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FLASH GENE
Symbol LTBP2 contributors: mct/npt - updated : 25-05-2018
HGNC name latent transforming growth factor beta binding protein 2
HGNC id 6715
Corresponding disease
GLC3D glaucoma, primary 3D, congenital (buphtalmos)
MSPKA microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
WMS3 Weill-Marchesani syndrome 3
Location 14q24.3      Physical location : 74.964.888 - 75.079.034
Synonym name
  • chromosome 14 open reading frame 141
  • latent transforming growth factor beta binding protein 2
  • Synonym symbol(s) LTBP3, MSTP031, C14orf141
    DNA
    TYPE functioning gene
    STRUCTURE 114.15 kb     36 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map cen - D14S63 - D14S268 - D14S1036 - LTBP2 - D14S74 - D14S68 - qter
    Authors Cheung (2008)
    Physical map
    ZAP128 14q24.3 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 NT5CP1 14q24.2 5',3'-nucleotidase, cytosolic pseudogene 1 PTE2B 14q24.2 peroxisomal acyl-CoA thioesterase 2B C14orf42 14q24.1 chromosome 14 open reading frame 42 NDUFB8P1 14 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 C14orf168 14q24.3 chromosome 14 open reading frame 168 PNMA1 14q24.2 paraneoplastic antigen MA1 ZADH1 14q24.1-q24.2 zinc binding alcohol dehydrogenase, domain containing 1 ZNF410 14q24.3 zinc finger protein 410 C14orf44 14q24.2 chromosome 14 open reading frame 44 COQ6 14q24.2 coenzyme Q6 homolog (yeast) ENTPD5 14q24 ectonucleoside triphosphate diphosphohydrolase 5 RPL41P4 14 ribosomal protein L41 pseudogene 4 C14orf45 14q24.2 chromosome 14 open reading frame 45 ALDH6A1 14q24.2 aldehyde dehydrogenase 6 family, member A1 C14orf46 14q24.2 chromosome 14 open reading frame 46 CHX10 14q24.3 ceh-10 homeo domain containing homolog (C. elegans) ABCD4 14q24.3 ATP-binding cassette, sub-family D (ALD), member 4 C14orf115 14q24.2 chromosome 14 open reading frame 115 RPS2P2 14 ribosomal protein S2 pseudogene 2 NPC2 14q24.3 Niemann-Pick disease, type C2 HBLD1 14q24.2 HESB like domain containing 1 C14orf141 14q24.2 chromosome 14 open reading frame 141 LTBP2 14q24.3 latent transforming growth factor beta binding protein 2 KIAA0317 14q22.1-q24.3 latent transforming growth factor beta binding protein 2 C14orf111 14q24.2 chromosome 14 open reading frame 111 C14orf170 14q24.3 chromosome 14 open reading frame 170 FLJ36749 14q24.2 hypothetical protein FLJ36749 LOC390494 14 similar to DC3 DLST 14q24.3 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) RPS6KL1 14q24.2 ribosomal protein S6 kinase-like 1 PGF 14q24.3 placental growth factor, vascular endothelial growth factor-related protein EIF2B2 14q24.3 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa MLH3 14q24.3 mutL homolog 3 (E. coli) LOC387998 14 similar to Acylphosphatase, organ-common type isozyme (Acylphosphate phosphohydrolase) (Acylphosphatase, erythrocyte isozyme) C14orf140 14q24.2 chromosome 14 open reading frame 140 NEK9 14q24.2 NIMA (never in mitosis gene a)- related kinase 9 TMP21 14q24.3 NIMA (never in mitosis gene a)- related kinase 9 LOC338918 14q24.2 hypothetical LOC338918 FOS 14q24.3 v-fos FBJ murine osteosarcoma viral oncogene homolog LOC341912 14q24.2 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    36 - 8568 195 1821 - 2008 18697872
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Nervousnerve   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines melanoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal fibrillin 4-cys motif
  • a non cbEGF-like motif
  • a proline-rich linker
  • a LT 4-cys motif
  • a second non cbEGF, 18 other EGF-like motifs (one each)
  • four cystine repeats (one of F, three of LT type)
  • RGD putative integrin recognition site
  • C-terminal fragment could block the interaction of the LTBP1 fragment with the fibrillin (Hirani 2007)
  • mono polymer homomer
    HOMOLOGY
    intraspecies homolog to LTBP1
    homolog to fibrillin
    Homologene
    FAMILY
  • fibrillin/LTBP extracellular matrix glycoprotein superfamily
  • LTBP family
  • CATEGORY adhesion , structural protein , signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    text
  • extracellular matrix
  • showed extensive co-localization with fibrillin-1 and elastic lamellae (Hirani 2007)
  • basic FUNCTION
  • TGF-beta is released from the extracellular matrix by proteases, localized to cell surfaces
  • may play an integral structural role in elastic-fiber architectural organization and/or assembly
  • targeting latent TGF-beta to the matrix
  • having possibility to compete with LTBP1 for binding to fibrillin-containing microfibrils throughout the aortic wall but particularly in the outer medial region where the LTBP1 is predominantly located (Hirani 2007)
  • may be an indirect negative modulator for storage of the large latent TGF-beta complex on microfibrils in aorta and other fibrillin-rich tissues (Hirani 2007)
  • essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone (Ali 2009)
  • may have a negative regulatory role during elastic fiber assembly, perhaps in displacing elastin microassemblies from complexes with FBLN5 and/or cell surface heparan sulfate proteoglycans
  • prominent pericellular component of annular fibrochondrocytes in the posterior annulus fibrosus (AF), interstitial matrix adjacent to nucleus pulposus (NP) cells
  • is an essential component for the formation of microfibril bundles in ciliary zonules
  • is a potent inhibitor of FGF2 that may influence FGF2 bioactivity during wound repair particularly in fibrotic tissues
  • plays vital roles in tumorigenesis through regulating TGFB1 activity, elastogenesis and maintenance of the extracellular matrix (ECM) structure
  • acts as an oncogene in head and neck squamous cell carcinoma development and progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • not bound to latent TGFB1 independent component of microfibrils
  • component of LAP which is a homodimer formed from the propeptide TGF-beta
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specifically binds to the amino-terminal region of fibrillin-1, but not to fibrillin-2 (Hirani 2007)
  • LTBP2, LTBP3 inhibit the proprotein convertase PCSK5
  • in response to tension stress, may negatively control the function of FBLN5, thereby modulating the mechanism of oxytalan fiber coalescence
  • LTBP2 is a potent inhibitor of FGF2 that may influence FGF2 bioactivity during wound repair particularly in fibrotic tissues
  • cell & other
  • has widespread association with fibrillin-containing microfibrils in developing aorta and other tissues (Hirani 2007)
  • REGULATION
    activated by cell-associated plasmin
    ASSOCIATED DISORDERS
    corresponding disease(s) GLC3D , MSPKA , WMS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Marfan syndrome
    tumoral     --over  
    in pancreatic ductal adenocarcinoma (PDAC) tissue
    Susceptibility to BMD variation (bone mineral density) in trochanter and total hip
    Variant & Polymorphism other strong genetic association between LTBP2 gene locus and total hip BMD variation
    Candidate gene
    Marker
  • LTBP2 powerfully predicted early pulmonary death (LTBP2 levels were significantly higher in patients dying from pulmonary causes)
  • serum LTBP2 levels might act as a promising biomarker in heart failure with reduced ejection fraction (HFREF)
  • is a novel biomarker for the diagnosis of Pancreatic cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    may be a potential target for PDAC clinical therapy
    ANIMAL & CELL MODELS