minus strand
chr11:19,203,578-19,232,120
(GRCh37/hg19)
Size:
28,543 bases
Orientation:
Minus strand

Genomic View for CSRP3 Gene

Genes around CSRP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSRP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSRP3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CSRP3 Gene

Proteins for CSRP3 Gene

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  • Protein details for CSRP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50461-CSRP3_HUMAN
    Recommended name:
    Cysteine and glycine-rich protein 3
    Protein Accession:
    P50461
    Secondary Accessions:
    • Q9P131
    • S4S7M7

    Protein attributes for CSRP3 Gene

    Size:
    194 amino acids
    Molecular mass:
    20969 Da
    Quaternary structure:
    • Self-associates. Oligomeric in the cytoplasm and monomeric in the nucleus (By similarity). Homooligomers preferentially form along the actin cytoskeleton. Isoform 2 interacts with isoform 1 (PubMed:24934443, PubMed:24860983). Isoform 1 but not isoform 2 interacts with MYOD1 and MYOG. Isoform 1 interacts with TCAP, ACTN2 and NRAP. Isoform 2 interacts with TCAP and alpha-actinin (PubMed:24860983, PubMed:15582318, PubMed:15205937, PubMed:12507422). Interacts with LDHD. Interacts (via N-terminus)with GLRX3 (via C-terminus) and PPP3CA; GLRX3 and calcineurin compete for interaction with CSRP3. Interacts with MYF6 (By similarity). Interacts with CFL2; the stoichiometry influences F-actin depolymerization and possibly two molecules of CFL2 can interact with one molecule of CSRP3 resulting in the highest functional impact; the interaction is stronger with phosphorylated CFL2 (PubMed:19752190).

    Three dimensional structures from OCA and Proteopedia for CSRP3 Gene

    Alternative splice isoforms for CSRP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSRP3 Gene

Protein Expression for CSRP3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CSRP3 Gene

Other Protein References for CSRP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CSRP3

No data available for DME Specific Peptides for CSRP3 Gene

Domains & Families for CSRP3 Gene

Gene Families for CSRP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CSRP3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CSRP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93801, Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIMprotein) (CSRP3), mRNA (A2TDB8_HUMAN)
  • Muscle LIM protein (CSRP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50461

UniProtKB/Swiss-Prot:

CSRP3_HUMAN :
  • LIM zinc-binding domain 1 is required for self-association. LIM zinc-binding domain 1 and LIM zinc-binding domain 2 both are required for optimal actin-bundling activity (PubMed:24934443). LIM zinc-binding domain 1 mediates binding to MYOD1. LIM zinc-binding domain 2 mediates binding to SPTB (By similarity).
Domain:
  • LIM zinc-binding domain 1 is required for self-association. LIM zinc-binding domain 1 and LIM zinc-binding domain 2 both are required for optimal actin-bundling activity (PubMed:24934443). LIM zinc-binding domain 1 mediates binding to MYOD1. LIM zinc-binding domain 2 mediates binding to SPTB (By similarity).
genes like me logo Genes that share domains with CSRP3: view

Function for CSRP3 Gene

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Molecular function for CSRP3 Gene

UniProtKB/Swiss-Prot Function:
Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2: May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization.
GENATLAS Biochemistry:
Lim only domain protein,cysteine and glycine rich,expressed in cardiac and skeletal muscles,likely involved in the determination of cell lineage and regulation of cell differentiation

Phenotypes From GWAS Catalog for CSRP3 Gene

Gene Ontology (GO) - Molecular Function for CSRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12127981
GO:0008307 structural constituent of muscle IMP 12507422
GO:0031433 telethonin binding IPI 15582318
GO:0042802 identical protein binding IPI 24860983
genes like me logo Genes that share ontologies with CSRP3: view
genes like me logo Genes that share phenotypes with CSRP3: view

Human Phenotype Ontology for CSRP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CSRP3 Gene

MGI Knock Outs for CSRP3:

Animal Model Products

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CSRP3 Gene

Localization for CSRP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSRP3 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere. Note=Nucleocytoplasmic shuttling protein. Mainly cytoplasmic. In the Z line, found associated with GLRX3 (By similarity). {ECO:0000250 UniProtKB:P50462, ECO:0000250 UniProtKB:P50463}.
Isoform 2: Cytoplasm, myofibril, sarcomere, Z line.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSRP3 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CSRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0030017 sarcomere IEA --
GO:0030018 Z disc IDA 12507422
genes like me logo Genes that share ontologies with CSRP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSRP3 Gene

Pathways & Interactions for CSRP3 Gene

PathCards logo

SuperPathways for CSRP3 Gene

No Data Available

SIGNOR curated interactions for CSRP3 Gene

Activates:

Gene Ontology (GO) - Biological Process for CSRP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction ISS --
GO:0003300 cardiac muscle hypertrophy IMP 12507422
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006954 inflammatory response IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CSRP3: view

No data available for Pathways by source for CSRP3 Gene

Drugs & Compounds for CSRP3 Gene

Products:

  1. Drug

(1) Drugs for CSRP3 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with CSRP3: view

Transcripts for CSRP3 Gene

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  1. CRISPR
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  3. Inhibitory RNA
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mRNA/cDNA for CSRP3 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(131) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSRP3 Gene

No ASD Table

Relevant External Links for CSRP3 Gene

GeneLoc Exon Structure for
CSRP3
ECgene alternative splicing isoforms for
CSRP3

Expression for CSRP3 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSRP3 Gene

mRNA expression in normal human tissues for CSRP3 Gene
mRNA expression by BioGPS for CSRP3 GenemRNA expression by GTEx for CSRP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSRP3 Gene

This gene is overexpressed in Heart - Left Ventricle (x28.5), Heart - Atrial Appendage (x13.9), and Muscle - Skeletal (x9.2).

Protein differential expression in normal tissues from HIPED for CSRP3 Gene

This gene is overexpressed in Heart (34.2) and Fetal heart (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSRP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CSRP3 Gene:

CSRP3

SOURCE GeneReport for Unigene cluster for CSRP3 Gene:

Hs.83577

mRNA Expression by UniProt/SwissProt for CSRP3 Gene:

P50461-CSRP3_HUMAN
Tissue specificity: Cardiac and slow-twitch skeletal muscles. Isoform 2 is expressed in striated muscle. Isoform 2 is specifically expressed at higher levels in patients with neuromuscular diseases, such as limb-girdle muscular dystrophy 2A (LGMD2A), Duchenne muscular dystrophy (DMD) and dermatomyositis (PubMed:24860983).

Evidence on tissue expression from TISSUES for CSRP3 Gene

  • Heart(4.8)
  • Muscle(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSRP3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with CSRP3: view

No data available for Protein tissue co-expression partners for CSRP3 Gene

Orthologs for CSRP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSRP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CSRP3 33 32
  • 99.83 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia oan-mir-7434 33
  • 96 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Csrp3 17 33 32
  • 91.24 (n)
dog
(Canis familiaris)
 Mammalia CSRP3 33 32
  • 91.07 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CSRP3 33 32
  • 90.5 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Csrp3 32
  • 89.86 (n)
oppossum
(Monodelphis domestica)
 Mammalia CSRP3 33
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CSRP3 33 32
  • 79.27 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CSRP3 33
  • 89 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia csrp3 32
  • 75.35 (n)
African clawed frog
(Xenopus laevis)
 Amphibia csrp3-A-prov 32
zebrafish
(Danio rerio)
 Actinopterygii csrp3 33 32
  • 68.67 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Mlp60A 33 32
  • 55.89 (n)
 ManyToMany
Mlp84B 33 34
  • 18 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea mlp-1 33
  • 50 (a)
 OneToMany
Species where no ortholog for CSRP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CSRP3 Gene

ENSEMBL:
Gene Tree for CSRP3 (if available)
TreeFam:
Gene Tree for CSRP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSRP3: view image

Paralogs for CSRP3 Gene

Paralogs for CSRP3 Gene

(5) SIMAP similar genes for CSRP3 Gene using alignment to 2 proteins:

  • CSRP3_HUMAN
  • A2TDB8_HUMAN
genes like me logo Genes that share paralogs with CSRP3: view

Variants for CSRP3 Gene

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Sequence variations from dbSNP and Humsavar for CSRP3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894204 pathogenic, Familial hypertrophic cardiomyopathy 12, Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124] 19,188,245(-) A/C coding_sequence_variant, intron_variant, missense_variant
rs104894205 pathogenic, uncertain-significance, likely-pathogenic, Familial hypertrophic cardiomyopathy 12, not specified, Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy, Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124] 19,188,286(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs1060500131 uncertain-significance, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12 19,192,399(-) A/T coding_sequence_variant, missense_variant
rs111868331 uncertain-significance, not specified, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12 19,182,711(-) C/G coding_sequence_variant, missense_variant
rs112848043 benign, likely-benign, not specified, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12, Cardiovascular phenotype, Cardiomyopathy 19,188,255(-) C/T coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CSRP3 Gene

Variant ID Type Subtype PubMed ID
esv2744177 CNV deletion 23290073
esv3625533 CNV loss 21293372
nsv1041249 CNV gain 25217958

Variation tolerance for CSRP3 Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSRP3 Gene

Human Gene Mutation Database (HGMD)
CSRP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSRP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSRP3 Gene

Disorders for CSRP3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CSRP3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 12
  • cmh12
cardiomyopathy, dilated, 1m
  • cmd1m
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
endocardial fibroelastosis
  • efe
- elite association - COSMIC cancer census association via MalaCards
Search CSRP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSRP3_HUMAN
  • Cardiomyopathy, dilated 1M (CMD1M) [MIM:607482]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:12507422, ECO:0000269 PubMed:18505755, ECO:0000269 PubMed:19412328}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124]: 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. {ECO:0000269 PubMed:12642359, ECO:0000269 PubMed:15205937, ECO:0000269 PubMed:18505755, ECO:0000269 PubMed:27353086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CSRP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSRP3: view

No data available for Genatlas for CSRP3 Gene

Publications for CSRP3 Gene

  1. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 19412328) Hershberger RE … Litt M (Clinical and translational science 2008) 3 4 23 43 56
  2. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PMID: 19293840) Møller DV … Køber L (European journal of human genetics : EJHG 2009) 3 23 43 56
  3. Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle. (PMID: 19752190) Papalouka V … Sanoudou D (Molecular and cellular biology 2009) 3 4 23 56
  4. Structure and dynamics of the human muscle LIM protein. (PMID: 19230835) Schallus T … Muhle-Goll C (FEBS letters 2009) 3 4 23 56
  5. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. (PMID: 18505755) Geier C … Ozcelik C (Human molecular genetics 2008) 3 4 23 56

ExternalLinks

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