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LTBP2 Gene

protein-coding   GIFtS: 63
GCID: GC14M074965

Latent Transforming Growth Factor Beta Binding Protein 2

(Previous name: chromosome 14 open reading frame 141)
(Previous symbols: LTBP3, C14orf141)
  See LTBP2-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 21 2     MSPKA2 5
LTBP31 2 3 5     WMS32 5
C14orf1411 2 3     Chromosome 14 Open Reading Frame 1411
LTBP-22 3     MSTP0312
GLC3D2 5     Latent-Transforming Growth Factor Beta-Binding Protein 22

External Ids:    HGNC: 67151   Entrez Gene: 40532   Ensembl: ENSG000001196817   OMIM: 6020915   UniProtKB: Q147673   

Export aliases for LTBP2 gene to outside databases

Previous GC identifers: GC14M072493 GC14M068783 GC14M072956 GC14M074035 GC14M055133


(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 LTBP2 Gene:
The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding
proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest
member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been
suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural
component of microfibrils, and a role in cell adhesion. (provided by RefSeq, Jul 2008)

GeneCards Summary for LTBP2 Gene:
LTBP2 (latent transforming growth factor beta binding protein 2) is a protein-coding gene. Diseases associated with LTBP2 include ltbp2-related primary congenital glaucoma, and primary congenital glaucoma. GO annotations related to this gene include growth factor binding and calcium ion binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot: LTBP2_HUMAN, Q14767
Function: May play an integral structural role in elastic-fiber architectural organization and/or assembly

Gene Wiki entry for LTBP2 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 at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the LTBP2 gene promoter:
         p53   SREBP-1c   STAT5A   RelA   NF-kappaB   SREBP-1b   GATA-1   c-Ets-1   Egr-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): LTBP2 promoter sequence
   Search Chromatin IP Primers for LTBP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LTBP2


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

Entrez Gene cytogenetic band: 14q24   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

LTBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LTBP2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074965:  view genomic region     (about GC identifiers)

Start:
74,964,873 bp from pter      End:
75,079,306 bp from pter
Size:
114,434 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: LTBP2_HUMAN, Q14767 (See protein sequence)
Recommended Name: Latent-transforming growth factor beta-binding protein 2 precursor  
Size: 1821 amino acids; 195052 Da
Subunit: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential
for activation of complex. Interacts with SDC4
Caution: PubMed:7798248 reported that a complex is formed with TGFB1. PubMed:10930463 has shown that there is no
association with TGFB1
Secondary accessions: Q99907 Q9NS51

Explore the universe of human proteins at neXtProt for LTBP2: NX_Q14767

Explore proteomics data for LTBP2 at MOPED

Post-translational modifications: 

  • Contains hydroxylated asparagine residues (By similarity)1
  • Glycosylation2 at Asn181, Asn343, Asn421, Asn616, Thr731, Asn811, Asn1170, Asn1309, Ser1397, Thr1401,
                                 Asn1430, Asn1568
  • Modification sites at PhosphoSitePlus

  • See LTBP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000419.1  
    ENSEMBL proteins: 
     ENSP00000261978   ENSP00000452110   ENSP00000451477   ENSP00000450668   ENSP00000450471  
    Reactome Protein details: Q14767

    LTBP2 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for LTBP2
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    Novus Biologicals LTBP2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LTBP2

     
    Search eBioscience for Proteins for LTBP2 

    LTBP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals LTBP2 Antibodies
    Abcam antibodies for LTBP2
    Cloud-Clone Corp. Antibodies for LTBP2
    Search ThermoFisher Antibodies for LTBP2
    LSBio Antibodies in human, mouse, rat for LTBP2

    LTBP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for LTBP2
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    Search eBioscience for ELISAs for LTBP2 


    (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 7):
     IPR017878 TB_dom
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q14767

    ProtoNet protein and cluster: Q14767

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


    UniProtKB/Swiss-Prot: LTBP2_HUMAN, Q14767
    Domain: Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C (By similarity)
    Similarity: Belongs to the LTBP family
    Similarity: Contains 20 EGF-like domains
    Similarity: Contains 4 TB (TGF-beta binding) domains


    Find genes that share domains with LTBP2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LTBP2_HUMAN, Q14767
    Function: May play an integral structural role in elastic-fiber architectural organization and/or assembly

         Genatlas biochemistry entry for LTBP2:
    latent transforming factor beta binding protein 2,240kDa,with homology to LTBP1 and fibrillin

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI17581631
    GO:0008201heparin binding IEA--
    GO:0019838growth factor binding IEA--
         
    Find genes that share ontologies with LTBP2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LTBP2:
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ltbp2):
     mortality/aging 

    Find genes that share phenotypes with LTBP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ltbp2tm1Ship for LTBP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LTBP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LTBP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LTBP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LTBP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target LTBP2:
    hsa-mir-335-5p (MIRT018706)

    Block miRNA regulation of human, mouse, rat LTBP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LTBP2 (see all 31):
    hsa-miR-579 hsa-miR-3200-5p hsa-miR-4288 hsa-miR-632 hsa-miR-877* hsa-miR-3658 hsa-miR-149 hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmidLTBP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LTBP2
    Predesigned siRNA for gene silencing in human, mouse, rat LTBP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LTBP2

    Clone
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    OriGene clones in human, mouse for LTBP2 (see all 5)
    OriGene ORF clones in mouse, rat for LTBP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LTBP2 (NM_000428)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LTBP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LTBP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP2


    (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
    LTBP2_HUMAN, Q14767: Secreted (By similarity). Note=Localized in nuchal ligament and aorta to the
    fibrillin-containing, microfibrillar component of elastic fibers (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    plasma membrane2
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix TAS7798248
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with LTBP2           About GenesLikeMe


    (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 LTBP2 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


    Find genes that share SuperPaths with LTBP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LTBP2 (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 LTBP2
        Molecules associated with elastic fibres


        Pathway & Disease-focused RT2 Profiler PCR Arrays including LTBP2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LTBP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for LTBP2 (Q147671, 2, 3 ENSP000002619784) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBLN5Q9UBX51, 2, 3, ENSP000003450084EBI-1546118,EBI-947897 MINT-5115605 MINT-5115583 I2D: score=2 STRING: ENSP00000345008
    ABL1P005192, 3, ENSP000003614234MINT-8110515 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111343 I2D: score=3 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting TAS7798248
    GO:0007179transforming growth factor beta receptor signaling pathway TAS8697098
    GO:0009306protein secretion TAS8697098

    Find genes that share ontologies with LTBP2           About GenesLikeMe



    (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 LTBP2

    1 Novoseek inferred chemical compound relationship for LTBP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 2 8524260 (1)



    Find genes that share compounds with LTBP2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LTBP2 gene: 
    NM_000428.2  

    Unigene Cluster for LTBP2:

    Latent transforming growth factor beta binding protein 2
    Hs.512776  [show with all ESTs]
    Unigene Representative Sequence: NM_000428
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261978(uc001xqa.3) ENST00000553939 ENST00000554861 ENST00000556690
    ENST00000556206 ENST00000556359 ENST00000557425
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LTBP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LTBP2 (see all 31):
    hsa-miR-579 hsa-miR-3200-5p hsa-miR-4288 hsa-miR-632 hsa-miR-877* hsa-miR-3658 hsa-miR-149 hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmidLTBP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LTBP2
    Clone
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    GenScript: all cDNA clones in your preferred vector: LTBP2 (NM_000428)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LTBP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LTBP2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LTBP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LTBP2
      QuantiTect SYBR Green Assays in human, mouse, rat LTBP2
      QuantiFast Probe-based Assays in human, mouse, rat LTBP2

    Additional mRNA sequence: 

    AB209865.1 AF113211.1 BC032434.2 BC047742.1 BC062686.1 BC078659.1 S82451.1 Z37976.1 

    8 DOTS entries:

    DT.87016350  DT.91820227  DT.100664712  DT.95310284  DT.100641474  DT.120776488  DT.120776506  DT.86840141 

    7 AceView cDNA sequences:

    BU528018 CN481785 BP352943 BX458805 AW580424 BE818530 CN481503 

    GeneLoc Exon Structure


    (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)
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    LTBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAATAAA
    LTBP2 Expression
    About this image


    LTBP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Cartilage (Muscoskeletal System)
             Laryngeal Cartilage
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Limb (Muscoskeletal System)
             Stylopod
     
     Epidermis (Integumentary System)
             Detroit 551
    LTBP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LTBP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512776

    UniProtKB/Swiss-Prot: LTBP2_HUMAN, Q14767
    Tissue specificity: Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LTBP2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for LTBP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LTBP2
    QuantiTect SYBR Green Assays in human, mouse, rat LTBP2
    QuantiFast Probe-based Assays in human, mouse, rat LTBP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP2

    (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 LTBP2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ltbp21 , 5 latent transforming growth factor beta binding protein more1, 5 82.73(n)1
    81.04(a)1
      12 (39.39 cM)5
    169971  NM_013589.31  NP_038617.31 
     847832125 
    chicken
    (Gallus gallus)
    Aves LTBP21 latent transforming growth factor beta binding protein more 65.35(n)
    57.52(a)
      428888  XM_426444.4  XP_426444.4 
    lizard
    (Anolis carolinensis)
    Reptilia LTBP26
    latent transforming growth factor beta binding pro...
    55(a)
    1 ↔ 1
    1(22965620-23119671)
    zebrafish
    (Danio rerio)
    Actinopterygii ltbp16
    latent transforming growth factor beta binding pro...
    39(a)
    many ↔ many
    17(22786442-22946314) ENSDARG00000056922
    fruit fly
    (Drosophila melanogaster)
    Insecta frac6
    faulty attraction
    21(a)
    1 → many
    3L(7555710-7562599)


    ENSEMBL Gene Tree for LTBP2 (if available)
    TreeFam Gene Tree for LTBP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LTBP2 gene
    LTBP32  HMCN12  SCUBE32  FBLN52  MEGF62  EFEMP12  LTBP42  SCUBE12  
    EFEMP22  HMCN22  LTBP12  FBLN22  FBLN12  SCUBE22  
    13 SIMAP similar genes for LTBP2 using alignment to 6 protein entries:     LTBP2_HUMAN (see all proteins):
    PROS1    F9    FBN3    EFEMP1    FBN2    HMCN1
    LTBP1    FBLN2    NPNT    LTBP4    DKFZp586A1519    FBLN5
    SCUBE2

    Find genes that share paralogs with LTBP2           About GenesLikeMe



    (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 LTBP2 (see all 2541)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686474
    Weill-Marchesani syndrome 3 (WMS3)4--see VAR_0686472 V M mis40--------
    rs1378548571,2
    C,Fnon-pathogenic156009826(-) TGCCAG/TCCCTG 2 S I mis12Minor allele frequency- T:0.01NA EU 5015
    rs1219183551,2
    Cpathogenic156014260(-) CTGTCC/TGACTT 2 R * stg11Minor allele frequency- T:0.00NA 4548
    rs1378548601,2
    C,Fprobable-pathogenic155961594(-) GCAACG/ATGGCT 2 /M /V mis11Minor allele frequency- A:0.00NA 4252
    rs1378548641,2
    Cprobable-pathogenic155962173(-) GCTGCA/GTGAAC 2 M V mis11Minor allele frequency- G:0.00EU 663
    rs1378548611,2
    C,Fprobable-pathogenic156010920(-) TATCCC/TGCAGC 2 P L mis11Minor allele frequency- T:0.00NA 4522
    rs1378548851,2
    Cunknown155962145(-) TGAGTA/GGGCCT 1 -- int10--------
    rs1378548661,2
    Cunknown155962204(-) CCCCCC/GCTCAC 2 P syn10--------
    rs1378548651,2
    Cunknown155963680(-) TGCCCG/ATCTGA 2 /P syn11Minor allele frequency- A:0.00NA 4548
    rs1378548861,2
    C,Funknown155967427(-) CCCCAT/CCTTTT 1 -- int11Minor allele frequency- C:0.00EU 1009

    HapMap Linkage Disequilibrium report for LTBP2 (74964873 - 75079306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for LTBP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657100CNV Deletion23128226
    nsv902099CNV Loss21882294
    nsv832829CNV Loss17160897
    nsv832831CNV Loss17160897
    nsv832830CNV Loss17160897
    nsv826994CNV Gain20364138
    esv25787CNV Gain19812545

    Human Gene Mutation Database (HGMD): LTBP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LTBP2
    DNA2.0 Custom Variant and Variant Library Synthesis for LTBP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602091   
    OMIM disorders: 613086  251750  614819  
    UniProtKB/Swiss-Prot: LTBP2_HUMAN, Q14767
  • Glaucoma 3, primary congenital, D (GLC3D) [MIM:613086]: An autosomal recessive form of primary congenital
    glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood,
    large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular
    meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA)
    [MIM:251750]: A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an
    increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may
    occur, leading to defective accommodation. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Weill-Marchesani syndrome 3 (WMS3) [MIM:614819]: A rare connective tissue disorder characterized by short
    stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis,
    severe myopia and glaucoma. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for LTBP2:    
    About MalaCards
    ltbp2-related primary congenital glaucoma    primary congenital glaucoma    weill-marchesani syndrome    ltbp2-related weill-marchesani syndrome
    weill-marchesani syndrome 1, recessive    tooth agenesis, selective, 6    megalocornea - spherophakia - secondary glaucoma    weill-marchesani syndrome 3, recessive
    glaucoma 3, primary congenital, d    weill-marchesani-like syndrome    varicose veins

    2 diseases from the University of Copenhagen DISEASES database for LTBP2:
    Glaucoma     Weill-Marchesani syndrome

    Find genes that share disorders with LTBP2           About GenesLikeMe

    Genetic Association Database (GAD): LTBP2
    Human Genome Epidemiology (HuGE) Navigator: LTBP2 (10 documents)

    Export disorders for LTBP2 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 LTBP2 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with LTBP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein. (PubMed id 7798248)1, 2, 3, 9 Moren A.... Heldin C. (J. Biol. Chem. 1994)
    2. Analysis of the human gene encoding latent transforming growth factor-beta-binding protein-2. (PubMed id 8697098)1, 2, 9 Bashir M.M.... Rosenbloom J. (Int. J. Biochem. Cell Biol. 1996)
    3. 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, 9 Saharinen J. and Keski-Oja J. (Mol. Biol. Cell 2000)
    4. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. (PubMed id 22539340)1, 2 Haji-Seyed-Javadi R.... Elahi E. (Hum. Mutat. 2012)
    5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    6. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    7. A homozygous mutation in LTBP2 causes isolated microspherophakia. (PubMed id 20617341)1, 2 Kumar A....Blanton S.H. (Hum. Genet. 2010)
    8. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. 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)
    10. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    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: 4053 HGNC: 6715 AceView: LTBP2.1 Ensembl:ENSG00000119681 euGenes: HUgn4053
    ECgene: LTBP2 H-InvDB: LTBP2

    (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 LTBP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LTBP2 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 LTBP2 gene:
    Search GeneIP for patents involving LTBP2

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



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