Dynein light chain Tctex-type 2B (DYNLT2B) Associated conditions: 1. Asphyxiating thoracic dystrophy 3
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001351628.2 | NP_001338557.1 | NC_000003.12 | (196291218..196318239, complement) | Reference GRCh38.p14 Primary Assembly | Q8WW35 |
| 2 | REVIEWED | NM_152773.5 | NP_689986.2 | NC_000003.12 | (196291218..196318239, complement) | Reference GRCh38.p14 Primary Assembly | Q8WW35 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Dynein light chain Tctex-type 2B (DYNLT2B) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Dynein light chain Tctex-type 2B (DYNLT2B)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IDA | colocalizes_with | spindle pole | Component | 25830415 |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 20195357 25910212 26044572 27173435 32296183 |
| 3 | Homo sapiens | IBA | is_active_in | cytoplasm | Component | 21873635 |
| 4 | Homo sapiens | IDA | colocalizes_with | centrosome | Component | 25830415 |
| 5 | Homo sapiens | IBA | part_of | cytoplasmic dynein complex | Component | 21873635 |
| 6 | Homo sapiens | IDA | part_of | cytoplasmic dynein complex | Component | 25205765 25830415 |
| 7 | Homo sapiens | IDA | colocalizes_with | axoneme | Component | 25830415 |
| 8 | Homo sapiens | IBA | involved_in | microtubule-based movement | Process | 21873635 |
| 9 | Homo sapiens | IDA | colocalizes_with | interphase microtubule organizing center | Component | 25830415 |
| 10 | Homo sapiens | IMP | involved_in | intraciliary retrograde transport | Process | 29742051 |
| 11 | Homo sapiens | IBA | enables | dynein intermediate chain binding | Function | 21873635 |
| 12 | Homo sapiens | IPI | enables | dynein intermediate chain binding | Function | 25830415 |
| 13 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 25830415 |
| 14 | Homo sapiens | IDA | colocalizes_with | ciliary base | Component | 25830415 |
| 15 | Homo sapiens | IEA | located_in | dynein axonemal particle | Component | - |
| 16 | Homo sapiens | IMP | involved_in | regulation of cilium assembly | Process | 25205765 |
| 17 | Homo sapiens | IMP | involved_in | regulation of intraciliary retrograde transport | Process | 26044572 |