DYNLT2B

dynein light chain Tctex-type 2B

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000213123
UniProt:: Q8WW35
OMIM:: 617353
Synonyms:: MGC33212, TCTEX1D2

Phenotypes

Mouse phenotype:: decreased food intake
Human ciliopathy phenotype:: short-rib thoracic dysplasia 17 with or without polydactyly

Ciliopathy associations

Short-Rib Thoracic Dysplasia

References: PMID:26044572

Subcellular localization

basal body, transition zone, cilia

References: PMID:41005307, PMID:25205765, PMID:25830415, PMID:26044572

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Transition zone

Function

Dynein-2 light chain, required for cilia function. Associates with WDR34 (25205765) and WDR60, which is required for ciliary protein trafficking, as KO cells show defects in retrograde ciliary protein trafficking (29742051). Causative gene for short-rib polydactyly syndromes. Associates with Dync2h1 and other subunits of the Dync2 complex to deliver specific cargo necessary for ciliogenesis to the base of the cilium (25830415). Mutations cause Jeune asphyxiating thoracic dystrophy (26044572).

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