AP2A2 (adaptor related protein complex 2 subunit alpha 2)

2014-08-01  

Identity

HGNC
AP2A2
LOCATION
11p15.5
LOCUSID
161
ALIAS
ADTAB,CLAPA2,HIP-9,HIP9,HYPJ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 161
MIM: 607242
HGNC: 562
Ensembl: ENSG00000183020

Variants:

dbSNP: 161
ClinVar: 161
TCGA: ENSG00000183020
COSMIC: AP2A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183020ENST00000332231O94973
ENSG00000183020ENST00000448903O94973
ENSG00000183020ENST00000524559E9PQP4
ENSG00000183020ENST00000525796E9PNC4
ENSG00000183020ENST00000526753E9PS94
ENSG00000183020ENST00000527024E9PPY8
ENSG00000183020ENST00000528815O94973
ENSG00000183020ENST00000530801E9PPZ3
ENSG00000183020ENST00000531548H0YDE9
ENSG00000183020ENST00000534328E9PR62
ENSG00000183020ENST00000534485H0YEG0

Expression (GTEx)

0
50
100
150
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
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityREACTOMER-HSA-399721
Trafficking of AMPA receptorsREACTOMER-HSA-399719
Trafficking of GluR2-containing AMPA receptorsREACTOMER-HSA-416993
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef Mediated CD4 Down-regulationREACTOMER-HSA-167590
Nef Mediated CD8 Down-regulationREACTOMER-HSA-182218
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Retrograde neurotrophin signallingREACTOMER-HSA-177504
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
PCP/CE pathwayREACTOMER-HSA-4086400
WNT5A-dependent internalization of FZD4REACTOMER-HSA-5099900
WNT5A-dependent internalization of FZD2, FZD5 and ROR2REACTOMER-HSA-5140745
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
LDL-mediated lipid transportREACTOMER-HSA-171052
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Recycling pathway of L1REACTOMER-HSA-437239
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665
VLDL interactionsREACTOMER-HSA-8855121
VLDLR internalisation and degradationREACTOMER-HSA-8866427
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387724522024AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.0
387724522024AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.0
317487842020Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene.15
317487842020Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene.15
300867062018A genetic variant near adaptor-related protein complex 2 alpha 2 subunit gene is associated with coronary artery disease in a Chinese population.3
300867062018A genetic variant near adaptor-related protein complex 2 alpha 2 subunit gene is associated with coronary artery disease in a Chinese population.3
280033332017Regulation of clathrin-mediated endocytosis by hierarchical allosteric activation of AP2.88
280033332017Regulation of clathrin-mediated endocytosis by hierarchical allosteric activation of AP2.88
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
191294432009A basic patch on alpha-adaptin is required for binding of human immunodeficiency virus type 1 Nef and cooperative assembly of a CD4-Nef-AP-2 complex.37
193592432009HM1.24 is internalized from lipid rafts by clathrin-mediated endocytosis through interaction with alpha-adaptin.95
191294432009A basic patch on alpha-adaptin is required for binding of human immunodeficiency virus type 1 Nef and cooperative assembly of a CD4-Nef-AP-2 complex.37
193592432009HM1.24 is internalized from lipid rafts by clathrin-mediated endocytosis through interaction with alpha-adaptin.95
145302742003The AP-2 complex is excluded from the dynamic population of plasma membrane-associated clathrin.29

Citation

Dessen P

AP2A2 (adaptor related protein complex 2 subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54130/gene-explorer/tumors-explorer/css/card-gene.css