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FLASH GENE
Symbol C9orf72 contributors: mct - updated : 29-03-2017
HGNC name chromosome 9 open reading frame 72
HGNC id 28337
Corresponding disease
ALSFTD1 amyotrophic lateral sclerosis with dementia 1
Location 9p21.2      Physical location : 27.546.543 - 27.573.842
Synonym name hypothetical protein LOC203228
Synonym symbol(s) MGC23980, ALSFTD, FTDALS
DNA
TYPE functioning gene
STRUCTURE 27.32 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3233 - 481 - 2016 26746986
5 - 1879 - 222 testis 2016 26746986
11 - 3356 - 481 - 2016 26746986
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a DENN (differentially expressed in normal and neoplastic cells) domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nucleus
    basic FUNCTION
  • is required for the normal function of myeloid cells, and altered microglial function may contribute to neurodegeneration in C9orf72 expansion carriers
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EFHD2 co-aggregates and interacts with known neuropathological proteins, such as MAPT, C9orf72, and LRRK2
  • a C9orf72-containing protein complex and a lysosomal site of action are central to C9orf72 function, providing a foundation for the elucidation of direct physiological targets for C9orf72
  • interaction of C9ORF72 with the RAB7L1 GTPase to regulate vesicle trafficking
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALSFTD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis
    constitutional   amplification    
    in frontotemporal lobar degeneration, with anxiety, agitation and memory impairment and frequent motor neuron disease, with extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts
    constitutional     --low  
    by high methylation level was significantly associated with familial ALS
    constitutional       loss of function
    leads to autoimmunity
    Susceptibility to Frontotemporal Lobar Degeneration (FTLD)
    Variant & Polymorphism repeat
  • repeat expansion in C9ORF72 is a common cause of FTLD and often presents with late-onset psychosis or memory impairment
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells