Gene

DYNLT2B

Species
Homo sapiens
Symbol
DYNLT2B
Name
dynein light chain Tctex-type 2B
Synonyms
  • dynein light chain Tctex-type protein 2B
  • MGC33212
Biotype
protein coding gene
Automated Description
Enables dynein intermediate chain binding activity. Involved in cilium organization; regulation of cilium assembly; and regulation of intraciliary retrograde transport. Located in ciliary base and cytoskeleton. Part of cytoplasmic dynein complex. Implicated in asphyxiating thoracic dystrophy.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21255
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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None
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

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      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          DYNLT2B molecule type
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            Genetic Interactions

            DYNLT2B role
            DYNLT2B genetic perturbation
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