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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

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

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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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