Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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