| Primary Identifier | MGI:1098718 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 52076 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable identical protein binding activity and potassium channel activity. Acts upstream of or within several processes, including cellular response to caffeine; lung development; and regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 14. Orthologous to human TMEM38B (transmembrane protein 38B). PHENOTYPE: Homozygous null newborn mice die of respiratory failure showing atelectasis, pulmonary congestion, impaired maturation of alveolar type II cells, reduced lamellar body formation, abnormal synthesis and secretion of surfactant phospholipids, and impaired Ca2+ release in alveolar type II cells. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
