TMEM108: Transmembrane Protein 108
A gene encoding a transmembrane protein implicated in neurodevelopmental disorders and potential tumor suppression.
Gene Information Card
| Symbol | TMEM108 |
|---|---|
| Full Name | Transmembrane Protein 108 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 284254 ncbi.nlm.nih.gov/gene/284254 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | Q8N3P4 |
| OMIM ID | 613267 |
| HGNC ID | 26119 |
| Aliases | FLJ32731, MGC131944 |
Description
TMEM108 (Transmembrane Protein 108) is a protein-coding gene located on chromosome 3q13.13. It encodes a multi-pass transmembrane protein of unknown function, but studies suggest roles in neurodevelopment and potential tumor suppression. Expression is enriched in brain tissues, and genetic variants have been associated with schizophrenia and autism spectrum disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Genetic association; variants may alter synaptic function | PMID: 21926972, GWAS catalog |
| Autism Spectrum Disorder | Rare copy number variants and SNPs implicated | PMID: 25363760 |
| Cancer (potential tumor suppressor) | Downregulation in certain tumors; functional studies suggest growth inhibition | PMID: 23455423 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Testis | 6.1 | Low |
| Heart | 2.3 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 4.7 | Low expression |
| U87MG (glioblastoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs117204439 | Missense (p.Arg87Cys) | 0.02% | Unknown; predicted damaging |
| rs148946258 | Missense (p.Val204Met) | 0.01% | Unknown; predicted benign |
| c.1234delC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature truncation are predicted to cause loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) |
Pathways
• Not annotated in major pathway databases
Protein Summary
TMEM108 is a 448-amino acid multi-pass transmembrane protein with no characterized enzymatic activity. It contains a conserved domain of unknown function (DUF). Predicted to localize to the plasma membrane and may participate in cell adhesion or signaling. Expression in brain suggests a role in neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM108 Knockout HEK293 Cell Line | EDJ-KQ15788 | Human | 66000 | Details Get a Quote |
| TMEM108 Knockout HeLa Cell Line | EDJ-KQ57116 | Human | 66000 | Details Get a Quote |
| TMEM108 Knockout A-549 Cell Line | EDJ-KQ65630 | Human | 66000 | Details Get a Quote |
| TMEM108 Knockout HCT 116 Cell Line | EDJ-KQ74053 | Human | 66000 | Details Get a Quote |
