TMEM38A
Transmembrane Protein 38A, a key component of the intracellular calcium release channel complex
Gene Information Card
| Symbol | TMEM38A |
|---|---|
| Full Name | Transmembrane Protein 38A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 79041 ncbi.nlm.nih.gov/gene/79041 |
| Ensembl ID | ENSG00000105329 |
| UniProt ID | Q9H6F2 |
| OMIM ID | 611236 |
| HGNC ID | 28559 |
| Aliases | TRIC-B, UNQ1881/PRO4325 |
Description
TMEM38A encodes TRIC-B, a monovalent cation channel localized to the endoplasmic reticulum (ER) membrane. It is essential for maintaining calcium homeostasis by providing counter-ion currents during calcium release from the ER via IP3 and ryanodine receptors. Loss-of-function mutations cause autosomal recessive osteogenesis imperfecta type XIV.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta Type XIV | Loss-of-function mutations impair ER calcium release, disrupting bone mineralization and collagen processing | OMIM #615066; ClinVar |
| Osteogenesis Imperfecta with Dentinogenesis Imperfecta | Same mechanism affecting dentin formation | OMIM #615066 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 5.2 | Low |
| Heart | 8.1 | Medium |
| Skeletal Muscle | 7.4 | Medium |
| Brain | 6.3 | Medium |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 9.5 | Endothelial cells |
| HEK 293 | 7.2 | Embryonic kidney |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.507delC | Frameshift | Rare | Loss of function; causes OI type XIV |
| c.296G>A (p.Arg99His) | Missense | Rare | Impaired channel activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced TRIC-B expression or channel activity, causing osteogenesis imperfecta type XIV.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • endoplasmic reticulum (GO:0005783) |
| • calcium ion transmembrane transport (GO:0070588) | • calcium ion transport (GO:0006816) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Endoplasmic reticulum calcium homeostasis
Protein Summary
TRIC-B is a 329-amino acid transmembrane protein with two predicted transmembrane domains. It forms a homotrimeric channel that conducts monovalent cations (K+, Na+) across the ER membrane, facilitating rapid calcium release. It is ubiquitously expressed, with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM38A Knockout HEK293 Cell Line | EDJ-KQ15762 | Human | 79041 | Details Get a Quote |
| TMEM38A Knockout A-549 Cell Line | EDJ-KQ48931 | Human | 79041 | Details Get a Quote |
| TMEM38A Knockout HCT 116 Cell Line | EDJ-KQ48932 | Human | 79041 | Details Get a Quote |
| TMEM38A Knockout HeLa Cell Line | EDJ-KQ48933 | Human | 79041 | Details Get a Quote |
