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FLASH GENE

Symbol

TMEM106B

contributors: mct/npt/pgu - updated : 22-12-2018

HGNC name	transmembrane protein 106B
HGNC id	22407

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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