Intraflagellar transport 74 (IFT74) Associated conditions: 1. Joubert syndrome 2. Bardet-Biedl syndrome 3. Jeune thoracic dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001099222.3 | NP_001092692.1 | NC_000009.12 | (26947109..27066133) | Reference GRCh38.p14 Primary Assembly | Q96LB3 |
| 2 | REVIEWED | NM_001099223.3 | NP_001092693.1 | NC_000009.12 | (26947109..27066133) | Reference GRCh38.p14 Primary Assembly | Q96LB3 |
| 3 | REVIEWED | NM_001099224.3 | NP_001092694.1 | NC_000009.12 | (26947109..27066133) | Reference GRCh38.p14 Primary Assembly | Q96LB3 |
| 4 | REVIEWED | NM_001349928.2 | NP_001336857.1 | NC_000009.12 | (26947109..27066133) | Reference GRCh38.p14 Primary Assembly | Q96LB3 |
| 5 | REVIEWED | NM_025103.4 | NP_079379.2 | NC_000009.12 | (26947109..27066133) | Reference GRCh38.p14 Primary Assembly | Q96LB3 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Intraflagellar transport 74 (IFT74) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | acrosomal vesicle | Component | - |
| 2 | Homo sapiens | IEA | enables | chromatin binding | Function | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 26980730 27173435 28428259 28514442 28625565 32296183 33961781 35271311 40205054 |
| 4 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 5 | Homo sapiens | IDA | located_in | Golgi apparatus | Component | - |
| 6 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 7 | Homo sapiens | IBA | is_active_in | cilium | Component | - |
| 8 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 9 | Homo sapiens | NAS | located_in | cilium | Component | 26980730 |
| 10 | Homo sapiens | TAS | located_in | cilium | Component | - |
| 11 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 12 | Homo sapiens | IDA | part_of | intraciliary transport particle A | Component | 26980730 |
| 13 | Homo sapiens | IBA | part_of | intraciliary transport particle B | Component | - |
| 14 | Homo sapiens | IEA | part_of | intraciliary transport particle B | Component | - |
| 15 | Homo sapiens | ISS | part_of | intraciliary transport particle B | Component | - |
| 16 | Homo sapiens | IEA | located_in | cytoplasmic vesicle | Component | - |
| 17 | Homo sapiens | IEA | located_in | motile cilium | Component | - |
| 18 | Homo sapiens | ISS | located_in | motile cilium | Component | - |
| 19 | Homo sapiens | IDA | located_in | centriolar satellite | Component | - |
| 20 | Homo sapiens | NAS | involved_in | intraciliary anterograde transport | Process | 26980730 |
| 21 | Homo sapiens | IBA | involved_in | intraciliary transport involved in cilium assembly | Process | - |
| 22 | Homo sapiens | IMP | involved_in | intraciliary transport involved in cilium assembly | Process | 23990561 |
| 23 | Homo sapiens | IDA | located_in | ciliary basal body | Component | - |
| 24 | Homo sapiens | IEA | involved_in | intraciliary transport | Process | - |
| 25 | Homo sapiens | IBA | enables | beta-tubulin binding | Function | - |
| 26 | Homo sapiens | IDA | enables | beta-tubulin binding | Function | 23990561 |
| 27 | Homo sapiens | IEA | enables | beta-tubulin binding | Function | - |
| 28 | Homo sapiens | IEA | involved_in | cilium assembly | Process | - |
| 29 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 23990561 |
| 30 | Homo sapiens | NAS | involved_in | cilium assembly | Process | 26980730 |
| 31 | Homo sapiens | TAS | located_in | ciliary tip | Component | - |