TMEM63C
Transmembrane Protein 63C: A Mechanosensitive Ion Channel Involved in Neurological Disorders
Gene Information Card
| Symbol | TMEM63C |
|---|---|
| Full Name | Transmembrane Protein 63C |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 57156 ncbi.nlm.nih.gov/gene/57156 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9P1W3 |
| OMIM ID | 618665 |
| HGNC ID | 26199 |
| Aliases | C14orf37, FLJ10305, OSCA3 |
Description
TMEM63C encodes a member of the OSCA/TMEM63 family of mechanosensitive ion channels. The protein is predicted to form a pore that responds to membrane stretch, mediating calcium influx. TMEM63C is widely expressed, with highest levels in the brain, and is implicated in neuronal function and development. Mutations in TMEM63C have been associated with autosomal recessive intellectual disability and spastic paraplegia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 71 (MRT71) | Loss-of-function mutations impair mechanosensitive channel activity, disrupting neuronal calcium signaling and synaptic function. | OMIM #618665; ClinVar |
| Spastic paraplegia, intellectual disability, and developmental delay | Biallelic TMEM63C variants lead to progressive motor and cognitive deficits, likely due to altered mechanotransduction in neurons. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Medium |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| A549 (lung carcinoma) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Loss of function; premature stop codon leads to nonsense-mediated decay. |
| c.1486G>A (p.Gly496Arg) | Missense | Rare | Likely disrupts pore function; reduced channel activity. |
| c.1963_1964del (p.Leu655Glufs*12) | Frameshift | Rare | Loss of function; truncated protein. |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense variants that reduce or abolish TMEM63C channel activity, leading to autosomal recessive intellectual disability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mechanosensitive ion channel activity (GO:0008381) | • Calcium ion transmembrane transport (GO:0070588) |
| • Plasma membrane (GO:0005886) | • Integral component of membrane (GO:0016021) |
Pathways
• Mechanotransduction
• Calcium signaling pathway
Protein Summary
TMEM63C is a 811-amino acid transmembrane protein with multiple membrane-spanning domains. It functions as a mechanosensitive ion channel, gated by membrane tension, and mediates calcium influx. The protein is highly conserved and expressed in the brain, where it contributes to neuronal excitability and synaptic plasticity. Structural studies suggest a homodimeric or homotrimeric assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM63C Knockout HEK293 Cell Line | EDJ-KQ15771 | Human | 57156 | Details Get a Quote |
| TMEM63C Knockout HCT 116 Cell Line | EDJ-KQ48954 | Human | 57156 | Details Get a Quote |
| TMEM63C Knockout HeLa Cell Line | EDJ-KQ48955 | Human | 57156 | Details Get a Quote |
| TMEM63C Knockout A-549 Cell Line | EDJ-KQ65325 | Human | 57156 | Details Get a Quote |
