TBC1D2 - TBC1 domain family member 2 Gene

Homo sapiens

Also known as PARIS1; PARIS-1; TBC1D2A

Gene ID: 55357 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14234	TBC1D2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14240	TBC1D2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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