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Repository for lectin-assisted multimodality data
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MIRAGE
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 |
|---|---|---|
| kidney development | ||
| neural tube closure | ||
| smoothened signaling pathway | ||
| determination of left/right symmetry | ||
| heart development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| cytoskeleton | ||
| ciliary transition zone | ||
| ciliary transition zone | ||
| MKS complex |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- C2 domain-containing protein
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| protein localization to ciliary transition zone |
| InterPro |
|---|
| C2 domain superfamily |
| C2 domain |
| CC2D2A, N-terminal, C2 domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070120 | Meckel syndrome 6 | |
| DOID:0111004 | Joubert syndrome 9 | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:1059 | intellectual disability |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 57545 | Xenbase:XB-GENE-5909194 | ||
| 231214 | MOUSE45129 | ||
| 471148 | PANTR33352 | ||
| 479086 | CANLF12210 | ||
| 498386 | RATNO07807 | ||
| 517240 | BOVIN31866 | ||
| 722845 | MACMU36838 | ||
| 100015780 | MONDO27223 | ||
| 100055932 | HORSE31226 | ||
| 100073678 | ORNAN19668 |
