TBC1D2B

TBC1D2B (TBC1 Domain Family Member 2B) is a Protein Coding gene. Gene Ontology (GO) annotations related to TBC1D2B include GTPase activator activity. An important paralog of TBC1D2B is TBC1D2.
Full Name
TBC1 Domain Family Member 2B
Function
GTPase-activating protein that plays a role in the early steps of endocytosis (PubMed:32623794).
Biological Process
Biological Process activation of GTPase activityIBA:GO_Central1 Publication
Biological Process endocytosisIMP:UniProtKB1 Publication
Cellular Location
Early endosome
Involvement in disease
Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO):
An autosomal recessive disorder with variable clinical manifestations including delayed development, hypotonia, seizures, gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Some patients have early normal development followed by developmental regression. Additional variable features are coarse facial features, optic atrophy, sensorineural hearing loss, and ataxia. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles.
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Anti-TBC1D2B antibodies

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Mouse Anti-TBC1D2B Recombinant Antibody (CBYJT-2050) (CBMAB-T1146-YJ)

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Target: TBC1D2B
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Rat, Mouse
Clone: CBYJT-2050
Application*: WB, IP, IF, E
Datasheet SDS

Mouse Anti-TBC1D2B Recombinant Antibody (CBYJT-2049) (CBMAB-T1145-YJ)

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Target: TBC1D2B
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBYJT-2049
Application*: WB, IP, IF, E
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IGImmunochromatography
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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