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FLASH GENE
Symbol TMEM106B contributors: mct/npt/pgu - updated : 22-12-2018
HGNC name transmembrane protein 106B
HGNC id 22407
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary   
Lymphoid/Immunelymph node   highly
Urinarybladder    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus interacts with endosomal adaptors and other TMEM106 proteins
  • C-terminus is lumenal
  • conjugated GlycoP
    HOMOLOGY
    intraspecies paralog to TMEM106A
    Homologene
    FAMILY
  • TMEM106 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • transmembrane glycoprotein located within endosome/lysosome compartments
  • basic FUNCTION
  • involved in the development of cognitive impairment in ALS (amyotrophic lateral sclerosis)
  • overexpression of TMEM106B correlates with elevated levels of GRN, possibly by attenuating lysosomal degradation of GRN
  • key role of TMEM106B in the pathological processes of Alzheimer disease
  • undergoes regulated intramembrane proteolysis through SPPL2A
  • neuronal TMEM106B plays a central role in regulating lysosomal size, motility and responsiveness to stress
  • risk factor for the progression of neurodegenerative diseases that are associated with endosomal defects in the aged brain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by lysosomal activities
    ASSOCIATED DISORDERS
    corresponding disease(s) HLD16
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease brains, whereas GRN mRNA levels were elevated
    Susceptibility
  • to frontotemporal lobar degeneration with TARDBP inclusions (FTLD-TDP)
  • to neurodegenerative disease frontotemporal lobar degeneration
  • to Parkinson's disease (PD)
  • Variant & Polymorphism SNP , other
  • variants in TMEM106B are a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism
  • most significant association of decrease of rs1990622, CC genotype with risk of FTLD was observed in the subgroup of GRN mutation carriers (TMEM106B SNPs significantly reduced the disease penetrance in patients with GRN mutations, potentially by modulating GRN levels)
  • variants associated with neurodegenerative disease frontotemporal lobar degeneration risk correlate with increased expression of the 7p21 gene TMEM106B and no other genes
  • rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS