TBC1D2 (TBC1 domain family member 2)

2016-10-01

Identity

HGNC

TBC1D2

LOCATION

9q22.33

LOCUSID

55357

ALIAS

PARIS-1,PARIS1,TBC1D2A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55357
MIM: 609871
HGNC: 18026
Ensembl: ENSG00000095383

Variants:

dbSNP: 55357
ClinVar: 55357
TCGA: ENSG00000095383
COSMIC: TBC1D2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000095383	ENST00000342112	Q9BYX2
ENSG00000095383	ENST00000375063	Q9BYX2
ENSG00000095383	ENST00000375063	A0A024R166
ENSG00000095383	ENST00000375064	Q9BYX2
ENSG00000095383	ENST00000375066	Q9BYX2
ENSG00000095383	ENST00000465784	Q9BYX2

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Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Membrane Trafficking	REACTOME	R-HSA-199991
TBC/RABGAPs	REACTOME	R-HSA-8854214
Vesicle-mediated transport	REACTOME	R-HSA-5653656

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20116244	2010	Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation.	56
20116244	2010	Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation.	56
20583170	2010	Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.	13
20583170	2010	Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.	13
20944657	2011	Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.	12
20944657	2011	Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.	12
23285084	2012	miR-17-5p regulates endocytic trafficking through targeting TBC1D2/Armus.	24
23285084	2012	miR-17-5p regulates endocytic trafficking through targeting TBC1D2/Armus.	24
23562278	2013	The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy.	53
23562278	2013	The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy.	53

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Citation

Dessen P

TBC1D2 (TBC1 domain family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56425