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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
coiled-coil and C2 domain containing 2A
Summary
- Gene Symbol
-
- CC2D2A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cilium
- Cilium biogenesis/degradation
- Coiled coil
- Cytoskeleton
- Disease variant
- Joubert syndrome
- Meckel syndrome
- Reference proteome
- Retinitis pigmentosa
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9P2K1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| smoothened signaling pathway | ||
| protein localization to ciliary transition zone | ||
| heart development | ||
| cilium assembly | ||
| camera-type eye development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| MKS complex | ||
| ciliary transition zone | ||
| cytoskeleton | ||
| cytosol |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- C2 domain-containing protein
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| protein localization to ciliary transition zone |
| InterPro |
|---|
| C2 domain superfamily |
| CC2D2A, N-terminal, C2 domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050545 | visceral heterotaxy | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0050778 | Meckel syndrome | |
| DOID:0060340 | ciliopathy | |
| DOID:0070120 | Meckel syndrome 6 | |
| DOID:0111004 | Joubert syndrome 9 | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:1059 | intellectual disability |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 115591304 | SPAAU69101 | |||
| 115610483 | STRHB18704 | |||
| 116821062 | CHEAB20923 | |||
| 117022518 | RHIFE18753 | |||
| 118895812 | BALMU28341 | |||
| 122218602 | PANLE26385 | |||
| 129035517 | 9600_0:001558 |
