TMEM106A
Transmembrane Protein 106A: A lysosomal-associated protein with potential roles in cellular trafficking and disease
Gene Information Card
| Symbol | TMEM106A |
|---|---|
| Full Name | Transmembrane Protein 106A |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 284086 ncbi.nlm.nih.gov/gene/284086 |
| Ensembl ID | ENSG00000184990 |
| UniProt ID | Q9H0R3 |
| OMIM ID | 613246 |
| HGNC ID | 28700 |
| Aliases | FLJ10769, MGC131799 |
Description
TMEM106A encodes a transmembrane protein localized to lysosomes and endosomes. It is involved in lysosomal trafficking and may play a role in neuronal function. Variants in TMEM106A have been studied in relation to neurodegenerative diseases, though functional characterization remains limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Frontotemporal Dementia (FTD) | Potential modifier of lysosomal function; TMEM106A variants may influence risk or age of onset. | Limited; GWAS and candidate gene studies suggest association, but not confirmed in large cohorts. |
| Amyotrophic Lateral Sclerosis (ALS) | Similar lysosomal pathway involvement as FTD; TMEM106A may modulate TDP-43 pathology. | Preliminary; some studies show altered expression in ALS patient tissues. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.1 | Low |
| Liver | 2.8 | Low |
| Kidney | 4.0 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.8 | Neuroblastoma cell line; moderate expression |
| HEK293 | 4.5 | Embryonic kidney; low expression |
| HeLa | 3.2 | Cervical carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1990622 | SNP | 0.15 (global) | Intronic; associated with altered TMEM106A expression in brain tissue. |
| rs3173615 | SNP | 0.10 (global) | Missense (p.Thr185Ser); functional impact unknown. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal membrane | • integral component of membrane |
| • protein binding |
Pathways
• Lysosome (Reactome: R-HSA-432722)
Protein Summary
TMEM106A is a 274-amino acid transmembrane protein with a single transmembrane domain. It localizes to lysosomal membranes and may regulate lysosomal positioning and function. The protein is expressed in multiple tissues, with highest levels in brain. Its exact molecular function remains under investigation, but it is thought to interact with other lysosomal proteins such as TMEM106B.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM106A Knockout HEK293 Cell Line | EDJ-KQ7416 | Human | 113277 | Details Get a Quote |
| TMEM106A Knockout A-549 Cell Line | EDJ-KQ32597 | Human | 113277 | Details Get a Quote |
| TMEM106A Knockout HCT 116 Cell Line | EDJ-KQ32598 | Human | 113277 | Details Get a Quote |
| TMEM106A Knockout HeLa Cell Line | EDJ-KQ32599 | Human | 113277 | Details Get a Quote |
