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

LTBP4 Gene

protein-coding   GIFtS: 62
GCID: GC19P041099

Latent Transforming Growth Factor Beta Binding Protein 4

  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 41 2     ARCL1C2
LTBP-42 3     Latent Transforming Growth Factor-Beta Binding Protein 4L2
LTBP4L2 5     Latent-Transforming Growth Factor Beta-Binding Protein 42
LTBP4S2 5     

External Ids:    HGNC: 67171   Entrez Gene: 84252   Ensembl: ENSG000000900067   OMIM: 6047105   UniProtKB: Q8N2S13   

Export aliases for LTBP4 gene to outside databases

Previous GC identifers: GC19P041742 GC19P041494 GC19P045776 GC19P045790 GC19P037533


(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 LTBP4 Gene:
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to
the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular
matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and
severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, May 2010)

GeneCards Summary for LTBP4 Gene: 
LTBP4 (latent transforming growth factor beta binding protein 4) is a protein-coding gene. Diseases associated with LTBP4 include cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, and cutis laxa, and among its related super-pathways are Rac1 Pathway and Ras Pathway. GO annotations related to this gene include glycosaminoglycan binding and calcium ion binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot: LTBP4_HUMAN, Q8N2S1
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) (By similarity)




(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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LTBP4 gene promoter:
         E2F-4   E2F-3a   E2F-1   E2F-2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLTBP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for LTBP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LTBP4


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

Entrez Gene cytogenetic band: 19q13.1-q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1-q13.2

LTBP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LTBP4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041099:  view genomic region     (about GC identifiers)

Start:
41,098,789 bp from pter      End:
41,135,725 bp from pter
Size:
36,937 bases      Orientation:
plus 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: LTBP4_HUMAN, Q8N2S1 (See protein sequence)
Recommended Name: Latent-transforming growth factor beta-binding protein 4 precursor  
Size: 1624 amino acids; 173435 Da
Subunit: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential
for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Developmental stage: Very low expression in fetal brain, liver, heart, spleen and thymus
Secondary accessions: O00508 O75412 O75413
Alternative splicing: 4 isoforms:  Q8N2S1-1   Q8N2S1-2   Q8N2S1-3   Q8N2S1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LTBP4: NX_Q8N2S1

Explore proteomics data for LTBP4 at MOPED 

Post-translational modifications:

  • UniProtKB: Contains hydroxylated asparagine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N2S1

  • LTBP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LTBP4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001036009.1  NP_001036010.1  NP_003564.2  

    ENSEMBL proteins: 
     ENSP00000470824   ENSP00000469785   ENSP00000472995   ENSP00000469406   ENSP00000204005  
     ENSP00000311905   ENSP00000380031   ENSP00000441054   ENSP00000243562  
    Reactome Protein details: Q8N2S1
    Human Recombinant Protein Products for LTBP4: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LTBP4 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IDA9660815
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    LTBP4 for ontologies           About GeneDecksing



    LTBP4 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for LTBP4 
    Cloud-Clone Corp. CLIAs for LTBP4


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

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

    Graphical View of Domain Structure for InterPro Entry Q8N2S1

    ProtoNet protein and cluster: Q8N2S1

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


    UniProtKB/Swiss-Prot: LTBP4_HUMAN, Q8N2S1
    Similarity: Belongs to the LTBP family
    Similarity: Contains 16 EGF-like domains
    Similarity: Contains 4 TB (TGF-beta binding) domains


    LTBP4 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: LTBP4_HUMAN, Q8N2S1
    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) (By similarity)

         Genatlas biochemistry entry for LTBP4:
    latent transforming growth factor beta,binding protein 4,extracellular matrix component,161kDa (LTBP4-5),expressed
    in the heart,aorta,uterus and small intestine,member of the growth LTBP-fibrillin family,including 4 isoforms

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005024transforming growth factor beta-activated receptor activity NAS9660815
    GO:0005178integrin binding NAS9660815
    GO:0005509calcium ion binding NAS9660815
    GO:0005515protein binding IPI--
    GO:0005539glycosaminoglycan binding NAS9660815
         
    LTBP4 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ltbp4):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     hematopoietic system  immune system  mortality/aging  muscle  respiratory system 
     tumorigenesis 

    LTBP4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LTBP4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LTBP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LTBP4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LTBP4 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate LTBP4:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidLTBP4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): LTBP4 (NM_001042544)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LTBP4


    (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 LTBP4 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 LTBP4 (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 LTBP4
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    LTBP4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LTBP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/18 Interacting proteins for LTBP4 (Q8N2S11, 2, 3 ENSP000003119054) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2865073 MINT-2865092 I2D: score=3 STRING: ENSP00000344782
    ATXN7O152651, 3EBI-947718,EBI-708350 I2D: score=1 
    CACNA1AO005551, 3EBI-947718,EBI-766279 I2D: score=1 
    ATN1P542592, 3, ENSP000003490764MINT-2865035 MINT-2865054 I2D: score=3 STRING: ENSP00000349076
    TRIB3Q96RU73, ENSP000002172334I2D: score=1 STRING: ENSP00000217233
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth TAS9660815
    GO:0006457protein folding TAS9660815
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--
    GO:0007275multicellular organismal development TAS9660815
    GO:0017015regulation of transforming growth factor beta receptor signaling pathway TAS9660815

    LTBP4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LTBP4

    Search CenterWatch for drugs/clinical trials and news about LTBP4

    (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 LTBP4 gene (3 alternative transcripts): 
    NM_001042544.1  NM_001042545.1  NM_003573.2  

    Unigene Cluster for LTBP4:

    Latent transforming growth factor beta binding protein 4
    Hs.466766  [show with all ESTs]
    Unigene Representative Sequence: NM_001042544
    18/44 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 44):
    ENST00000600026 ENST00000602240 ENST00000599016 ENST00000600509 ENST00000594537
    ENST00000598717 ENST00000593738 ENST00000601209 ENST00000595529 ENST00000598677
    ENST00000546155(uc010xvo.1) ENST00000598256 ENST00000598055 ENST00000601032
    ENST00000601560 ENST00000595183 ENST00000600499 ENST00000594457
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate LTBP4:
    hsa-miR-3163
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LTBP4

    Additional mRNA sequence: 

    AF051344.2 AF051345.2 AF054501.1 AF054502.1 AK074499.1 AK128191.1 AK303613.1 AK304612.1 
    AK309484.1 Y13622.1 

    24/37 DOTS entries (see all 37):

    DT.80101153  DT.95343792  DT.91978983  DT.97784319  DT.101981918  DT.95343789  DT.100810831  DT.121434028 
    DT.97798579  DT.92453167  DT.121433977  DT.95309608  DT.121433963  DT.100810826  DT.95342033  DT.95343806 
    DT.86821368  DT.92453160  DT.100810830  DT.92453161  DT.97806619  DT.100030529  DT.40314241  DT.91699951 

    24/343 AceView cDNA sequences (see all 343):

    AI521083 BF058141 BQ687020 CD556726 BM783397 AI581956 BX352703 AI243368 
    BE672981 BQ950007 BM674248 BF001400 AI005082 CD518281 R72581 BQ576259 
    AI971315 BQ879082 BI819580 CA433404 BM671562 BM545298 BG684678 BM835026 

    GeneLoc Exon Structure

    5/34 Alternative Splicing Database (ASD) splice patterns (SP) for LTBP4 (see all 34)    About this scheme

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

    ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c · 27d ^ 28a · 28b · 28c ^
    SP1:                                            -     -                       -     -                 -           -                       -     -               
    SP2:                                            -     -                       -     -                 -           -     -     -     -     -     -     -     -   
    SP3:                                                                                                  -           -     -     -     -     -     -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 29a · 29b ^ 30 ^ 31a · 31b · 31c · 31d ^ 32 ^ 33a · 33b · 33c · 33d ^ 34a · 34b · 34c ^ 35a · 35b ^ 36 ^ 37 ^ 38
    SP1:                                                                          -                                             
    SP2:                                                                          -                                             
    SP3:                                                                          -                                             
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for LTBP4

    (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

    LTBP4 expression in normal human tissues (normalized intensities)      LTBP4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCTCCCT
    LTBP4 Expression
    About this image


    LTBP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Node Cells Atrioventricular Node
             atrial myocardium   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             myometrium   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bronchial Smooth Muscle Cells (HBSM)   
     
     Peripheral Nervous System (Nervous System)
             ganglia   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells

    See LTBP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LTBP4

    SOURCE GeneReport for Unigene cluster: Hs.466766

    UniProtKB/Swiss-Prot: LTBP4_HUMAN, Q8N2S1
    Tissue specificity: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly
    expressed in placenta and lung

        SABiosciences Expression via Pathway-Focused PCR Arrays including LTBP4: 
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LTBP4 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ltbp41 , 5 latent transforming growth factor beta binding protein more1, 5 84.99(n)1
    89.14(a)1
      7 (15.87 cM)5
    1080751  NM_175641.21  NP_783572.21 
     273051365 
    lizard
    (Anolis carolinensis)
    Reptilia LTBP46
    Uncharacterized protein
    53(a)
    1 ↔ 1
    LGf(1900625-1957938)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003334991 latent-transforming growth factor beta-binding protein more 49.73(n)
    43.49(a)
      100333499  XM_002667632.2  XP_002667678.2 
    worm
    (Caenorhabditis elegans)
    Secernentea B0393.53 EGF-like aspartic acid and asparagine
    hydroxylation more
    41(a)
    (best of 2)
      III(4840866-4847880)   --


    ENSEMBL Gene Tree for LTBP4 (if available)
    TreeFam Gene Tree for LTBP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LTBP4 gene
    LTBP32  HMCN12  FBN22  MEGF62  FBN32  FBLN52  EFEMP12  LTBP12  
    LTBP22  FBLN22  FBN12  SCUBE32  EFEMP22  SCUBE12  FBLN72  HMCN22  
    FBLN12  SCUBE22  
    7 SIMAP similar genes for LTBP4 using alignment to 9 protein entries:     LTBP4_HUMAN (see all proteins):
    F9    PROS1    LDLR    HMCN1    LTBP1    LTBP2
    FBN3

    LTBP4 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

    10/925 SNPs in LTBP4 are shown (see all 925)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0641534
    Urban-Rifkin-Davis syndrome (URDS)4--see VAR_0641532 C G mis40--------
    rs58280721,2
    C--41099608(+) TTTTTT/-CCAGG 1 -- int1 trp33Minor allele frequency- -:0.17NA CSA 6
    rs590212771,2
    C--41105559(+) CCCCC-/CTCCCT 3 -- int1 us2k10--------
    rs21953861,2
    C--41107205(-) ggtcgC/Gccgcg 3 -- int1 us2k10--------
    rs21953851,2
    C--41107208(-) ggaggG/Tcgccc 3 -- int1 us2k10--------
    rs557552451,2
    C--41109258(+) TGGGA-/GGGGGA 3 -- int10--------
    rs721179851,2
    C--41122198(+) ATTTA-/AAAA  
            
    AAAAA
    3 -- int10--------
    rs590308011,2
    C--41123093(+) CCAGGG/-TTACG 6 /Y /L fra12Minor allele frequency- -:0.00NA CSA 4
    rs560533151,2
    C--41123549(+) GTCTC-/AAAAA 
     AAAAAAA
    AAAAA
    3 -- int10--------
    rs1134738821,2
    C--41124155(+) TTTTGC/TAGAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for LTBP4 (41098789 - 41135725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LTBP4:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3871n71CNV Loss21882294
    nsv911725CNV Loss21882294
    nsv911726CNV Loss21882294
    nsv911724CNV Loss21882294
    dgv3870n71CNV Loss21882294
    dgv3869n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): LTBP4
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for LTBP4

    (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: 604710   
    OMIM disorders: 613177  
    UniProtKB/Swiss-Prot: LTBP4_HUMAN, Q8N2S1
  • Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]: A syndrome characterized by disrupted pulmonary,
    gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis
    laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and
    diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include
    microretrognathia, flat midface, receding forehead and wide fontanelles. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 18 diseases for LTBP4:    About MalaCards
    cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities    cutis laxa    pulmonary emphysema    intracranial aneurysm
    abdominal aortic aneurysm    aortic aneurysm    rabies    chronic obstructive pulmonary disease
    hyperparathyroidism    macular degeneration    ataxia    hepatitis c
    pancreatic cancer    colorectal cancer    pancreatitis    hepatitis
    adenocarcinoma    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for LTBP4:
    Pulmonary emphysema     Cutis laxa

    LTBP4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LTBP4
    Human Genome Epidemiology (HuGE) Navigator: LTBP4 (11 documents)

    Export disorders for LTBP4 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 LTBP4 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with LTBP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4. (PubMed id 9660815)1, 2, 3, 9 Saharinen J.... Keski-Oja J. (1998)
    2. Sequence and expression of a novel member (LTBP-4) of the family of latent transforming growth factor-beta binding proteins. (PubMed id 9271198)1, 2, 3 Giltay R....Timpl R. (1997)
    3. Assessment of the association between genetic polymor phisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm. (PubMed id 19897194)1, 4, 9 Thompson A.R....Humphries S.E. (2009)
    4. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. (PubMed id 16456143)1, 4, 9 Hersh C.P....Silverman E.K. (2006)
    5. 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)
    6. Polymorphisms in the transforming growth factor beta 1 pathway in relation to colorectal cancer progression. (PubMed id 19998449)1, 4 FAPrsti A....Lenner P. (2010)
    7. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    8. 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)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Mutations in LTBP4 cause a syndrome of impaired pulmo nary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. (PubMed id 19836010)1, 2 Urban Z....Davis E.C. (2009)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8425 HGNC: 6717 AceView: LTBP4 Ensembl:ENSG00000090006 euGenes: HUgn8425
    ECgene: LTBP4 H-InvDB: LTBP4

    (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 LTBP4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LTBP4 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 LTBP4 gene:
    Search GeneIP for patents involving LTBP4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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

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