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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

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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
LIM Domain Binding 31 2     LDB3Z12
ZASP2 3 5     LDB3Z42
Protein Cypher2 3     MFM42
Z-Band Alternatively Spliced PDZ-Motif Protein2 3     ORACLE2
CMD1C2 5     PDLIM62
CYPHER2 5     LIM Domain-Binding Protein 32
LVNC32 5     PDZ And LIM Domain 62
cypher1     KIAA06133
oracle1     KIAA016135

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


(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 Gene:
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)

GeneCards Summary for LDB3 Gene: 
LDB3 (LIM domain binding 3) is a protein-coding gene. Diseases associated with LDB3 include zaspopathy, and left ventricular noncompaction 3, with or without dilated cardiomyopathy. GO annotations related to this gene include cytoskeletal protein binding and protein kinase C binding. An important paralog of this gene is ABLIM3.

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 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_000010.10  NT_030059.13  NC_018921.2  
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 plasmidLDB3 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:
88,428,206 bp from pter      End:
88,495,825 bp from pter
Size:
67,620 bases      Orientation:
plus 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: 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

Explore proteomics data for LDB3 at MOPED 

Post-translational modifications:

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

  • LDB3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LDB3 Protein Expression
    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   ENSP00000401437   ENSP00000409148   ENSP00000263067  
     ENSP00000263066   ENSP00000361126   ENSP00000311913   ENSP00000438866  

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    Novus Biologicals LDB3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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 IDA10427098
    GO:0031143pseudopodium IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    LDB3 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
    3 InterPro protein domains:
     IPR006643 ZASP
     IPR001478 PDZ
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry O75112

    ProtoNet protein and cluster: O75112

    2 Blocks protein domains:
    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


    LDB3 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: 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 Ontology (GO): 5 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--
    GO:0051371muscle alpha-actinin binding IEA--
         
    LDB3 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LDB3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LDB3 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDB3


    (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:

        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

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045214sarcomere organization IEA--

    LDB3 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 LDB3

    Search CenterWatch for drugs/clinical trials and news about LDB3

    (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 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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372066(uc001kdr.3) ENST00000361373 ENST00000477489(uc009xta.2)
    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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    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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    Additional mRNA 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):

    AI336399 BX499990 F33131 F27063 F36193 W67975 AI688502 AI566346 
    AA884579 F26953 C05437 AA425362 F31093 F36311 AL044762 BX094078 
    BX500170 AA425568 AB014513 NM_007078 AJ572188 AF086263 AI383171 BC023609 

    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

    (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)      LDB3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTTTTT
    LDB3 Expression
    About this image


    LDB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             deltoid muscle   
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Heart Tube
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             heart/ventricle   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
             limb/forelimb   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ/bladder/detrusor muscle of bladder   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDB3

    (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 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ldb35 LIM domain binding 3   --   14 (20.83 cM) 34526699 
    chicken
    (Gallus gallus)
    Aves LDB36
    LIM domain binding 3
    60(a)
    1 ↔ 1
    6(1874620-1984490)
    lizard
    (Anolis carolinensis)
    Reptilia LDB36
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343199.1(4430792-4644175)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1156
    Protein UNC-115, isoform a
    8(a)
    1 → many
    X(10146892-10152785)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LDB3 gene
    ABLIM32  LIMS12  LIMS3L2  DMTN2  FHL52  LPXN2  PDLIM52  ABLIM22  
    ENSG000002572072  LIMS22  FHL22  ABLIM12  PDLIM72  FHL32  FHL12  LIMS32  
    TGFB1I12  PXN2  
    6 SIMAP similar genes for LDB3 using alignment to 1 protein entry:     LDB3_HUMAN:
    LHx4    LIMS2    LIM    LMO3    FHL3    LMO1

    LDB3 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

    10/1737 SNPs in LDB3 are shown (see all 1737)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0240104
    Cardiomyopathy, dilated 1C (CMD1C)4--see VAR_0240102 T I mis40--------
    VAR_0240114
    Cardiomyopathy, dilated 1C (CMD1C)4--see VAR_0240112 I M mis40--------
    rs454876991,2,4
    CCardiomyopathy, dilated 1C (CMD1C)4 pathogenic188813291(+) GGGCTC/TGAGCC 10 S L int1 mis17Minor allele frequency- T:0.00NS NA EU 5097
    rs455140021,2,4
    CCardiomyopathy, dilated 1C (CMD1C)4 pathogenic188857773(+) GCTGCG/AATTTC 6 /N /D mis16Minor allele frequency- A:0.01NS NA EA 564
    rs455552401,2
    C,Fnon-pathogenic188838272(+) GCCTCC/AGCCTC 4 /S int1 syn17Minor allele frequency- A:0.06NS CSA WA NA 4848
    rs454594911,2
    C,Fnon-pathogenic188838305(+) CCTGCC/TGACAG 4 A int1 syn17Minor allele frequency- T:0.03NS NA EU 4345
    rs1219083381,2
    C,Fpathogenic188818684(+) GCGCCG/AACTAC 10 /N /D mis1 int11Minor allele frequency- A:0.01EU 713
    rs1219083351,2
    Cpathogenic188830921(+) AATTGC/TGCAAC 9 R C int1 mis10--------
    rs1219083361,2
    C,Fpathogenic188838266(+) GCCATC/G/TGCCTC 4 I M int1 mis11NA 4360
    rs455921391,2,4
    C,Fprobable-non-pathogenic188811749(+) TCTGCC/TGGTGA 12 P L mis18Minor allele frequency- T:0.01NS NA WA EU 6457

    HapMap Linkage Disequilibrium report for LDB3 (88428206 - 88495825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for LDB3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv470968CNV Loss18288195
    nsv519805CNV Loss19592680
    nsv895836CNV Loss21882294
    dgv116n27CNV Loss19166990
    nsv895857CNV Loss21882294
    nsv467411CNV Loss19166990
    nsv524269CNV Loss19592680
    nsv520811CNV Loss19592680
    dgv793n71CNV Gain21882294
    nsv517139CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): LDB3

    Locus Specific Mutation Databases (LSDB): LDB3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LDB3
    DNA2.0 Custom Variant and Variant Library Synthesis for LDB3

    (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: 605906   
    OMIM disorders: 609452  601493  
    UniProtKB/Swiss-Prot: LDB3_HUMAN, O75112
  • Cardiomyopathy, dilated 1C (CMD1C) [MIM:601493]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some
    patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep
    intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Left ventricular non-compaction 3 (LVNC3) [MIM:601493]: A disease due to an arrest of myocardial
    morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor
    systolic function, with or without associated left ventricular dilation. In some cases, it is associated with
    other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Myopathy, myofibrillar, 4 (MFM4) [MIM:609452]: A neuromuscular disorder characterized by distal and
    proximal muscle weakness with signs of cardiomyopathy and neuropathy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/21 diseases for LDB3 (see all 21):    About MalaCards
    zaspopathy    left ventricular noncompaction 3, with or without dilated cardiomyopathy    coronary aneurysm    myopathy, myofibrillar, zasp-related
    ldb3-related dilated cardiomyopathy    arrhythmogenic right ventricular dysplasia, familial, 5    myofibrillar myopathy    left ventricular noncompaction
    dilated cardiomyopathy    barth syndrome    myopathy    inclusion body myositis
    myotonic dystrophy    congestive heart failure    myositis    hypertrophic cardiomyopathy
    muscular dystrophy    coronary heart disease    myocardial infarction    neuropathy

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

    LDB3 for disorders           About GeneDecksing


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

    1 Novoseek inferred 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
    GeneReviews: LDB3
    Genetic Association Database (GAD): LDB3
    Human Genome Epidemiology (HuGE) Navigator: LDB3 (6 documents)

    Export disorders for LDB3 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 LDB3 gene, integrated from 9 sources (see all 43):
    (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. A novel custom resequencing array for dilated cardiom yopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (2010)
    3. Common susceptibility variants examined for associati on with dilated cardiomyopathy. (PubMed id 20201937)1, 4 Rampersaud E....Martin E.R. (2010)
    4. Candidate-gene testing for orphan limb-girdle muscula r dystrophies. (PubMed id 19472918)1, 4 Aurino S....Nigro V. (2008)
    5. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy. (PubMed id 18513529)1, 4 Bos J.M....Ackerman M.J. (2008)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. 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)
    10. 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)

    (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: 11155 HGNC: 15710 AceView: LDB3 Ensembl:ENSG00000122367 euGenes: HUgn11155
    ECgene: LDB3 H-InvDB: LDB3

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

    (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

    (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



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