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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
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