APPBP2 (amyloid beta precursor protein binding protein 2)

2003-06-01  

Identity

HGNC
APPBP2
LOCATION
17q23.2
LOCUSID
10513
ALIAS
APP-BP2,HS.84084,PAT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10513
MIM: 605324
HGNC: 622
Ensembl: ENSG00000062725

Variants:

dbSNP: 10513
ClinVar: 10513
TCGA: ENSG00000062725
COSMIC: APPBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000062725ENST00000083182Q92624
ENSG00000062725ENST00000083182A0A024QZ47
ENSG00000062725ENST00000585368K7EIZ9
ENSG00000062725ENST00000588668K7EN61
ENSG00000062725ENST00000589341K7ENN3

Expression (GTEx)

0
5
10
15
20
25
30
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

References

Pubmed IDYearTitleCitations
129155352016Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.41
251948802015Amyloid-β precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit α type-5 and proteasome subunit β type-7.17

Citation

Dessen P

APPBP2 (amyloid beta precursor protein binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/679/appbp2-(amyloid-beta-precursor-protein-binding-protein-2)