TBC1D2B - TBC1 domain family member 2B Gene

Homo sapiens

Also known as NEDSGO

Gene ID: 23102 | Gene type: protein coding

About TBC1D2B

Cytogenetic location: 15q24.3-q25.1 Genomic coordinates (GRCh38): 15:77,994,985-78,077,711 (from NCBI)

This gene has 12 transcripts (splice variants), 198 orthologues, 45 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 23.9), gall bladder (RPKM 19.7) and 25 other tissues.

Summary

Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D2B Products(10)

mRNA	Protein	Name
NM_001387142.1	NP_001374071.1	TBC1 domain family member 2B isoform c
NM_001387143.1	NP_001374072.1	TBC1 domain family member 2B isoform d
NM_001387144.1	NP_001374073.1	TBC1 domain family member 2B isoform e
NM_001387145.1	NP_001374074.1	TBC1 domain family member 2B isoform f
NM_001387146.1	NP_001374075.1	TBC1 domain family member 2B isoform g
NM_001387147.1	NP_001374076.1	TBC1 domain family member 2B isoform h
NM_001387148.1	NP_001374077.1	TBC1 domain family member 2B isoform i
NM_001387149.1	NP_001374078.1	TBC1 domain family member 2B isoform j
NM_015079.6	NP_055894.6	TBC1 domain family member 2B isoform b
NM_144572.2	NP_653173.1	TBC1 domain family member 2B isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endocytosis	IMP IMP: Inferred from mutant phenotype	32623794	GOA
NOT involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17646400	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in early endosome	IDA IDA: Inferred from direct assay	32623794	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBC1D2B Protein Structure

RabGAP-TBC

0
200
400
600
800
963 a.a.

Protein Preferred Names

Protein Names

TBC1 domain family member 2B

TBC1D2B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TBC1D2B	Q9UPU7	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
Intra	TBC1D2B	Q9UPU7	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
Intra	TBC1D2B	Q9UPU7	GABARAP	Homo sapiens	O95166	Pull Down	20562859
Intra	TBC1D2B	Q9UPU7	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
Intra	TBC1D2B	Q9UPU7	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Seizures And Gingival Overgrowth

NEDSGO

Gingival Overgrowth

Gingival Enlargement	Gingival Hyperplasia
Gingival Bulge	Gingival Enlargement Nos
Gingival Hypertrophy	Gum Hypertrophy
Hyperplasia Gum	Gingival Thickening
Hyperplasia Of Gingiva	Hypertrophy Of Gingiva
Hypertrophy Of Mucous Membrane Of Gums

Gingival Hypertrophy

Hypertrophy Of Gingivae

Cherubism

CRBM	Familial Benign Giant-Cell Tumor Of The Jaw
Familial Fibrous Dysplasia Of Jaw	Familial Multilocular Cystic Disease Of The Jaws

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14240	TBC1D2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TBC1D2B	MGD	MGI:1914266
Canis familiaris	TBC1D2B	VGNC	VGNC:47145
Rattus norvegicus	TBC1D2B	RGD	RGD:1307436
Felis catus	TBC1D2B	VGNC	VGNC:65984
Macaca mulatta	TBC1D2B	VGNC	VGNC:78236
Bos taurus	TBC1D2B	VGNC	VGNC:35640

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