Coiled-coil and C2 domain containing 2A (CC2D2A) Associated conditions: 1. Retinitis pigmentosa 2. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001080522.2 | NP_001073991.2 | NC_000004.12 | (15469864..15601556) | Reference GRCh38.p14 Primary Assembly | Q9P2K1 |
| 2 | REVIEWED | NM_001164720.3 | NP_001158192.1 | NC_000004.12 | (15469864..15601556) | Reference GRCh38.p14 Primary Assembly | Q9P2K1 |
| 3 | REVIEWED | NM_001378615.1 | NP_001365544.1 | NC_000004.12 | (15469864..15601556) | Reference GRCh38.p14 Primary Assembly | Q9P2K1 |
| 4 | REVIEWED | NM_001378617.1 | NP_001365546.1 | NC_000004.12 | (15469864..15601556) | Reference GRCh38.p14 Primary Assembly | Q9P2K1 |
| 5 | REVIEWED | NM_020785.2 | NP_065836.2 | NC_000004.12 | (15469864..15601556) | Reference GRCh38.p14 Primary Assembly | Q9P2K1 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Coiled-coil and C2 domain containing 2A (CC2D2A) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Coiled-coil and C2 domain containing 2A (CC2D2A)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 2 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 3 | Homo sapiens | IEA | involved_in | smoothened signaling pathway | Process | - |
| 4 | Homo sapiens | ISS | involved_in | smoothened signaling pathway | Process | - |
| 5 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 6 | Homo sapiens | IBA | is_active_in | ciliary transition zone | Component | - |
| 7 | Homo sapiens | IEA | located_in | ciliary transition zone | Component | - |
| 8 | Homo sapiens | ISS | located_in | ciliary transition zone | Component | - |
| 9 | Homo sapiens | NAS | located_in | ciliary transition zone | Component | 22179047 |
| 10 | Homo sapiens | IEA | part_of | MKS complex | Component | - |
| 11 | Homo sapiens | ISS | part_of | MKS complex | Component | - |
| 12 | Homo sapiens | IEA | involved_in | cilium assembly | Process | - |
| 13 | Homo sapiens | ISS | involved_in | cilium assembly | Process | - |
| 14 | Homo sapiens | IBA | involved_in | protein localization to ciliary transition zone | Process | - |
| 15 | Homo sapiens | IEA | involved_in | protein localization to ciliary transition zone | Process | - |
| 16 | Homo sapiens | NAS | involved_in | protein localization to ciliary transition zone | Process | 22179047 |
| 17 | Homo sapiens | IBA | involved_in | non-motile cilium assembly | Process | - |