TBC1D2B - TBC1 domain family member 2B Gene

Also Known as NEDSGO

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23102

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20562859 GOA
Biological Process GO Annotation Evidence References 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 References 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

RabGAP-TBC: Rab-GTPase-TBC domain (665 - 876)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 963 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 2B

TBC1D2B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others TBC1D2B NCBI