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FLASH GENE
Symbol TGM6 contributors: mct - updated : 27-08-2014
HGNC name transglutaminase 6
HGNC id 16255
Corresponding disease
SCA35 spinocerebellar ataxia 35
Location 20p13      Physical location : 2.361.553 - 2.413.399
Synonym symbol(s) TGY, TGM3L, TG6
EC.number 2.3.2.13
DNA
TYPE functioning gene
STRUCTURE 51.85 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
PTPNS1L2 20p13 protein tyrosine phosphatase, non-receptor type substrate 1-like 2 SIRPB1 20p13 signal-regulatory protein beta 1 SIRPB2 20p13 signal-regulatory protein beta 2 LOC391227 20 similar to Signal-regulatory protein beta-2 precursor (SIRP-beta-2) (SIRP-b2) LOC388779 20 LOC388779 PTPNS1 20p13 protein tyrosine phosphatase, non-receptor type substrate 1 PDYN 20p13 prodynorphin RPL7P2 20p13 ribosomal protein L7 pseudogene 2 STK35 20 serine/threonine kinase 35 LOC388780 20 LOC388780 TGM3 20p13 transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) TGM6 20p13 transglutaminase y SNRPB 20p13 small nuclear ribonucleoprotein polypeptides B and B1 MGC10715 20p13 novel C2H2 type zinc finger protein TMC2 20p13 transmembrane, cochlear expressed, 2 NOL5A 20p13 nucleolar protein 5A (56kDa with KKE/D repeat) IDH3B 20p13 isocitrate dehydrogenase 3 (NAD+) beta KIAA1442 20p13 KIAA1442 protein RPL19P1 20p13 ribosomal protein L19 pseudogene 1 CPXM 20p12.3-p13 carboxypeptidase X (M14 family) C20orf141 20p13 chromosome 20 open reading frame 141 LOC388781 20 similar to RIKEN cDNA 4933425O20 C20orf81 20p13 chromosome 20 open reading frame 81 VPS16 20p13-p12 vacuolar protein sorting 16 (yeast) PTPRA 20p13 protein tyrosine phosphatase, receptor type, A GNRH2 20p13 gonadotropin-releasing hormone 2 MRPS26 20p13 mitochondrial ribosomal protein S26 OXT 20p13 oxytocin, prepro- (neurophysin I) AVP 20p13 arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) UBCE7IP5 20p13 likely ortholog of mouse ubiquitin conjugating enzyme 7 interacting protein 5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 splicing 2292 79.3 706 - Thomas (unpublished)
12 splicing 2158 70.5 625 - Thomas (unpublished)
  • lacking sequence from exon 12 encoding for the second beta-barrel domain
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebrain  predominantly Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure
  • at least two beta-barrel domain
  • HOMOLOGY
    interspecies ortholog to murine Tgm6
    Homologene
    FAMILY
  • transglutaminase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing R-glutaminyl-peptide, amine-gamma-glutamyl transferase reaction
  • critical role for TGM6 in cortical and cerebellar neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • one Ca2+ per subunit
  • protein
  • interacts with polyQ proteins and promotes the formation of polyQ aggregates
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA35
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    promotes the formation of polyQ aggregates and the conversion of soluble polyQ into insoluble polyQ aggregates
    Susceptibility to acute myeloid leukaemia (AML)
    Variant & Polymorphism other
  • missense mutation in TGM6 c.1550T>G, p.(L517W) increasing the risk of AML
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS