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LTBP3 Gene

protein-coding   GIFtS: 60
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 weill-marchesani syndrome 3, recessive, and tooth agenesis, selective, 6. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   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 Chromatin IP Primers for LTBP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Contains hydroxylated asparagine residues (By similarity)1
  • 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 matrix1
  • Glycosylation2 at Asn89, Ser239, Asn349, Thr513, Thr514, Ser519, Ser561, Thr570, Asn845, Asn936,
                                 Thr978, Asn1275
  • Modification sites at PhosphoSitePlus

  • See LTBP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    LTBP3 Human Recombinant Protein Products:

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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

    LTBP3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Browse OriGene Antibodies
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    Search for Antibodies for LTBP3 at Abcam
    Cloud-Clone Corp. Antibodies for LTBP3
    Search ThermoFisher Antibodies for LTBP3
    Search LSBio for Antibodies for LTBP3

    LTBP3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
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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)
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    HGNC Gene Families:
    LTBP: Latent transforming growth factor, beta binding proteins

    Selected InterPro protein domains (see all 8):
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0019838growth factor binding ----
    GO:0050431transforming growth factor beta binding IPI10930463
         
    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/body  immune system  skeleton 
     vision/eye 

    LTBP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ltbp3tm1Bdvc for LTBP3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LTBP3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target LTBP3:
    hsa-mir-149-5p (MIRT045534), hsa-mir-1249 (MIRT035867), hsa-mir-92b-3p (MIRT040731)

    Block miRNA regulation of human, mouse, rat LTBP3 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for LTBP3
    Predesigned siRNA for gene silencing in human, mouse, rat LTBP3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LTBP3

    Clone
    Products:
         
    OriGene clones in human, mouse for LTBP3 (see all 14)
    OriGene ORF clones in mouse, rat for LTBP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LTBP3 (NM_001130144)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LTBP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LTBP3
    Browse ESI BIO Cell Lines and PureStem Progenitors for LTBP3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LTBP3_HUMAN, Q9NS15: Secreted (By similarity). Note=Secretion occurs after coexpression with TGFB1 and requires
    complexing with 'Cys-33' of the TGFB1 propeptide (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0031012extracellular matrix IDA16157329
    GO:0070062extracellular vesicular exosome IDA19199708

    LTBP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    3ERK Signaling
    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

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for LTBP3
        Molecules associated with elastic fibres



    LTBP3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including LTBP3: 
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LTBP3

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

    Selected 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
    HBEGFQ990753, ENSP000002309904I2D: score=1 STRING: ENSP00000230990
    TGFB1P011373, ENSP000002219304I2D: score=1 STRING: ENSP00000221930
    TGFB2P618123, ENSP000003558964I2D: score=1 STRING: ENSP00000355896
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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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    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat LTBP3
    Clone
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    OriGene clones in human, mouse for LTBP3 (see all 14)
    OriGene ORF clones in mouse, rat for LTBP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LTBP3 (NM_001130144)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LTBP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LTBP3
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      QuantiTect SYBR Green Assays in human, mouse, rat LTBP3
      QuantiFast Probe-based Assays in human, mouse, rat LTBP3

    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 

    Selected AceView cDNA sequences (see all 381):

    BM700933 AK024477 BF968664 BQ183824 BM703270 AI800835 BM987062 AI798566 
    AI796911 BQ183497 NM_021070 CA413263 BQ446619 BF688560 BU634373 BQ447531 
    BU542838 CD364986 BC008761 BM713301 BF914442 AI686362 BQ044986 BQ636627 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    LTBP3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Node Cells Atrioventricular Node
             Dorsal Aorta
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Endochondral Facial Bones
    LTBP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LTBP3 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LTBP3 gene from Selected species (see all 13)    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 87.04(n)1
    94.33(a)1
      19 (4.34 cM)5
    169981  NM_008520.21  NP_032546.21 
     57409045 
    chicken
    (Gallus gallus)
    Aves LTBP36
    latent transforming growth factor beta binding pro...
    31(a)
    1 ↔ 1
    3(30485202-30667355) ENSGALG00000010448
    lizard
    (Anolis carolinensis)
    Reptilia LTBP36
    latent transforming growth factor beta binding pro...
    53(a)
    1 ↔ 1
    GL344552.1(35476-53162)
    zebrafish
    (Danio rerio)
    Actinopterygii ltbp31 latent transforming growth factor beta binding protein more 57.35(n)
    54.53(a)
      562912  NM_001257141.1  NP_001244070.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta frac6
    faulty attraction
    16(a)
    1 → many
    3L(7555710-7562599)


    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)
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    Paralogs for LTBP3 gene
    HMCN12  SCUBE32  FBLN52  MEGF62  EFEMP12  LTBP42  SCUBE12  EFEMP22  
    LTBP22  LTBP12  HMCN22  FBLN22  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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LTBP3 (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for LTBP3 (see all 27):    
    About MalaCards
    weill-marchesani syndrome 3, recessive    tooth agenesis, selective, 6    ltbp2-related primary congenital glaucoma    megalocornea - spherophakia - secondary glaucoma
    glaucoma 3, primary congenital, d    ltbp2-related weill-marchesani syndrome    primary congenital glaucoma    tooth agenesis
    weill-marchesani syndrome    tooth agenesis, selective, 1, with or without orofacial cleft    osteosclerosis    abdominal aortic aneurysm
    fatty liver disease    aortic aneurysm    glaucoma    osteosarcoma
    short stature    liver disease    ataxia    hepatitis c

    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)
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    PubMed articles for LTBP3 gene, integrated from 10 sources (see all 38):
    (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. (J. Cell Sci. 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. (Am. J. Hum. Genet. 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. (Hepatology 1998)
    4. Assessment of the association between genetic polymorphisms 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. (Atherosclerosis 2010)
    5. Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. (PubMed id 20587546)1, 4 Nalpas B....Abel L. (Gut 2010)
    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. (J. Bone Miner. Res. 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. (Genome Res. 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. (Mol. Biol. Cell 2000)
    9. The latent transforming growth factor beta binding protein (LTBP) family. (PubMed id 11104663)1, 2 Oklu R. and Hesketh R. (Biochem. J. 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. (Cytokine Growth Factor Rev. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4054 HGNC: 6716 AceView: LTBP3 Ensembl:ENSG00000168056 euGenes: HUgn4054
    ECgene: LTBP3 H-InvDB: LTBP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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