TMEM38B Gene Summary [Human]
This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
Details
| Type | Protein Coding |
| Official Symbol | TMEM38B |
| Official Name | transmembrane protein 38B [Source:HGNC Symbol;Acc:HGNC:25535] |
| Ensembl ID | ENSG00000095209 |
| Bio databases IDs | |
| Aliases | transmembrane protein 38B |
| Synonyms | 1600017F22Rik, bA219P18.1, C9orf87, D4Ertd89e, mg33b, OI14, RGD1305703, transmembrane protein 38B, TRIC-B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMEM38B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- protein binding
- TRIC channel
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dyspnea
- osteogenesis imperfecta type XIV
- atypical femur fracture
- respiratory failure
- cyanosis
- hypoxia
- atelectasis
- acidosis
- osteogenesis imperfecta
- congestion
role in cell
- quantity
- number
- differentiation
- accumulation in
- abnormal morphology
- function
- organization
- response by
- ossification by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM38B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transmembrane transport
- lung epithelial cell differentiation
- bone mineralization
- secretion by lung epithelial cell involved in lung growth
- phospholipid biosynthetic process
- endoplasmic reticulum organization
- bone development
- lung alveolus development
- release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- extracellular matrix constituent secretion
- cellular response to caffeine
- establishment of localization in cell
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- sarcoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- potassium channel activity