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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSRP3 Gene

protein-coding   GIFtS: 61
GCID: GC11M019160

Cysteine And Glycine-Rich Protein 3 (Cardiac LIM Protein)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cysteine And Glycine-Rich Protein 3 (Cardiac LIM Protein)1 2     LMO42
CLP2 3 5     Cardiac LIM Domain Protein2
CRP32 3 5     Cysteine And Glycine-Rich Protein 32
Muscle LIM Protein2 3     LIM Domain Only 42
MLP2 3     Cardiac LIM Protein3
CMD1M2 5     Cysteine-Rich Protein 33
CMH122 5     LIM Domain Protein, Cardiac3

External Ids:    HGNC: 24721   Entrez Gene: 80482   Ensembl: ENSG000001291707   OMIM: 6008245   UniProtKB: P504613   

Export aliases for CSRP3 gene to outside databases

Previous GC identifers: GC11M020365 GC11M020147 GC11M019243 GC11M019168 GC11M018887


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (cardiac LIM protein)) is a protein-coding gene. Diseases associated with CSRP3 include cardiomyopathy, familial hypertrophic, 12, and csrp3-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include structural constituent of muscle and telethonin binding. An important paralog of this gene is CSRP2.

UniProtKB/Swiss-Prot: CSRP3_HUMAN, P50461
Function: Positive regulator of myogenesis. 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)

Gene Wiki entry for CSRP3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CSRP3 gene promoter:
         RORalpha1   NF-1   Sox9   Hlf   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSRP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CSRP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSRP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

CSRP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSRP3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M019160:  view genomic region     (about GC identifiers)

Start:
19,203,578 bp from pter      End:
19,232,120 bp from pter
Size:
28,543 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CSRP3_HUMAN, P50461 (See protein sequence)
Recommended Name: Cysteine and glycine-rich protein 3  
Size: 194 amino acids; 20969 Da
Subunit: Interacts with LDHD (By similarity). Interacts with GLRX3 (via C-terminus) (By similarity)
Subcellular location: Nucleus (Potential). Cytoplasm. Cytoplasm, cytoskeleton (Potential). Cytoplasm, myofibril,
sarcomere, Z line (By similarity). Note=Mainly cytoplasmic (By similarity). In the nucleus it associates with the
actin cytoskeleton (Potential). In the Z line, found associated with GLRX3 (By similarity)
2 PDB 3D structures from and Proteopedia for CSRP3:
2O10 (3D)        2O13 (3D)    
Secondary accessions: Q9P131

Explore the universe of human proteins at neXtProt for CSRP3: NX_P50461

Explore proteomics data for CSRP3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50461

  • CSRP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CSRP3 Protein Expression
    REFSEQ proteins: NP_003467.1  
    ENSEMBL proteins: 
     ENSP00000431813   ENSP00000265968  

    Human Recombinant Protein Products for CSRP3: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CSRP3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005856cytoskeleton IEA--
    GO:0030018Z disc IDA12507422

    CSRP3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry P50461

    ProtoNet protein and cluster: P50461

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: CSRP3_HUMAN, P50461
    Similarity: Contains 2 LIM zinc-binding domains


    CSRP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSRP3_HUMAN, P50461
    Function: Positive regulator of myogenesis. 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)

         Genatlas biochemistry entry for CSRP3:
    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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12127981
    GO:0008270zinc ion binding IEA--
    GO:0008307structural constituent of muscle IMP12507422
    GO:0031433telethonin binding IPI15582318
    GO:0042805actinin binding ISS12507422
         
    CSRP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CSRP3:
     Increased cilium length after  

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Csrp3):
     cardiovascular system  growth/size  homeostasis/metabolism  mortality/aging  muscle 
     respiratory system 

    CSRP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Csrp3tm1Crni for CSRP3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CSRP3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CSRP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSRP3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSRP3 

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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CSRP3
    SwitchGear 3'UTR luciferase reporter plasmidCSRP3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSRP3
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSRP3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CSRP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for CSRP3 (P504613 ENSP000002659684) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LDHDQ86WU23, ENSP000003000514I2D: score=2 STRING: ENSP00000300051
    MYOD1P151723, ENSP000002500034I2D: score=2 STRING: ENSP00000250003
    HDAC4P565243, ENSP000002646064I2D: score=1 STRING: ENSP00000264606
    NHLH1Q025753, ENSP000003021894I2D: score=1 STRING: ENSP00000302189
    SPTBP112773, ENSP000003743724I2D: score=1 STRING: ENSP00000374372
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction ISS--
    GO:0003300cardiac muscle hypertrophy IMP12507422
    GO:0006874cellular calcium ion homeostasis ISS--
    GO:0007519skeletal muscle tissue development TAS7954791
    GO:0033365protein localization to organelle IMP12507422

    CSRP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSRP3

    Search CenterWatch for drugs/clinical trials and news about CSRP3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CSRP3 gene: 
    NM_003476.4  

    Unigene Cluster for CSRP3:

    Cysteine and glycine-rich protein 3 (cardiac LIM protein)
    Hs.83577  [show with all ESTs]
    Unigene Representative Sequence: NM_003476
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533783 ENST00000265968(uc001mpk.2)

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CSRP3
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CSRP3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSRP3
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    OriGene clones in human, mouse for CSRP3 (see all 13)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CSRP3 (NM_001127656)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSRP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSRP3
    Sirion Biotech Customized lentivirus for stable overexpression of CSRP3 
                         Customized lentivirus expression plasmids for stable overexpression of CSRP3 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSRP3
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    Additional mRNA sequence: 

    AF121260.1 AK313289.1 BC005900.2 BC024010.1 BC057221.1 U20324.1 U49837.1 U72899.1 

    3 DOTS entries:

    DT.417558  DT.95161717  DT.120737913 

    24/131 AceView cDNA sequences (see all 131):

    F26127 AA247199 U20324 AI018334 BM091412 AU099575 BF222629 U72899 
    NM_003476 AI969927 AA328566 AI147018 AJ709361 AI184982 AA179103 AA347358 
    U49837 BV179213 BX503545 AJ346411 F17381 F37281 BG152874 W81425 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CSRP3 expression in normal human tissues (normalized intensities)      CSRP3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTCGGAGAT
    CSRP3 Expression
    About this image


    CSRP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 6 entries
             skeletal muscle ; myocytes   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiac Fibroblasts Myocardium
             heart muscle ; myocytes   
             heart/ventricle   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See CSRP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSRP3

    SOURCE GeneReport for Unigene cluster: Hs.83577

    UniProtKB/Swiss-Prot: CSRP3_HUMAN, P50461
    Tissue specificity: Cardiac and slow-twitch skeletal muscles

        SABiosciences Custom PCR Arrays for CSRP3
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CSRP3 gene from 9/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csrp31 , 5 cysteine and glycine-rich protein 31, 5 91.24(n)1
    97.94(a)1
      7 (31.11 cM)5
    130091  NM_001198841.11  NP_001185770.11 
     488303985 
    chicken
    (Gallus gallus)
    Aves CSRP31 cysteine and glycine-rich protein 3 (cardiac LIM protein) 79.27(n)
    89.12(a)
      422979  NM_001199486.1  NP_001186415.1 
    lizard
    (Anolis carolinensis)
    Reptilia CSRP36
    Uncharacterized protein
    89(a)
    1 ↔ 1
    1(56116552-56140945)
    African clawed frog
    (Xenopus laevis)
    Amphibia csrp3-A-prov2 muscle LIM protein 78.12(n)    AF272888.1 
    zebrafish
    (Danio rerio)
    Actinopterygii csrp31 cysteine and glycine-rich protein 3 (cardiac LIM protein) 68.86(n)
    75.82(a)
      450005  NM_001006026.1  NP_001006026.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mlp84B3
    Mlp60A1
    cell differentiation3
    Muscle LIM protein at 60A1
    46(a)3
    56.22(n)1
    53.61(a)1
      378531  NM_001144278.21  NP_001137750.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mlp-16
    Protein MLP-1, isoform b
    36(a)
    1 → many
    III(5971530-5973664)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G557701 GATA type zinc finger transcription factor-like protein 46.46(n)
    36.87(a)
      824743  NM_001035791.1  NP_001030868.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02661001 hypothetical protein 45.42(n)
    36.25(a)
      4332355  NM_001056190.1  NP_001049655.1 


    ENSEMBL Gene Tree for CSRP3 (if available)
    TreeFam Gene Tree for CSRP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CSRP3 gene
    CSRP22  CSRP12  CRIP22  CRIP32  ENSG000002573412  CRIP12  
    5 SIMAP similar genes for CSRP3 using alignment to 2 protein entries:     CSRP3_HUMAN (see all proteins):
    DKFZp686M148    CSRP1    CSRP2    CRIP2    CRIP3

    CSRP3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/752 SNPs in CSRP3 are shown (see all 752)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0459324
    Cardiomyopathy, familial hypertrophic 12 (CMH12)4--see VAR_0459322 L P mis40--------
    VAR_0459344
    Cardiomyopathy, familial hypertrophic 12 (CMH12)4--see VAR_0459342 C G mis40--------
    rs455506351,2,4
    C,FCardiomyopathy, dilated 1M (CMD1M)4 pathogenic119138585(-) CAAACT/CGGGGC 2 /R /W mis16Minor allele frequency- C:0.00NS NA EU 6361
    rs1378527641,2
    Cpathogenic119134357(-) CCCCAA/GAGGGA 2 K R mis10--------
    rs1048942041,2
    Cpathogenic119134391(-) TCTACG/TGCAAG 2 G C mis10--------
    rs1378527651,2
    Cpathogenic119134427(-) TTGACA/CGCACG 2 S R mis10--------
    rs1048942051,2
    Cpathogenic119134432(-) GGCTCC/TTGACA 2 P L mis10--------
    rs347888421,2
    C--18915763(+) AGCCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1150282591,2
    F--19127691(+) GAGGAG/AGAGGA 1 -- ds50011Minor allele frequency- A:0.04WA 118
    rs19912491,2
    C,F,A,H--19127764(-) CACTAC/TGCATG 1 -- ds500142Minor allele frequency- T:0.40EA NA MN NS WA CSA 3734

    HapMap Linkage Disequilibrium report for CSRP3 (19203578 - 19232120 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CSRP3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744177CNV Deletion23290073


    Human Gene Mutation Database (HGMD): CSRP3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CSRP3
    DNA2.0 Custom Variant and Variant Library Synthesis for CSRP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600824   
    OMIM disorders: 607482  612124  
    UniProtKB/Swiss-Prot: CSRP3_HUMAN, P50461
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 15 diseases for CSRP3:    About MalaCards
    cardiomyopathy, familial hypertrophic, 12    csrp3-related familial hypertrophic cardiomyopathy    csrp3-related dilated cardiomyopathy    endocardial fibroelastosis
    dilated cardiomyopathy    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy    syncope
    congestive heart failure    myocardial infarction    parkinson's disease    cerebritis
    lung cancer    breast cancer    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CSRP3:
    Dilated cardiomyopathy     Hypertrophic cardiomyopathy

    CSRP3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for CSRP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dilated cardiomyopathy 70.7 6 9484605 (1), 11192363 (1), 14567970 (1), 15639480 (1) (see all 6)
    cardiomyopathy 47.6 4 17923363 (1), 20044516 (1)
    cardiac hypertrophy 47 1 19804115 (1)
    heart failure 46.2 3 15639480 (1), 15665106 (1), 19649232 (1)
    hypertrophy 1.42 1 12642365 (1)
    breast cancer 0 3 12906853 (2), 16331278 (1)
    cancer 0 2 19997957 (1), 12906853 (1)

    GeneTests: CSRP3
    GeneReviews: CSRP3
    Genetic Association Database (GAD): CSRP3
    Human Genome Epidemiology (HuGE) Navigator: CSRP3 (10 documents)

    Export disorders for CSRP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CSRP3 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with CSRP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization. (PubMed id 7490106)1, 2, 3 Fung Y.W.... Liew C.C. (1995)
    2. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. (PubMed id 12642359)1, 2, 9 Geier C....Osterziel K.J. (2003)
    3. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. (PubMed id 12507422)1, 2, 9 Knoell R.... Chien K.R. (2002)
    4. Structure and dynamics of the human muscle LIM protein. (PubMed id 19230835)1, 2, 9 Schallus T.... Muhle-Goll C. (2009)
    5. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. (PubMed id 18505755)1, 2, 9 Geier C....Ozcelik C. (2008)
    6. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (2009)
    7. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 19412328)1, 4, 9 Hershberger R.E....Litt M. (2008)
    8. A novel custom resequencing array for dilated cardiom yopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (2010)
    9. Common susceptibility variants examined for associati on with dilated cardiomyopathy. (PubMed id 20201937)1, 4 Rampersaud E....Martin E.R. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8048 HGNC: 2472 AceView: CSRP3 Ensembl:ENSG00000129170 euGenes: HUgn8048
    ECgene: CSRP3 H-InvDB: CSRP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CSRP3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CSRP3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CSRP3 gene:
    Search GeneIP for patents involving CSRP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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