Ccdc40 - coiled-coil domain containing 40 Gene
Also Known as B930008I02Rik
Species: Mus musculus
Summary
Involved in epithelial cilium movement involved in determination of left/right asymmetry; lung development; and protein localization to cilium. Acts upstream of or within axoneme assembly and determination of left/right symmetry. Located in cilium and cytoplasm. Is active in motile cilium. Is expressed in several structures, including central nervous system; node; olfactory epithelium; and respiratory system. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 (coiled-coil domain containing 40). [provided by Alliance of Genome Resources, Apr 2022]
Ccdc40 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001364767.2 | NP_001351696.1 | coiled-coil domain-containing protein 40 isoform 1 |
| NM_001408391.1 | NP_001395320.1 | coiled-coil domain-containing protein 40 isoform 2 |
| NM_001408393.1 | NP_001395322.1 | coiled-coil domain-containing protein 40 isoform 3 |
| NM_001408394.1 | NP_001395323.1 | coiled-coil domain-containing protein 40 isoform 4 |
| NM_001408395.1 | NP_001395324.1 | coiled-coil domain-containing protein 40 isoform 5 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within axoneme assembly |
IMP
IMP: Inferred from mutant phenotype
|
26387594 | MGI |
| involved in cilium movement |
IMP
IMP: Inferred from mutant phenotype
|
21131974 | MGI |
| acts upstream of or within determination of left/right symmetry |
IGI
IGI: Inferred from genetic interaction
|
28182636 | MGI |
| involved in epithelial cilium movement involved in determination of left/right asymmetry |
IMP
IMP: Inferred from mutant phenotype
|
21131974 | MGI |
| involved in lung development |
IMP
IMP: Inferred from mutant phenotype
|
21131974 | MGI |
| involved in protein localization to cilium |
IMP
IMP: Inferred from mutant phenotype
|
26387594 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cilium |
IDA
IDA: Inferred from direct assay
|
21131974 | MGI |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
21131974 | MGI |
| is active in motile cilium |
IDA
IDA: Inferred from direct assay
|
26387594 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
coiled-coil domain-containing protein 40 |
|