InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TMEM106B

Summary

InnateDB Protein

IDBP-237013.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TMEM106B

Protein Name

transmembrane protein 106B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000379902

InnateDB Gene

IDBG-8678 (TMEM106B)

Protein Structure

UniProt Annotation

Function

Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching. {ECO:0000269PubMed:23136129, ECO:0000269PubMed:24357581}.

Subcellular Localization

Late endosome membrane; Single-pass type II membrane protein. Lysosome membrane; Single-pass type II membrane protein.

Disease Associations

Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. Note=The gene represented in this entry acts as a disease modifier. Risk alleles confer genetic susceptibility by increasing gene expression (PubMed:20154673, PubMed:21178100). Increased expression may be the result of down-regulation of microRNA miR-132 and miR-212, that repress TMEM106B expression (PubMed:22895706). Thr-185 is a risk allele associated with lower GRN protein levels and early age at onset in GRN UP-FTD mutation carriers: it presents slower protein degradation that leads to higher steady-state TMEM106B levels, leading to alterations in the intracellular versus extracellular partitioning of GRN (PubMed:23742080). {ECO:0000269PubMed:20154673, ECO:0000269PubMed:21178100, ECO:0000269PubMed:22895706, ECO:0000269PubMed:23742080}.Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269PubMed:24385136, ECO:0000269PubMed:24442578, ECO:0000269PubMed:24488309}. Note=The gene represented in this entry acts as a disease modifier.

Tissue Specificity

Expressed in frontal cortex.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.