TBC1D2 - TBC1 domain family member 2 Gene

Also Known as PARIS1; PARIS-1; TBC1D2A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55357

About TBC1D2

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,198,998-98,255,649 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 45 paralogues. Broad expression in lung (RPKM 7.7), urinary bladder (RPKM 3.8) and 23 other tissues.

Summary

Enables GTPase activator activity and Cadherin binding activity. Involved in positive regulation of GTPase activity. Located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TBC1D2 Products (4)

mRNA Protein Name
NM_001267571.2 NP_001254500.1 TBC1 domain family member 2A isoform 1
NM_001267572.1 NP_001254501.1 TBC1 domain family member 2A isoform 3
NM_001410988.1 NP_001397917.1 TBC1 domain family member 2A isoform 4
NM_018421.4 NP_060891.3 TBC1 domain family member 2A isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IDA
IDA: Inferred from direct assay
20116244 GOA
enables cadherin binding IPI
IPI: Inferred from physical interaction
20116244 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22354992 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
20116244 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 cell junction IDA
IDA: Inferred from direct assay
20116244 GOA
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
20116244 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

TBC1D2 Protein Structure

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (411 - 619)

  • 0
  • 200
  • 400
  • 600
  • 710 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 2A

  • TBC1 domain family, member 2A

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 11

  • PCH11

  • Pontocerebellar Hypoplasia Type 11

  • Pontocerebellar Hypoplasia Due To Tbc1d23

  • Pontocerebellar Hypoplasia 11

  • Doid:0112324
Warburg Micro Syndrome 1

  • Warburg Micro Syndrome

  • Micro Syndrome

  • Warbm

  • WARBM1

  • Warburg Sjo Fledelius Syndrome

  • Warburg-Sjo-Fledelius Syndrome

  • Micro Syndrome 1

  • Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Hyperferritinemia With Or Without Cataract

  • Hyperferritinemia-Cataract Syndrome

  • Hhcs

  • Hereditary Hyperferritinemia With Congenital Cataracts

  • Hyperferritinemia, Hereditary, With Congenital Cataracts

  • Bonneau-Beaumont Syndrome

  • HRFTC

  • Hereditary Hyperferritinemia-Cataract Syndrome

  • Cataract-Hyperferritinemia Syndrome

  • Hyperferritinemia Cataract Syndrome

  • Hereditary Hyperferritinemia Cataract Syndrome
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-183772 TBC1D2-IN-1 / Unkown
HY-RS14234 TBC1D2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS14240 TBC1D2B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta TBC1D2 VGNC VGNC:78157
Felis catus TBC1D2 VGNC VGNC:65978
Canis familiaris TBC1D2 VGNC VGNC:47138
Bos taurus TBC1D2 VGNC VGNC:35633
Mus musculus TBC1D2 MGD MGI:2652885
Rattus norvegicus TBC1D2 RGD RGD:1306860
Others TBC1D2 NCBI