GAB3 (GRB2 associated binding protein 3)

2017-08-01  

Identity

HGNC
GAB3
LOCATION
Xq28
LOCUSID
139716
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 139716
MIM: 300482
HGNC: 17515
Ensembl: ENSG00000160219

Variants:

dbSNP: 139716
ClinVar: 139716
TCGA: ENSG00000160219
COSMIC: GAB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160219ENST00000369568Q8WWW8
ENSG00000160219ENST00000369575Q8WWW8
ENSG00000160219ENST00000424127Q8WWW8
ENSG00000160219ENST00000454973H7C3J9

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
126401252003Gab3-deficient mice exhibit normal development and hematopoiesis and are immunocompetent.18
119975102002Induced expression and association of the Mona/Gads adapter and Gab3 scaffolding protein during monocyte/macrophage differentiation.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
282918202017Gab3 overexpression in human glioma mediates Akt activation and tumor cell proliferation.3
281151662017Gab3 is required for human colorectal cancer cell proliferation.2

Citation

Dessen P

GAB3 (GRB2 associated binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57025/gab3