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

LTBP2 Gene

protein-coding   GIFtS: 62
GCID: GC14M074965

Latent Transforming Growth Factor Beta Binding Protein 2

(Previous name: chromosome 14 open reading frame 141)
(Previous symbols: LTBP3, C14orf141)
  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 21 2     Chromosome 14 Open Reading Frame 1411
LTBP31 2 3 5     MSPKA2
C14orf1411 2 3     MSTP0312
LTBP-22 3     WMS32
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 megalocornea - spherophakia - secondary glaucoma, and ltbp2-related primary congenital glaucoma, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for LTBP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Secreted (By similarity). Note=Localized in nuchal ligament and aorta to the
fibrillin-containing, microfibrillar component of elastic fibers (By similarity)
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:

  • UniProtKB: Contains hydroxylated asparagine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14767

  • LTBP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LTBP2 Protein Expression
    REFSEQ proteins: NP_000419.1  
    ENSEMBL proteins: 
     ENSP00000261978   ENSP00000452110   ENSP00000451477   ENSP00000450668   ENSP00000450471  
    Reactome Protein details: Q14767
    Human Recombinant Protein Products for LTBP2: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LTBP2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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--

    LTBP2 for ontologies           About GeneDecksing



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    Assay Products for LTBP2: 
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    (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
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd

    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


    LTBP2 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: 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 (GO ID links to tree view):    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--
         
    LTBP2 for ontologies           About GeneDecksing


    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 

    LTBP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ltbp2tm1Ship for LTBP2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LTBP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/31 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP2


    (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 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
    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 LTBP2 (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 LTBP2
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    LTBP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LTBP2

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

    3 Interacting proteins for LTBP2 (Q147672, 3 ENSP000002619784) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBLN5Q9UBX52, 3, ENSP000003450084MINT-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 (GO ID links to tree view):    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

    LTBP2 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

    LTBP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about LTBP2

    (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 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
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    8/31 QIAGEN miScript miRNA 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
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    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:

    CN481785 BU528018 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™, 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

    LTBP2 expression in normal human tissues (normalized intensities)      LTBP2 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Endochondral Facial Bones
             Notch-transfected mesenchymal stromal cells (SB623)
             skeleton/cranium/chondrocranium   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Human Pulmonary Artery Smooth Muscle Cells (HPASMC)   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
             Ciliary Ganglion   
     
     Fibroblast
             Detroit 551
             Human Choroid Plexus Fibroblasts (HCPF)   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Node Cells Atrioventricular Node
             heart/valve   

    See LTBP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LTBP2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including LTBP2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LTBP2 gene from 4/10 species (see all 10)    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 82.99(n)1
    81.33(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 66.31(n)
    59.59(a)
      428888  XM_426444.3  XP_426444.3 
    lizard
    (Anolis carolinensis)
    Reptilia LTBP26
    latent transforming growth factor beta binding pro...
    54(a)
    1 ↔ 1
    1(22965620-23119671)
    worm
    (Caenorhabditis elegans)
    Secernentea B0393.53 EGF-like aspartic acid and asparagine
    hydroxylation more
    39(a)
    (best of 2)
      III(4840866-4847880)   --


    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)
    About This Section
    Paralogs for LTBP2 gene
    LTBP32  HMCN12  FBN22  MEGF62  FBN32  FBLN52  LTBP42  EFEMP12  
    LTBP12  FBLN22  FBN12  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    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

    LTBP2 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

    10/2541 SNPs in LTBP2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602091   
    OMIM disorders: 613086  
    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

  • 20/24 diseases for LTBP2 (see all 24):    About MalaCards
    megalocornea - spherophakia - secondary glaucoma    ltbp2-related primary congenital glaucoma    glaucoma 3, primary congenital, d    primary congenital glaucoma
    weill-marchesani-like syndrome    weill-marchesani syndrome    ltbp2-related weill-marchesani syndrome    buphthalmos
    corneal edema    varicose veins    arteriovenous malformation    glaucoma
    brachydactyly    leiomyoma    short stature    hyperparathyroidism
    nasopharyngitis    hepatitis c    hepatocellular carcinoma    melanoma

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

    LTBP2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for LTBP2 gene, integrated from 9 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. (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. (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. (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. (2012)
    5. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    6. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    7. A homozygous mutation in LTBP2 causes isolated micros pherophakia. (PubMed id 20617341)1, 2 Kumar A....Blanton S.H. (2010)
    8. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    9. 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)
    10. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4053 HGNC: 6715 AceView: LTBP2.1 Ensembl:ENSG00000119681 euGenes: HUgn4053
    ECgene: LTBP2 H-InvDB: LTBP2

    (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 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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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