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FLASH GENE
Symbol TGM3 contributors: mct/npt/shn - updated : 14-05-2015
HGNC name transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)
HGNC id 11779
Corresponding disease
UHS2 uncombable hair syndrome 2
Location 20p13      Physical location : 2.276.612 - 2.321.724
Synonym name
  • protein-glutamine-gamma-glutamyltransferase 3
  • TGase E
  • transglutaminase E
  • protein-glutamine gamma-glutamyltransferase E 27 kDa catalytic chain
    • Synonym symbol(s) TGE, MGC126249, MGC126250, TG(E)
    EC.number 2.3.2.13
    DNA
    TYPE functioning gene
    STRUCTURE 45.11 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure core motif of Ets-binding sequence was determined as ACAGGAAT (-118 to -111 bp from transcriptional start site (Kim 2004)
  • presence of an important element(s) between -126 and -120 bp that affects expression in normal epidermal keratinocytes (Kim 2004)
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 2679 77 693 mouse skin, stomach and testis - 11331204
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  lowly Mus musculusAdultNM_009374
     stomach   highly Mus musculusAdultNM_009374
    Lymphoid/Immunespleen   moderately Mus musculusAdultNM_009374
    Nervousbrainhindbraincerebellum moderately Mus musculusAdultNM_009374
    Reproductivemale systemseminal vesicles  highly Mus musculusAdultNM_009374
    Skin/Tegumentskin   highly Homo sapiensAdultNM_009374
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly Mus musculusAdultNM_009374
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • transglutaminase superfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the cross linking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds
  • involved the later stages of cell envelope formation in the epidermis and hair follicle
  • involved in terminal differentiation processes in the epidermis and contributing also to the physical resistance and the preservation of the hair follicle structure (Thibaut 2009)
  • involved in signal transduction and, like two other TGs (TGM2 and TGM5), is able to bind and hydrolyze guanosine triphosphate (Zocchi 2007)
  • plays a key role in production of the cornified envelope during epidermal differentiation
  • TGM2 (and possibly also TGM3, TGM7) gained vital functions which have not been fully revealed, yet
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Ca2+
    • protein
    cell & other
    REGULATION
    activated by proteolytic processing
    ASSOCIATED DISORDERS
    corresponding disease(s) UHS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in esophageal squamous cell carcinoma (significantly inversely correlated with histological grade of esophageal carcinoma) (Liu 2006)
    Susceptibility
  • to basal cell carcinoma
    • Variant & Polymorphism other
  • TGM3 (rs214782) confer risk of basal cell carcinoma
    • Candidate gene
    Marker
    Therapy target
    corresponding disease(s) UHS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in esophageal squamous cell carcinoma (significantly inversely correlated with histological grade of esophageal carcinoma) (Liu 2006)
    Susceptibility
  • to basal cell carcinoma
    • Variant & Polymorphism other
  • TGM3 (rs214782) confer risk of basal cell carcinoma
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS