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LDB3 Gene

protein-coding   GIFtS: 60

GC10P088418
LIM domain binding 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for LDB3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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  User Feedback
Aliases & Descriptions
LIM domain binding 31 2     KIAA016132 5
ZASP1 2 3 5     FLJ358652
KIAA06131 2 3     ORACLE2
PDLIM61 2     LDB3Z42
Protein cypher2 3     PDZ and LIM domain 62
Z-band alternatively spliced PDZ-motif protein2 3     LDB3Z12
CYPHER2 5     LIM domain-binding protein 32

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

Search outside databases for aliases for LDB3 gene

Previous GC identifers: GC10P087309 GC10P087650 GC10P088559 GC10P088092

Summaries
for LDB3 gene

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

  User Feedback		 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)

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 and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the LDB3 gene upstream (promoter) region "":
Bach1   SRF   CUTL1   Bach2   STAT5B   E47   STAT1   STAT1beta   STAT1alpha   STAT5A   

Epigenetics:
"" Search SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for 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)
""

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P088418:  view genomic region     (about GC identifiers)

Start:
 88,428,321 bp from pter
End:
 88,495,825 bp from pter
Size:
 67,505 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  

Proteins
for LDB3 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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  User Feedback		 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-disk. 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;
PDB structures from "" and Proteopedia "" :
1RGW (3D) ""    
Secondary accessions: A2TDB7 A6NIV4 Q5K6N9 Q5K6P0 Q5K6P1 Q96FH2 Q9Y4Z3 Q9Y4Z4 Q9Y4Z5
Alternative splicing: 6 isoforms:  O75112-1   O75112-2   O75112-3   O75112-4   O75112-5   O75112-6   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • 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: 
    ENSP00000361126 ENSP00000311913 ENSP00000263067 ENSP00000263066 ENSP00000409148 ENSP00000401437 
    ENSP00000361136 ENSP00000355296 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for LDB3 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for LDB3  ""
    Novus Biologicals Lysate for LDB3
    ""Browse Sino Biological Recombinant Proteins  ""

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005856 cytoskeleton IDA10427098
    GO:0030018 Z disc IEA--
    GO:0031143 pseudopodium IEA--
    GO:0048471 perinuclear region of cytoplasm IEA--
    About this table

    "" LDB3 for ontologies           About GeneDecksing



    Antibodies for LDB3: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for LDB3
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (LDB3)
    "" Origene Antibodies: LDB3 ""
    ""Novus Biologicals Antibodies for LDB3
    ""Browse antibodies at Epitomics

    Assays for LDB3: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for LDB3 gene

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

      User Feedback
    "" LDB3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006643 ZASP
     IPR001478 PDZ/DHR/GLGF
     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

    Gene Function
    for LDB3 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (LDB3)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 7): LDB3
    Origene shRNA RFP (see all 7): LDB3
    Origene basic RS shRNA (see all 7): LDB3

    ""Applied Biosystems Silencer® siRNAs for LDB3
    ""Sigma-Aldrich siRNA for LDB3
    Sigma-Aldrich shRNA for LDB3
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): LDB3
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): LDB3
    Origene untagged cDNA clones in CMV expression vector (see all 4): LDB3
    ""Browse Sino Biological Human cDNA Clones  ""

    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005080 protein kinase C binding ----
    GO:0005515 protein binding IPI10427098
    GO:0008270 zinc ion binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    "" LDB3 for ontologies           About GeneDecksing

    Animal Models: 10 MGI mutant phenotypes (inferred from 4 alleles"") (MGI details for Ldb3):

    behavior/neurologicalcardiovascular systemdigestive/alimentarygrowth/sizehomeostasis/metabolism
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingmusclerespiratory system

    "" LDB3 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for LDB3 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

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

    1 Interacting protein for LDB3 (ENSP000003552963) via UniProtKB, MINT, and/or STRING ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2ENSP000003555373STRING: ENSP00000355537
    About this table

    Drugs & Compounds
    for LDB3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" LDB3 for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for LDB3
    1 ""Novoseek chemical compound relationship for LDB3 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 0.64 1 18691923 (1)
    About this table


    Transcripts
    for LDB3 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (LDB3)
    ""Applied Biosystems Silencer® siRNAs:  NM_001080114  NM_001080115  NM_001080116  NM_001171610  NM_001171611  NM_007078  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 7): LDB3
    Origene shRNA RFP (see all 7): LDB3
    Origene basic RS shRNA (see all 7): LDB3

    ""Sigma-Aldrich siRNA for LDB3
    Sigma-Aldrich shRNA for LDB3
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate LDB3: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001080114  NM_001080115  NM_001080116  NM_001171610  NM_001171611  NM_007078  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): LDB3
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): LDB3
    Origene untagged cDNA clones in CMV expression vector (see all 4): LDB3
    Primers:"" Origene genome-wide validated SYBR primer pairs: LDB3
    ""SABiosciences RT2 qPCR Primer Assay for LDB3: PPH09397A ""

    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  

    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.91865560  DT.100674644  DT.100747088  DT.121286595 
    DT.121286611  DT.121286672  DT.95265953  DT.100722552  DT.102835935  DT.91789178 

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

    F36193 F27063 F33131 BX499990 AI336399 AF086263 F17679 W67975 
    AI688502 C05437 F26953 AA884579 F20509 AI627698 BQ717630 BC023609 
    AI383171 AA425362 F31093 F36311 AL044762 BX094078 BX500170 AA425568 

    "" highest scoring ESTs for LDB3:

    AB014513 AA085675 AA091640 AA111937 AA180065 AA182866 AA193136 AA196742 AA248047 AA564615 

    Unigene Cluster for LDB3:

    LIM domain binding 3
    Hs.657271  [show with all ESTs]
    Unigene Representative Sequence: NM_001171610


    GeneLoc Exon Structure

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

    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:      

    About this scheme

    ECgene alternative splicing isoforms for LDB3

    12 Ensembl transcripts including schematic representations:
    ENST00000372056  ENST00000310944  ENST00000352360  ENST00000263066  ENST00000458213  ENST00000429277  
    ENST00000480727  ENST00000477489  ENST00000489700  ENST00000472076  ENST00000372066  ENST00000361373  

    Expression
    for LDB3 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    LDB3 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for LDB3

    1""  / 2""  / 3""

    10 probe-sets matching LDB3 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34870_at2, 3 U95-A 1 1.00 1.00 0.98 0.81 AB014513 1.00 1.00 1.00 1
    79507_r_at2, 3 U95-E 1 1.00 1.00 0.96 1.13 AA180065 0.80 1.00 0.91 1
    34869_at2, 3 U95-A 1 1.00 1.00 0.99 0.83 AJ133766 0.80 1.00 0.91 1
    64516_at2, 3 U95-C 1 0.38 1.00 0.93 1.29 AI971301 0.60 1.00 0.82 1
    213371_at2, 3 U133-A 1 1.00 1.00 -- -- AI803302 0.60 1.00 0.82 1
    216887_s_at2, 3 U133-A 1 1.00 1.00 -- -- AJ133768 0.60 1.00 0.82 1
    213717_at2, 3 U133-A 1 1.00 1.00 -- -- AA211481 0.60 1.00 0.82 1
    213371_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    216887_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    213717_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    "" LDB3 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGTTTTTTTT

    SOURCE GeneReport for Unigene cluster: Hs.657271

    Expression variation in blood from EXPOLDB for LDB3

    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

    Primers:"" Origene genome-wide validated SYBR primer pairs: LDB3 ""
    ""SABiosciences RT2 qPCR Primer Assay for LDB3: PPH09397A ""

    Orthologs
    for LDB3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for LDB3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    rat
    (Rattus norvegicus)    		 Ldb31   -- LIM domain binding 3 81.92(n)
    85.23(a)    		 498587  XM_573863.2  XP_573863.2 
    mouse
    (Mus musculus)    		 Ldb31, 5 145
    		 LIM domain binding 31, 5 82.65(n)1
    85.09(a)1    		 241311  NM_001039074.21  NP_001034163.11 
     AF1143785  AF1143795  (see all 32)
    zebrafish
    (Danio rerio)    		 BC045908.12   --   -- 78.5(n)  BC045908.1 
    African clawed frog
    (Xenopus laevis)    		 ldb3-prov2   -- LIM domain binding 3 77.96(n)  BC042340.1 
    tropical clawed frog
    (Silurana tropicalis)    		 MGC756682   -- hypothetical protein MGC75668 78.79(n)  BC062490.1 
    About this table        Species with no ortholog for LDB3

    ENSEMBL Gene Tree for LDB3

    Paralogs
    for LDB3 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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    Paralogs for LDB3 gene
    TRIP62  FBLIM12  ABLIM32  LOC1002886952  LIMS12  WTIP2  FHL52  LIMS3-LOC4408952  
    LPXN2  PDLIM52  ABLIM22  FHL22  LIMS22  ABLIM12  LPP2  PDLIM72  
    EPB492  FHL32  ZYX2  FHL12  TGFB1I12  JUB2  LIMD12  

    "" LDB3 for paralogs           About GeneDecksing


    Genomic Variants
    for LDB3 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/665 NCBI SNPs in LDB3 are shown (see all 665 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 233)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs28035581,2
    		C,F,A,H82282578(+) AAGGCC/TGGGGG 3 -- ng51""8Minor allele frequency- T:0.31NS NA 480""
    ""
    rs26756921,2
    		C,F,A,H82282319(-) TGGCCA/TGGTTG 4 -- ng51""10Minor allele frequency- T:0.18NS EA NA 514""
    ""
    rs26756931,2
    		C,F,A,H82281386(-) ATCAAG/AGCCCA 4 -- ng51""6Minor allele frequency- A:0.05NS EA 498""
    --
    rs28035551,2
    		C,F,A,H82282401(+) AGTCAC/TGGTGG 4 -- ng51 tfbs3""7Minor allele frequency- T:0.22EA NS NA 272""
    ""
    rs79175721,2
    		C,F,A,H82350265(+) ATGTTC/ATGCAT 2 -- ng31""12Minor allele frequency- A:0.38NS EA NA 874""
    ""
    rs42568971,2
    		C,F,A82282181(+) CACACG/AGCAGC 4 -- ng51""9Minor allele frequency- A:0.21NS EA WA NA 646""
    ""
    rs344995251,2
    		C,F,H82281285(+) TGACTC/ACTCAG 4 -- ng51""2Minor allele frequency- A:0.10NS 92""
    ""
    rs118126011,2
    		C,F,H82282410(+) GGACCT/GGCTGG 4 -- ng51""3Minor allele frequency- G:0.33NA 6""
    --
    rs455161031,2
    		C,F,H88494531(+) CTTTGG/AATCTG 2 -- ut31""4Minor allele frequency- A:0.03NS 324""
    --
    rs455376361,2
    		C,F,H88493369(+) AATTGC/TCAGGG 2 -- ut31""4Minor allele frequency- T:0.01NS 432""
    About this table

    HapMap Linkage Disequilibrium images for LDB3 (up to first 250kb)
    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

    Disorders & Mutations
    for LDB3 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" LDB3 for disorders           About GeneDecksing

    OMIM: 605906

    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 a cause of dilated cardiomyopathy with left ventricular non-compaction [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 ZASP-related (MFM-ZASP) [MIM:609452]. A neuromuscular
    • disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy

    9 ""Novoseek disease relationships for LDB3 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathies 11.89 7 16982050 (2), 19181098 (1), 19105189 (1), 19050726 (1) (see all 6)
    cardiomyopathy dilated 5.84 4 19377068 (4)
    iosca 3.50 1 10427098 (1)
    barth syndrome 2.79 1 17394203 (1)
    left ventricular noncompaction 2.75 1 18379140 (1)
    distal myopathies 2.56 1 17337483 (1)
    cardiomyopathies 2.38 2 18691923 (1), 16476425 (1)
    glycogen storage disease 2.01 1 18691923 (1)
    neuromuscular disease 1.51 1 19050726 (1)
    About this table

    GeneTests: LDB3
    Dilated Cardiomyopathy

    Locus Specific Mutation Databases: LDB3
    Human Gene Mutation Database: LDB3
    Human Genome Epidemiology Navigator: LDB3 (5 documents)

    Medical News
    for LDB3 gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for LDB3 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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      User Feedback    		10/40 PubMed articles for LDB3 gene (see all 40 ):

    Search for LDB3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    Genome Databases showing LDB3 gene

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

    Other Databases showing LDB3 gene

    (According to HUGE)
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    HUGE: KIAA0613 KIAA01613

    Specialized Databases showing LDB3 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    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 XenneX, Inc.)
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      User Feedback    		Patent Information for LDB3 gene: ""
    Search GeneIP for patents involving LDB3

    GeneCards and IP: ""
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    Services
    for LDB3 gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    Products for LDB3:
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