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FLASH GENE
Symbol LBH contributors: mct - updated : 23-11-2010
HGNC name limb bud and heart development homolog (mouse)
HGNC id 29532
Location 2p23.1      Physical location : 30.454.396 - 30.482.899
Synonym name protein LBH
Synonym symbol(s) DKFZp566J091, MGC104312, MGC163287
DNA
TYPE functioning gene
STRUCTURE 28.50 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2927 12.2 105 - 2008 17390236
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly Homo sapiens
Skeletonaxial skeleton    
cells
SystemCellPubmedSpeciesStageRna symbol
not specificchondrocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text
  • most abundantly expressed in embryonic heart tissue
  • expressed at normal levels in basal and proliferative alveolar mammary epithelial cells during normal mammary gland development
    • PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • a conserved putative nuclear localization signal
  • a glutamate-rich putative transcriptional activation domain but lacks a DNA binding domain (DBD)
    • HOMOLOGY
    Homologene
    FAMILY
  • LBH family
    • CATEGORY regulatory , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text localized to both the nucleus and the cytoplasm
    basic FUNCTION
  • may have an important role of Lbh in transcriptional control during normal cardiogenesis
  • may act as a transcriptional activator in mitogen-activated protein kinase signaling pathway to mediate cellular functions
  • during endochondral bone formation, may negatively regulate vascular invasion and formation of the early ossification center at least in part by interfering with RUNX2 and/or VEGFA expression
  • key transcriptional regulator of vertebrate development
  • linked to the Wnt signaling pathway in both development and cancer
  • may act as a downstream effector of canonical Wnt/CTNNB signaling in both normal and neoplastic epithelial development, which is under the tight control of antagonistic noncanonical WNT7A signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with alphaB-crystallin, CRYAB (interaction that may inhibit synergistically the transcriptional regulation of TP53 and CDKN1A)
  • canonical Wnt target gene
    • cell & other
    REGULATION
    Other its expression is tightly controlled by Wnt signaling
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in aggressive basal subtype breast cancers that display Wnt/beta-catenin hyperactivation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker potential new marker for therapeutically challenging basal-like breast cancers
    Therapy target
    ANIMAL & CELL MODELS