TMEM106B

Chr 7p21.3

transmembrane protein 106B

Aliases:: MGC33727, FLJ11273
MANE:: ENST00000396668.8

OMIM: 613413 ↗NCBI: 54664 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TMEM106B · Q9NUM4

v62025-08-01

Predicted Aligned Error matrix for TMEM106B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.9/ 100

Confident

274 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)9%
Low(50–70)13%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited white matter disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

leukodystrophy, hypomyelinating, 16
0.71
major depressive disorder
0.53
type 2 diabetes mellitus
0.49
coronary artery disorder
0.47
Alzheimer disease
0.45
diabetes mellitus
0.44
frontotemporal dementia
0.43
dementia
0.42
mental disorder
0.42
insomnia
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane protein 106B

In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). May act as a molecular brake for retrograde transport of late endosomes/lysosomes, possibly via its interaction with MAP6 (By similarity). In motoneurons, may mediate the axonal transport of lysosomes and axonal sorting at the initial segment (By similarity). It remains unclear whether TMEM106B affects the transport of moving lysosomes in the anterograde or retrograde direction in neurites and whether it is important in the sorting of lysosomes in axons or in dendrites (By similarity). In neurons, may also play a role in the regulation of lysosomal size and responsiveness to stress (PubMed:25066864). Required for proper lysosomal acidification (By similarity)