TMEM63B
Transmembrane Protein 63B: A Mechanosensitive Ion Channel Implicated in Neurological Disorders
Gene Information Card
| Symbol | TMEM63B |
|---|---|
| Full Name | Transmembrane Protein 63B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 55362 ncbi.nlm.nih.gov/gene/55362 |
| Ensembl ID | ENSG00000112659 |
| UniProt ID | Q9BVN2 |
| OMIM ID | 618826 |
| HGNC ID | 26118 |
| Aliases | C6orf110, FLJ20489, MGC131831 |
Description
TMEM63B encodes a transmembrane protein that functions as a mechanosensitive ion channel, permeable to cations such as calcium. It is involved in cellular responses to mechanical stimuli and is expressed in various tissues, with notable roles in the nervous system. Mutations in TMEM63B have been linked to neurological disorders, including developmental and epileptic encephalopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations impair mechanosensitive channel activity, disrupting neuronal excitability and synaptic function. | ClinVar, OMIM |
| Intellectual disability | Missense variants may alter channel gating, affecting calcium signaling and neuronal development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | High expression in neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| A549 (lung carcinoma) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | Rare | Alters channel pore region, reducing calcium conductance |
| c.512G>A (p.Arg171His) | Missense | Rare | Impairs mechanosensitivity, linked to epilepsy |
| c.1234delC (p.Leu412Trpfs*15) | Frameshift | Very rare | Loss-of-function, truncates protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt channel pore integrity.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by forming non-functional heteromeric channels.
View complete mutation data：
Gene Ontology (GO)
| • Mechanosensitive ion channel activity (GO:0008381) | • Calcium ion transport (GO:0006816) |
| • Plasma membrane (GO:0005886) | • Response to mechanical stimulus (GO:0009612) |
Pathways
• Mechanotransduction
• Calcium signaling pathway
Protein Summary
TMEM63B is a 789-amino acid transmembrane protein with multiple membrane-spanning domains. It forms a mechanosensitive cation channel that opens in response to membrane stretch, allowing calcium influx. The protein is highly expressed in the brain and is critical for neuronal function. Structural studies suggest a homodimeric or heteromeric assembly with other TMEM63 family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM63B Knockout HEK293 Cell Line | EDJ-KQ12205 | Human | 55362 | Details Get a Quote |
| TMEM63B Knockout A-549 Cell Line | EDJ-KQ40939 | Human | 55362 | Details Get a Quote |
| TMEM63B Knockout HCT 116 Cell Line | EDJ-KQ40940 | Human | 55362 | Details Get a Quote |
| TMEM63B Knockout HeLa Cell Line | EDJ-KQ18251 | Human | 55362 | Details Get a Quote |
