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FLASH GENE
Symbol C21orf91 contributors: mct - updated : 03-05-2021
HGNC name chromosome 21 open reading frame 91
HGNC id 16459
DNA
TYPE functioning gene
STRUCTURE 30.38 kb     4 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
4 - 5333 - 221 - 2016 27404227
5 - 5393 - 296 - 2016 27404227
5 - 5396 - 297 - 2016 27404227
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebraincerebral cortex   Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY EURL family
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • is an important new player in neuronal development that is likely to impact on the neuropathogenesis of HSA21-related disorders including Down Syndrome
  • important for accurate oligodendroglial differentiation, influencing their capacity to mature and to myelinate axons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C21orf91 interacts with the coiled-coil domain-containing protein CCDC85B so as to modulate CTNNB1 levels in cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    elevated C21orf91 expression levels induce a gliogenic shift towards the astrocytic lineage reflecting non-equilibrated glial cell populations in Down syndrome brains
    Susceptibility to cold sore
    Variant & Polymorphism
  • different alleles of the newly described gene C21orf91 affect the expression of cold sore phenotypes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS