TBC1 domain family, member 2B [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.

Nucleotide
Nucleotide sequence from coding region
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

TBC1 domain family, member 2B [Homo sapiens]
TBC1 domain family, member 2B [Homo sapiens]
gi|156230977|gb|AAI52466.1|

Protein
DNMT3B DNA methyltransferase 3 beta [Homo sapiens]
DNMT3B DNA methyltransferase 3 beta [Homo sapiens]
Gene ID:1789

Gene
Gene Links for Nucleotide (Select 1653962091) (1)
Gene
OMIM Links for Protein (Select 525507346) (11)
OMIM
Homo sapiens H6 family homeobox 2 (HMX2), mRNA
Homo sapiens H6 family homeobox 2 (HMX2), mRNA
gi|1887789850|ref|NM_005519.2|

Nucleotide

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Protein