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

LTBP3 Gene

protein-coding   GIFtS: 59
GCID: GC11M065306

Latent Transforming Growth Factor Beta Binding Protein 3


(Previous symbol: LTBP2)
  See related diseases
at  

(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
Latent Transforming Growth Factor Beta Binding Protein 31 2     Latent TGF Beta Binding Protein 32
LTBP21 2 5     Latent-Transforming Growth Factor Beta-Binding Protein 32
LTBP-32 3     pp64252
STHAG62 5     

External Ids:    HGNC: 67161   Entrez Gene: 40542   Ensembl: ENSG000001680567   OMIM: 6020905   UniProtKB: Q9NS153   

Export aliases for LTBP3 gene to outside databases

Previous GC identifers: GC11M067821 GC11M066987 GC11M065556 GC11M065081 GC11M065063 GC11M061633


(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 LTBP3 Gene:
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may
be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding
protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for LTBP3 Gene: 
LTBP3 (latent transforming growth factor beta binding protein 3) is a protein-coding gene. Diseases associated with LTBP3 include tooth agenesis, selective, 6, and ltbp2-related weill-marchesani syndrome, and among its related super-pathways are Rac1 Pathway and Ras Pathway. GO annotations related to this gene include growth factor binding and calcium ion binding. An important paralog of this gene is HMCN1.

UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15
Function: May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or
activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role
in the extra cellular matrix (ECM)

Gene Wiki entry for LTBP3 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_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LTBP3 gene promoter:
         Spz1   NRSF form 1   FOXO3   Nkx2-5   NRSF form 2   C/EBPalpha   GATA-2   E2F-1   E2F   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLTBP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for LTBP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LTBP3


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q12

LTBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LTBP3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M065306:  view genomic region     (about GC identifiers)

Start:
65,306,030 bp from pter      End:
65,326,401 bp from pter
Size:
20,372 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: LTBP3_HUMAN, Q9NS15 (See protein sequence)
Recommended Name: Latent-transforming growth factor beta-binding protein 3 precursor  
Size: 1303 amino acids; 139359 Da
Subunit: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential
for activation of complex
Subcellular location: Secreted (By similarity). Note=Secretion occurs after coexpression with TGFB1 and requires
complexing with 'Cys-33' of the TGFB1 propeptide (By similarity)
Sequence caution: Sequence=BAB15767.1; Type=Erroneous initiation;
Secondary accessions: O15107 Q96HB9 Q9H7K2 Q9UFN4
Alternative splicing: 2 isoforms:  Q9NS15-1   Q9NS15-2   

Explore the universe of human proteins at neXtProt for LTBP3: NX_Q9NS15

Explore proteomics data for LTBP3 at MOPED 

Post-translational modifications:

  • UniProtKB: Contains hydroxylated asparagine residues (By similarity)
  • UniProtKB: Two intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, and form interchain bonds
    with TGFB1 propeptide, anchoring it to the extracellular matrix
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NS15

  • LTBP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LTBP3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123616.1  NP_001157738.1  NP_066548.2  

    ENSEMBL proteins: 
     ENSP00000326647   ENSP00000301873   ENSP00000434315   ENSP00000434406   ENSP00000435530  
     ENSP00000432350   ENSP00000431219   ENSP00000436341   ENSP00000436032   ENSP00000435276  
     ENSP00000432121   ENSP00000435146   ENSP00000432476   ENSP00000441912  
    Reactome Protein details: Q9NS15
    Human Recombinant Protein Products for LTBP3: 
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    Novus Biologicals LTBP3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LTBP3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--

    LTBP3 for ontologies           About GeneDecksing



    LTBP3 Antibody Products: 
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    Assay Products for LTBP3: 
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    Cloud-Clone Corp. ELISAs for LTBP3 
    Cloud-Clone Corp. CLIAs for LTBP3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    LTBP: Latent transforming growth factor, beta binding proteins

    5/7 InterPro protein domains (see all 7):
     IPR017878 TB_dom
     IPR000742 EG-like_dom
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q9NS15

    ProtoNet protein and cluster: Q9NS15

    2 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15
    Similarity: Belongs to the LTBP family
    Similarity: Contains 13 EGF-like domains
    Similarity: Contains 4 TB (TGF-beta binding) domains


    LTBP3 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: LTBP3_HUMAN, Q9NS15
    Function: May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or
    activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role
    in the extra cellular matrix (ECM)

         Genatlas biochemistry entry for LTBP3:
    latent transforming growth factor beta,binding protein 3,involved in the formation of extracellular matrix,with
    homology to LTBP1 and fibrillin,including two isoforms,one of them binding to the 100kDa latent TGFB1 complex

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0019838growth factor binding IEA--
         
    LTBP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LTBP3:
     Elongated cells 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ltbp3):
     behavior/neurological  craniofacial  growth/size  immune system  skeleton 
     vision/eye 

    LTBP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ltbp3tm1Bdvc for LTBP3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LTBP3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LTBP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LTBP3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LTBP3 

    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LTBP3 (see all 10):
    hsa-let-7a-2* hsa-miR-138-2* hsa-miR-3171 hsa-miR-583 hsa-miR-374a* hsa-miR-493* hsa-let-7g* hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidLTBP3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP3


    (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

    SuperPaths for LTBP3 About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/54 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LTBP3 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    3        Reactome Pathways for LTBP3
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    LTBP3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LTBP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for LTBP3 (Q9NS152, 3 ENSP000003018734) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF40AO754002, 3MINT-61880 I2D: score=3 
    ITGB5P180843, ENSP000002961814I2D: score=1 STRING: ENSP00000296181
    TGFB1P011373, ENSP000002219304I2D: score=1 STRING: ENSP00000221930
    HBEGFQ990753, ENSP000002309904I2D: score=1 STRING: ENSP00000230990
    TGFB2P618123, ENSP000003558964I2D: score=1 STRING: ENSP00000355896
    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:0001501skeletal system development ----
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    GO:0030198extracellular matrix organization TAS--
    GO:0030502negative regulation of bone mineralization IEA--
    GO:0032331negative regulation of chondrocyte differentiation IEA--

    LTBP3 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 LTBP3

    Search CenterWatch for drugs/clinical trials and news about LTBP3

    (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 LTBP3 gene (3 alternative transcripts): 
    NM_001130144.2  NM_001164266.1  NM_021070.4  

    Unigene Cluster for LTBP3:

    Latent transforming growth factor beta binding protein 3
    Hs.289019  [show with all ESTs]
    Unigene Representative Sequence: NM_001130144
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000322147 ENST00000529582 ENST00000301873(uc001oej.3 uc010roi.2 uc001oei.3 uc010roj.2)
    ENST00000530785(uc001oef.3) ENST00000529189(uc001oeg.3) ENST00000532932(uc001oeh.3)
    ENST00000528516 ENST00000526927 ENST00000532661 ENST00000529371 ENST00000530866(uc010rok.1)
    ENST00000526124 ENST00000530990 ENST00000525443 ENST00000527339 ENST00000528966
    ENST00000529764 ENST00000527792
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate LTBP3 (see all 10):
    hsa-let-7a-2* hsa-miR-138-2* hsa-miR-3171 hsa-miR-583 hsa-miR-374a* hsa-miR-493* hsa-let-7g* hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidLTBP3 3' UTR sequence
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LTBP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP3
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    Additional mRNA sequence: 

    AF011407.1 AF135960.3 AF135961.2 AF318354.1 AK024477.1 AK097212.1 AK127484.1 AK298858.1 
    AK299351.1 AK309230.1 AL117551.1 BC008761.2 BC136277.1 

    24 DOTS entries:

    DT.95207538  DT.100769728  DT.119163  DT.97769026  DT.100045000  DT.40132208  DT.75145151  DT.100045008 
    DT.95375711  DT.100827672  DT.100827673  DT.70103655  DT.100827674  DT.120708867  DT.120708917  DT.91768211 
    DT.91788265  DT.97823087  DT.100045005  DT.100045007  DT.91768215  DT.91768224  DT.86846584  DT.92414950 

    24/381 AceView cDNA sequences (see all 381):

    BU543924 CA411680 BU634373 AI796911 BM680633 BF688560 D60669 CA413263 
    BP367286 BQ218979 BC008761 AI280339 BM713301 NM_021070 BQ446619 BM987062 
    CA392948 BM992907 F26986 BQ447942 BM700933 AK024477 BQ044986 BM552047 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for LTBP3 (see all 21)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:                                                                                                                          -                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a ·
    SP1:  -     -           -                             -                                         -           -           -                                       
    SP2:                    -                             -                                         -           -           -                                       
    SP3:                                                  -                                         -           -                                                   
    SP4:                                                                                            -           -                                                   
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for LTBP3

    (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

    LTBP3 expression in normal human tissues (normalized intensities)      LTBP3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCGCTGGCC
    LTBP3 Expression
    About this image


    LTBP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Endochondral Facial Bones
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
             visceral organ/lung/right lung   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod
             limb/hindlimb/hind-paw   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Node Cells Atrioventricular Node
             Dorsal Aorta
             heart/valve   

    See LTBP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LTBP3

    SOURCE GeneReport for Unigene cluster: Hs.289019

    UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15
    Tissue specificity: Isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small
    intestine and ovary. Isoform 1 is strongly expressed in pancreas and liver

        SABiosciences Expression via Pathway-Focused PCR Array including LTBP3: 
              Stem Cell Signaling in human mouse rat

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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 animals.

    Orthologs for LTBP3 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ltbp31 , 5 latent transforming growth factor beta binding protein more1, 5 87.23(n)1
    94.49(a)1
      19 (4.34 cM)5
    169981  NM_008520.21  NP_032546.21 
     57409045 
    lizard
    (Anolis carolinensis)
    Reptilia LTBP36
    Uncharacterized protein
    52(a)
    1 ↔ 1
    GL344552.1(35476-53162)
    zebrafish
    (Danio rerio)
    Actinopterygii ltbp31 latent transforming growth factor beta binding protein more 57.42(n)
    54.68(a)
      562912  XM_686282.5  XP_691374.5 
    worm
    (Caenorhabditis elegans)
    Secernentea fbl-16
    Fibulin-1
    25(a)
    possible ortholog
    IV(9540806-9546250)


    ENSEMBL Gene Tree for LTBP3 (if available)
    TreeFam Gene Tree for LTBP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LTBP3 gene
    HMCN12  FBN22  MEGF62  FBN32  FBLN52  LTBP42  EFEMP12  LTBP12  
    LTBP22  FBLN22  FBN12  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    FBLN12  SCUBE22  
    12 SIMAP similar genes for LTBP3 using alignment to 14 protein entries:     LTBP3_HUMAN (see all proteins):
    pp6425    EFEMP1    LDLR    FBLN2    EMR1    NELL2
    NPNT    PROS1    HMCN1    LTBP1    FBLN5    UMOD

    LTBP3 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

    10/524 SNPs in LTBP3 are shown (see all 524)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs669739761,2
    C--61641864(+) GTCTC-/GGGGGA 3 -- int10--------
    rs2011720301,2
    --65225856(+) CTGACA/GGTACA 3 -- ds50010--------
    rs2011196771,2
    C--65225862(+) GTACAC/TGGCTG 3 -- ds50011Minor allele frequency- T:0.00EU 213
    rs2021719881,2
    C--65225904(+) CCAGCA/GACAAG 3 -- ds50010--------
    rs115485371,2
    C,F,H--65226056(-) TCACCC/TCAAGA 3 -- ds50019Minor allele frequency- T:0.01NS EA NA 1188
    rs17842211,2
    C,F,H--65226166(-) CCAGTG/ACCTGC 3 -- ds500111Minor allele frequency- A:0.06MN NS EA NA WA 1294
    rs2000417501,2
    C--65226262(-) CCATCC/TCCCGC 3 -- ds50010--------
    rs2007040281,2
    C--65226266(+) GAGATA/GGAGGC 3 -- ds50010--------
    rs1996438621,2
    --65226371(+) GAGCCC/TGCCCC 3 -- ut310--------
    rs159611,2
    C,H--65226426(-) GATGGC/ACTGGC 3 -- ut319Minor allele frequency- A:0.00MN NS NA 672

    HapMap Linkage Disequilibrium report for LTBP3 (65306030 - 65326401 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for LTBP3 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671903CNV Deletion23128226
    esv1637796CNV Insertion17803354
    esv987755CNV Insertion20482838
    dgv1178n71CNV Loss21882294
    nsv897723CNV Loss21882294
    dgv1175n71CNV Loss21882294
    nsv897730CNV Loss21882294
    dgv1176n71CNV Loss21882294
    dgv1177n71CNV Loss21882294
    nsv897719CNV Loss21882294


    Human Gene Mutation Database (HGMD): LTBP3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LTBP3
    DNA2.0 Custom Variant and Variant Library Synthesis for LTBP3

    (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: 602090   
    OMIM disorders: 613097  
    UniProtKB/Swiss-Prot: LTBP3_HUMAN, Q9NS15
  • Tooth agenesis selective 6 (STHAG6) [MIM:613097]: A form of selective tooth agenesis, a common anomaly
    characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated
    systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more
    permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not
    include absence of third molars (wisdom teeth). In tooth agenesis selective type 6, alveolar bone is absent where
    the teeth are missing. Some individuals have short stature. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/22 diseases for LTBP3 (see all 22):    About MalaCards
    tooth agenesis, selective, 6    ltbp2-related weill-marchesani syndrome    ltbp2-related primary congenital glaucoma    primary congenital glaucoma
    weill-marchesani syndrome    tooth agenesis    osteosclerosis    abdominal aortic aneurysm
    fatty liver disease    aortic aneurysm    osteosarcoma    short stature
    liver disease    macular degeneration    glaucoma    hepatitis c
    ataxia    hepatitis    adenocarcinoma    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for LTBP3:
    Weill-Marchesani syndrome     Glaucoma

    LTBP3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for LTBP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteosarcoma 48.1 1 19681046 (1)

    Genetic Association Database (GAD): LTBP3
    Human Genome Epidemiology (HuGE) Navigator: LTBP3 (10 documents)

    Export disorders for LTBP3 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 LTBP3 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with LTBP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta. (PubMed id 12154076)1, 2, 9 Penttinen C....Keski-Oja J. (2002)
    2. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. (PubMed id 19344874)1, 2, 9 Noor A....Vincent J.B. (2009)
    3. Analysis of the expression pattern of the latent transforming growth factor beta binding protein isoforms in normal and diseased human liver reveals a new splice variant missing the proteinase-sensitive hinge region. (PubMed id 9620332)1, 2, 9 Michel K.... Gressner A.M. (1998)
    4. Interferon gamma receptor 2 gene variants are associa ted with liver fibrosis in patients with chronic hepatitis C infection. (PubMed id 20587546)1, 4 Nalpas B....Abel L. (2010)
    5. Assessment of the association between genetic polymor phisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm. (PubMed id 19897194)1, 4 Thompson A.R....Humphries S.E. (2009)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. (PubMed id 10930463)1, 2 Saharinen J. and Keski-Oja J. (2000)
    9. The latent transforming growth factor beta binding protein (LTBP) family. (PubMed id 11104663)1, 2 Oklu R. and Hesketh R. (2000)
    10. Latent transforming growth factor-beta binding proteins (LTBPs) -- structural extracellular matrix proteins for targeting TGF-beta action. (PubMed id 10743502)1, 2 Saharinen J.... Keski-Oja J. (1999)

    (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: 4054 HGNC: 6716 AceView: LTBP3 Ensembl:ENSG00000168056 euGenes: HUgn4054
    ECgene: LTBP3 H-InvDB: LTBP3

    (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 LTBP3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LTBP3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LTBP3 gene:
    Search GeneIP for patents involving LTBP3

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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