KIAA0586 (KIAA0586) Associated conditions: 1. Joubert syndrome 2. Jeune thoracic dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001244189.2 | NP_001231118.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001244190.2 | NP_001231119.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001244191.2 | NP_001231120.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001244192.2 | NP_001231121.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001244193.2 | NP_001231122.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001329943.3 | NP_001316872.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001329944.2 | NP_001316873.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001329945.2 | NP_001316874.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001329946.2 | NP_001316875.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001329947.2 | NP_001316876.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001364700.1 | NP_001351629.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001364701.2 | NP_001351630.1 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_014749.5 | NP_055564.3 | NC_000014.9 | (58427399..58562089) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information KIAA0586 (KIAA0586) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene KIAA0586 (KIAA0586)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 24421332 |
| 3 | Homo sapiens | IDA | located_in | centrosome | Component | 19144723 21399614 24421332 |
| 4 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 5 | Homo sapiens | IBA | is_active_in | centriole | Component | - |
| 6 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 7 | Homo sapiens | IBA | involved_in | smoothened signaling pathway | Process | - |
| 8 | Homo sapiens | IEA | involved_in | smoothened signaling pathway | Process | - |
| 9 | Homo sapiens | ISS | involved_in | smoothened signaling pathway | Process | - |
| 10 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 11 | Homo sapiens | IBA | is_active_in | ciliary basal body | Component | - |
| 12 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 24421332 |
| 13 | Homo sapiens | IMP | acts_upstream_of_or_within | cilium assembly | Process | 24421332 |
| 14 | Homo sapiens | ISS | involved_in | cilium assembly | Process | - |
| 15 | Homo sapiens | IMP | acts_upstream_of_or_within | regulation of establishment of protein localization | Process | 24421332 |