APPL2 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2)

2007-12-01  

Identity

HGNC
APPL2
LOCATION
12q23.3
LOCUSID
55198
ALIAS
DIP13B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55198
MIM: 606231
HGNC: 18242
Ensembl: ENSG00000136044

Variants:

dbSNP: 55198
ClinVar: 55198
TCGA: ENSG00000136044
COSMIC: APPL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136044ENST00000258530Q8NEU8
ENSG00000136044ENST00000539978Q8NEU8
ENSG00000136044ENST00000546731F8VS86
ENSG00000136044ENST00000547439F8VXB0
ENSG00000136044ENST00000549056F8W124
ENSG00000136044ENST00000549974F8VR68
ENSG00000136044ENST00000551662Q8NEU8
ENSG00000136044ENST00000553097F8VWV2
ENSG00000136044ENST00000553109H0YH86

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
150163782004APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment.202
180347742008Membrane targeting by APPL1 and APPL2: dynamic scaffolds that oligomerize and bind phosphoinositides.27
194338652009Endosomal adaptor proteins APPL1 and APPL2 are novel activators of beta-catenin/TCF-mediated transcription.24
216451922011Biochemical characterization of APPL endosomes: the role of annexin A2 in APPL membrane recruitment.12
247630562014APPL proteins modulate DNA repair and radiation survival of pancreatic carcinoma cells by regulating ATM.9
229894062013Multifunctional protein APPL2 contributes to survival of human glioma cells.8
230555242012Membrane curvature protein exhibits interdomain flexibility and binds a small GTPase.8
208145722010APPL proteins FRET at the BAR: direct observation of APPL1 and APPL2 BAR domain-mediated interactions on cell membranes using FRET microscopy.6
265834322016APPL proteins promote TGFβ-induced nuclear transport of the TGFβ type I receptor intracellular domain.6
279868942017Alternative splicing of the OCC-1 gene generates three splice variants and a novel exonic microRNA, which regulate the Wnt signaling pathway.4

Citation

Dessen P

APPL2 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49917/appl2-(adaptor-protein-phosphotyrosine-interacting-with-ph-domain-and-leucine-zipper-2)