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FLASH GENE
Symbol ST8SIA2 contributors: mct - updated : 16-03-2011
HGNC name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
HGNC id 10870
Location 15q26      Physical location : 92.937.139 - 93.011.956
Synonym name sialyltransferase 8B (alpha-2, 8-sialyltransferase)
Synonym symbol(s) STX, ST8SIA-II, SIAT8B
EC.number 2.4.99.8
DNA
TYPE functioning gene
STRUCTURE 74.00 kb     6 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid    
Nervousbrain    
Respiratoryrespiratory tractlarynx   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text mainly in embryo tissues, highly in fetal brain, kidney and heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
single transmembrane segment and the so-called sialyl motif
conjugated GlycoP
HOMOLOGY
interspecies homolog to murine Siat8b
homolog to C.elegans F46f5.10
Homologene
FAMILY
  • vertebrate sialyltransferase family
  • glycosyltransferase family 29
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • type II membrane protein
  • Golgi (potential)
    • basic FUNCTION
  • catalyzing polysiadic acid synthesis
  • playing a role in development and organogenesis
  • polysialylate the glycans of a small subset of mammalian proteins
  • role of in the terminal differentiation of immature granule neurons
    • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS development , nervous system
    text
  • organogenesis, embryogenesis, morphogenesis
  • neurogenesis
  • N-glycan processing, glycosylation
    • PATHWAY
    metabolism carbohydrate
    signaling
    oligosaccharide biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    down-regulation ofpolysialic acid during oligodendrocyte differentiation is a prerequisite for efficient myelination by mature oligodendrocytes
    Susceptibility
  • to autism spectrum disorders
  • to schizophrenia
    • Variant & Polymorphism SNP , other
  • rs3784730 associated with autism spectrum disorders
  • variation in ST8SIA2 has been associated with risk for schizophrenia in Asian populations
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Inactivation of ST8SiaII in mice alters axonal targeting, involving hippocampal infrapyramidal mossy fibers, and the mice show increased exploration and diminished fear