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

LDB3 Gene

protein-coding   GIFtS: 59
GCID: GC10P088426

LIM domain binding 3
 Explore 11 diseases affiliated with
LDB3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LDB3    

Aliases
for LDB3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
LIM Domain Binding 31 2     LVNC32 5
ZASP1 2 3 5     LDB3Z12
PDLIM61 2     LDB3Z42
KIAA06131 3     ORACLE2
Protein Cypher2 3     LIM Domain-Binding Protein 32
Z-Band Alternatively Spliced PDZ-Motif Protein2 3     PDZ And LIM Domain 62
CMD1C2 5     KIAA016135
CYPHER2 5     

External Ids:    HGNC: 157101   Entrez Gene: 111552   Ensembl: ENSG000001223677   OMIM: 6059065   UniProtKB: O751123   

Export aliases for LDB3 gene to outside databases

Previous GC identifers: GC10P087309 GC10P087650 GC10P088559 GC10P088092 GC10P088418 GC10P082282


Summaries
for LDB3 gene

(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 LDB3:
This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains
consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal
assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this
gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM
domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules.
This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated
with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different
isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have
C-terminal LIM domains. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
Function: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM
domains to the cytoskeleton

Gene Wiki entry for LDB3


Genomic Views
for LDB3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LDB3 gene promoter:
         RFX1   AP-2gamma   Pax-4a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LDB3 promoter sequence
   Search SABiosciences Chromatin IP Primers for LDB3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LDB3


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

Entrez Gene cytogenetic band: 10q22.3-q23.2   Ensembl cytogenetic band:  10q23.2   HGNC cytogenetic band: 10q22.3-q23.2

LDB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LDB3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P088426:  view genomic region     (about GC identifiers)

Start:
 88,426,549 bp from pter      End:
 88,495,825 bp from pter
Size:
 69,277 bases      Orientation:
 plus strand

Proteins
for LDB3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112 (See protein sequence)
Recommended Name: LIM domain-binding protein 3  
Size: 727 amino acids; 77135 Da
Subunit: Interacts via its LIM domains with various PKC isoforms (By similarity). Interacts via its PDZ domain with the
ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3
Subcellular location: Cytoplasm, perinuclear region. Cell projection, pseudopodium. Cytoplasm, cytoskeleton. Cytoplasm,
myofibril, sarcomere, Z line. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells
and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines
Sequence caution: Sequence=BAA31588.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for LDB3:
1RGW (3D)    
Secondary accessions: A2TDB7 A6NIV4 B4E3K3 Q5K6N9 Q5K6P0 Q5K6P1 Q96FH2 Q9Y4Z3 Q9Y4Z4 Q9Y4Z5
Alternative splicing: 7 isoforms:  O75112-1   O75112-2   O75112-3   O75112-4   O75112-5   O75112-6   O75112-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LDB3: NX_O75112

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75112

    • LDB3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_001073583.1  NP_001073584.1  NP_001073585.1  NP_001165081.1  NP_001165082.1  NP_009009.1  

    ENSEMBL proteins: 
     ENSP00000361136   ENSP00000355296   ENSP00000437080   ENSP00000433244   ENSP00000438077  
     ENSP00000401437   ENSP00000409148   ENSP00000263067   ENSP00000263066   ENSP00000361126  
     ENSP00000311913   ENSP00000438866  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: LDB3
    OriGene Protein Over-expression Lysate (see all 2): LDB3
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    Novus Biologicals LDB3 Protein
    Novus Biologicals LDB3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for LDB3

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IDA10427098
    GO:0030018Z disc IEA--
    GO:0031143pseudopodium IEA--
    GO:0048471perinuclear region of cytoplasm IEA--


    LDB3 for ontologies           About GeneDecksing



    LDB3 Antibody Products: 
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    Uscn ELISAs and CLIAs for LDB3

    Protein Domains /
    Families
    for LDB3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    LDB3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006643 ZASP
     IPR001478 PDZ
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry O75112

    ProtoNet protein and cluster: O75112

    2 Blocks protein families:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001781 Zn-binding protein


    UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
    Similarity: Contains 3 LIM zinc-binding domains
    Similarity: Contains 1 PDZ (DHR) domain


    Function
    for LDB3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
    Function: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM
    domains to the cytoskeleton

    miRNA
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    hsa-miR-579 hsa-miR-607 hsa-let-7d hsa-let-7a-2* hsa-miR-342-3p hsa-miR-10b* hsa-let-7g hsa-let-7a
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    OriGene shRNA RFP: LDB3
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for LDB3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDB3

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005080protein kinase C binding IEA--
    GO:0005515protein binding IPI10427098
    GO:0008092cytoskeletal protein binding IPI17987659
    GO:0008270zinc ion binding IEA--


    LDB3 for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ldb3):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  respiratory system 

    LDB3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for LDB3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LDB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/18 Interacting proteins for LDB3 (O751123 ENSP000003552964) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2P356093, ENSP000003555374I2D: score=4 STRING: ENSP00000355537
    MYOZ3Q8TDC03, ENSP000002971304I2D: score=4 STRING: ENSP00000297130
    PRKCGP051293, ENSP000002634314I2D: score=2 STRING: ENSP00000263431
    ACTN1P128143, ENSP000003779414I2D: score=1 STRING: ENSP00000377941
    MYOZ1Q9NP983, ENSP000003522724I2D: score=3 STRING: ENSP00000352272
    About this table

    Drugs & Compounds
    for LDB3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 LDB3
    Search CenterWatch for drugs/clinical trials and news about LDB3 

    Transcripts
    for LDB3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for LDB3 gene (6 alternative transcripts): 
    NM_001080114.1  NM_001080115.1  NM_001080116.1  NM_001171610.1  NM_001171611.1  NM_007078.2  

    Unigene Cluster for LDB3:

    LIM domain binding 3
    Hs.657271  [show with all ESTs]
    Unigene Representative Sequence: NM_001171610
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372066(uc001kdr.3) ENST00000361373 ENST00000472076 ENST00000489700
    ENST00000480727 ENST00000477489(uc009xta.2) ENST00000539402(uc010qml.1)
    ENST00000429277(uc010qmm.2 uc001kdv.3) ENST00000458213(uc009xsz.3 uc001kdu.3)
    ENST00000352360 ENST00000263066 ENST00000372056(uc001kdt.3 uc009xsy.3)
    ENST00000310944(uc001kds.3) ENST00000542786

    miRNA
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    8/48 QIAGEN miScript miRNA Assays for microRNAs that regulate LDB3 (see all 48):
    hsa-miR-579 hsa-miR-607 hsa-let-7d hsa-let-7a-2* hsa-miR-342-3p hsa-miR-10b* hsa-let-7g hsa-let-7a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LDB3 (see all 7)
    OriGene shRNA RFP: LDB3
    OriGene siRNA: LDB3
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LDB3

    Additional cDNA sequence: 

    AB014513.1 AF086263.1 AF276807.1 AF276809.1 AJ133766.1 AJ133767.1 AJ133768.1 AK294696.1 
    AK297871.1 AK300692.1 AK304760.1 AL359621.1 BC010929.2 

    22 DOTS entries:

    DT.121286610  DT.121286688  DT.100747087  DT.95269114  DT.115157  DT.121286569  DT.413708  DT.100018449 
    DT.121286559  DT.121286522  DT.115158  DT.121286621  DT.100674644  DT.100747088  DT.121286595  DT.121286611 
    DT.121286672  DT.91865560  DT.95265953  DT.100722552  DT.102835935  DT.91789178 

    24/143 AceView cDNA sequences (see all 143):

    F26953 C05437 AI336399 F33131 F27063 BX499990 BC023609 AI383171 
    AI627698 BQ717630 F17679 AF086263 F20509 AJ572188 AA884579 AI688502 
    F31093 AA425362 BX500170 F36311 AL044762 BX094078 F36193 W67975 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for LDB3 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^
    SP1:                                                                                                                                                            
    SP2:                                                                    -     -                                                                                 
    SP3:                                                  -     -     -     -                                                                                       
    SP4:              -     -                                         -     -     -                                                                                 
    SP5:              -     -     -     -     -                       -     -     -                                                                                 

    ExUns: 16
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for LDB3

    Expression
    for LDB3 gene

    (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

    LDB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTTTTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    LDB3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)

    See LDB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LDB3

    SOURCE GeneReport for Unigene cluster: Hs.657271

    UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
    Tissue specificity: Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and
    placenta

        SABiosciences Custom PCR Arrays for LDB3
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    In Situ
    Assay Products:     
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    Orthologs
    for LDB3 gene

    (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 animals.

    Orthologs for LDB3 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LDB36
    		 Uncharacterized protein
    		 69(a)
    		 1 ↔ 1
    		 6(3414439-3495739)
    lizard
    (Anolis carolinensis)    		 Reptilia LDB36
    		 --
    		 63(a)
    		 1 ↔ 1
    		 GL343199.1(4430792-4491394)
    African clawed frog
    (Xenopus laevis)    		 Amphibia ldb3-prov2 LIM domain binding 3 77.96(n)    BC042340.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC045908.12   -- 78.5(n)    BC045908.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Zasp526
    		 Z band alternatively spliced PDZ-motif protein 52
    		 8(a)
    		 1 → many
    		 2R(11650070-11704509)
    worm
    (Caenorhabditis elegans)    		 Secernentea alp-16
    		 ALP/Enigma encoding family member (alp-1)
    		 10(a)
    		 1 → many
    		 IV(8852485-8862474)


    ENSEMBL Gene Tree for LDB3 (if available)
    TreeFam Gene Tree for LDB3 (if available) 

    Paralogs
    for LDB3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LDB3 gene
    ABLIM32  LIMS12  LIMS3L2  FHL52  LPXN2  ABLIM22  PDLIM52  ENSG000002572072  
    LIMS22  FHL22  ABLIM12  PDLIM72  EPB492  FHL32  FHL12  TGFB1I12  
    LIMS32  PXN2  
    18/20 SIMAP similar genes for LDB3 using alignment to 4 protein entries:     LDB3_HUMAN (see all proteins) (see all similar genes):
    PDLIM3    PDLIM5    SYNPO2    PDLIM2    PDLIM7    LHx4
    LHX2    LPXN    ZYX    LIMS1    LMO3    ABLIM3
    ISL2    LHX6    LIM    FHL3    LMO1    AJUBA

    LDB3 for paralogs           About GeneDecksing



    Genomic Variants
    for LDB3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1418 NCBI SNPs in LDB3 are shown (see all 1418)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs455552401,2
    		C,F,non-pathogenic82320681(+) GCCTCC/AGCCTC 4 /S syn1 int17Minor allele frequency- A:0.06NS CSA WA NA 4848
    rs454594911,2
    		C,F,non-pathogenic82320714(+) CCTGCC/TGACAG 4 A syn1 int17Minor allele frequency- T:0.03NS NA EU 4345
    rs454876991,2
    		C,pathogenic82295689(+) GGGCTC/TGAGCC 10 S L int1 mis17Minor allele frequency- T:0.00NS NA EU 5097
    rs1219083381,2
    		C,F,pathogenic82301084(+) GCGCCG/AACTAC 10 /N /D mis1 int11Minor allele frequency- A:0.01EU 713
    rs1219083361,2
    		C,Fpathogenic82320675(+) GCCATC/G/TGCCTC 5 I M int1 mis1 syn11NA 4360
    rs455140021,2
    		C,pathogenic82340176(+) GCTGCG/AATTTC 6 /N /D mis16Minor allele frequency- A:0.01NS NA EA 564
    rs455921391,2
    		C,F,probable-non-pathogenic82294147(+) TCTGCC/TGGTGA 12 P L mis18Minor allele frequency- T:0.01NS NA WA EU 6457
    rs455295311,2
    		C,F,probable-non-pathogenic82305914(+) GCATTA/GCAGGA 6 -- int16Minor allele frequency- G:0.01NS WA EU 1931
    rs344231651,2
    		C,F,probable-non-pathogenic82305980(-) GGCTCT/CTAATC 12 /K /R mis17Minor allele frequency- C:0.01NA NS EU 6439
    rs1426259821,2
    		C,F,probable-non-pathogenic82330521(+) CCCTCG/AGTGGC 6 /S syn12Minor allele frequency- A:0.00NA EU 5593

    HapMap Linkage Disequilibrium report for LDB3 (88426549 - 88495825 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for LDB3
         8 CNVs: 48661 48658 29869 48657 29868 48656 53351 48662
         2 Indels: 48659 48660
    Human Gene Mutation Database (HGMD): LDB3

    Locus Specific Mutation Databases (LSDB): LDB3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LDB3
    DNA2.0 Custom Variant and Variant Library Synthesis for LDB3

    Disorders / Diseases
    for LDB3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    LDB3 for disorders           About GeneDecksing

    OMIM gene information: 605906   
    OMIM disorders: 609452  601493  
    UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
  • Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. Dilated cardiomyopathy
    • is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart
    failure and arrhythmia. Patients are at risk of premature death
  • Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493]. Left ventricular
    • non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in
    hypertrophied and hypokinetic segments of the left ventricle
  • Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452]. A neuromuscular disorder
    • characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy

    11 diseases for LDB3:    About MalaCards
    myopathy, myofibrillar, zasp-related    dilated cardiomyopathy    left ventricular noncompaction 3, with or without dilated cardiomyopathy    myofibrillar myopathy
    left ventricular noncompaction    myopathy    cardiomyopathy    muscular dystrophy
    barth syndrome    myotonic dystrophy    alzheimer's disease

    4 diseases from the University of Copenhagen DISEASES database for LDB3:
    Myocardial infarction     Coronary aneurysm     Coronary heart disease     Barth syndrome

    1 Novoseek disease relationship for LDB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathy 75.1 4 19047374 (1), 17337483 (1), 19181098 (1), 19050726 (1)

    GeneTests: LDB3
    Dilated Cardiomyopathy
    Myofibrillar Myopathy

    Human Genome Epidemiology (HuGE) Navigator: LDB3 (6 documents)

    Export disorders for LDB3 gene to outside databases

    Publications
    for LDB3 gene

    (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 LDB3 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with LDB3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098)1, 2, 3 Faulkner G.... Lanfranchi G. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. (PubMed id 14660611)1, 2 Arimura T.... Kimura A. (2004)
    4. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2 Frey N. and Olson E.N. (2002)
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    6. Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations. (PubMed id 16476425)1, 9 Klaavuniemi T. and Ylanne J. (2006)
    7. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. (PubMed id 17394203)1, 9 Marziliano N....Arbustini E. (2007)
    8. Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. (PubMed id 10391924)1, 9 Zhou Q....Chen J. (1999)
    9. Loss of function of hNav1.5 by a ZASP1 mutation associ ated with intraventricular conduction disturbances in left ventricular noncompac tion. (PubMed id 22929165)1 Xi Y....Vatta M. (2012)
    10. Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people. (PubMed id 22349865)1 Cai H....Sasaki H. (2012)

    External Searches for LDB3 gene

    (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)

    Genome Databases showing LDB3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11155 HGNC: 15710 AceView: LDB3 Ensembl:ENSG00000122367 euGenes: HUgn11155
    ECgene: LDB3 H-InvDB: LDB3

    Other Databases showing LDB3 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0613 KIAA01613

    Specialized Databases showing LDB3 gene

    (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 LDB3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDB3

    Intellectual Property
    for LDB3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for LDB3 gene:
    Search GeneIP for patents involving LDB3

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



    Products
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    About This Section

     
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