TCTEX1D2
Summary: Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| Tctex1 domain containing 2 | MIM:617353 | Ensembl:ENSG00000213123 | HGNC:HGNC:28482 | PA162405435 | 3q29 |
GO terms in TCTEX1D2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0060271 | cilium assembly |
| BP | IMP | GO:1902017 | regulation of cilium assembly |
| BP | IMP | GO:1905799 | regulation of intraciliary retrograde transport |
| CC | IDA | GO:0000922 | spindle pole |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005868 | cytoplasmic dynein complex |
| CC | IDA | GO:0005930 | axoneme |
| CC | IDA | GO:0031021 | interphase microtubule organizing center |
| CC | IDA | GO:0097546 | ciliary base |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0045505 | dynein intermediate chain binding |
Gene expression in normal tissue: TCTEX1D2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TCTEX1D2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620924 | Intraflagellar transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TCTEX1D2
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