GTPBP2 (GTP binding protein 2)

2014-11-01  

Identity

HGNC
GTPBP2
LOCATION
6p21.1
LOCUSID
54676
ALIAS
JABELS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54676
MIM: 607434
HGNC: 4670
Ensembl: ENSG00000172432

Variants:

dbSNP: 54676
ClinVar: 54676
TCGA: ENSG00000172432
COSMIC: GTPBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172432ENST00000307114Q9BX10
ENSG00000172432ENST00000307126Q9BX10
ENSG00000172432ENST00000307126A0A024RD30
ENSG00000172432ENST00000419497H0Y4M5
ENSG00000172432ENST00000432918H0Y5J1
ENSG00000172432ENST00000442748H0Y7A5
ENSG00000172432ENST00000452781X6RJ09
ENSG00000172432ENST00000496137H0YF05

Expression (GTEx)

0
10
20
30
40
50
60
70
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

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
266758142016Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.10
294497202018Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.3
301081312018Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.2

Citation

Dessen P

GTPBP2 (GTP binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64103/gtpbp2