TBC1 domain family member 2B isoform c [Homo sapiens]

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Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. [Clin Genet. 2022]
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Correia-Costa GR, de Leeuw N, Pfundt R, Sgardioli IC, Dos Santos AP, de Lima Santos M, Gil-da-Silva-Lopes VL, Vieira TP. Clin Genet. 2022 Dec; 102(6):537-542. Epub 2022 Sep 7.
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. [Hum Mutat. 2020]
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, et al. Hum Mutat. 2020 Sep; 41(9):1645-1661. Epub 2020 Jul 15.
Comprehensive screening for novel rab-binding proteins by GST pull-down assay using 60 different mammalian Rabs. [Traffic. 2010]
Comprehensive screening for novel rab-binding proteins by GST pull-down assay using 60 different mammalian Rabs.
Kanno E, Ishibashi K, Kobayashi H, Matsui T, Ohbayashi N, Fukuda M. Traffic. 2010 Apr; 11(4):491-507. Epub 2010 Jan 12.

RefSeq mRNA
See reference mRNA sequence for the TBC1D2B gene (NM_001387142.1).
RefSeq protein isoforms
See 22 reference sequence protein isoforms for the TBC1D2B gene.

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