AP2B1 (adaptor related protein complex 2 subunit beta 1)

2009-11-01  

Identity

HGNC
AP2B1
LOCATION
17q12
LOCUSID
163
ALIAS
ADTB2,AP105B,AP2-BETA,CLAPB1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163
MIM: 601025
HGNC: 563
Ensembl: ENSG00000006125

Variants:

dbSNP: 163
ClinVar: 163
TCGA: ENSG00000006125
COSMIC: AP2B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006125ENST00000587805K7EMN7
ENSG00000006125ENST00000588116K7EJ01
ENSG00000006125ENST00000589774K7ERB2
ENSG00000006125ENST00000590432K7EJX1
ENSG00000006125ENST00000590538K7EKZ5
ENSG00000006125ENST00000591610K7EKZ5
ENSG00000006125ENST00000592167K7EKZ5
ENSG00000006125ENST00000593014K7EN71
ENSG00000006125ENST00000610402P63010
ENSG00000006125ENST00000610402A0A140VJE8
ENSG00000006125ENST00000612035A0A087WZQ6
ENSG00000006125ENST00000612116A0A087WZQ6
ENSG00000006125ENST00000614600A0A087WZQ6
ENSG00000006125ENST00000616681A0A087X253
ENSG00000006125ENST00000616784A0A087WU93
ENSG00000006125ENST00000618940P63010
ENSG00000006125ENST00000618940A0A140VJE8
ENSG00000006125ENST00000620039A0A087WXS3
ENSG00000006125ENST00000621668A0A087WYD1
ENSG00000006125ENST00000621914P63010
ENSG00000006125ENST00000628168K7EKZ5

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
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

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
380936402024Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.0
380936402024Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.0
369014132023Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.0
379776512023Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.1
369014132023Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.0
379776512023Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.1
300268782018AP-2β inhibits hepatocellular carcinoma invasion and metastasis through Slug and Snail to suppress epithelial-mesenchymal transition.17
304115412018Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate.5
300268782018AP-2β inhibits hepatocellular carcinoma invasion and metastasis through Slug and Snail to suppress epithelial-mesenchymal transition.17
304115412018Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate.5
250612112014Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch.116
250612112014Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch.116
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
199038202010Molecular basis for association of PIPKI gamma-p90 with clathrin adaptor AP-2.13

Citation

Dessen P

AP2B1 (adaptor related protein complex 2 subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51236/gene-explorer/favicon/js/lib/zoomerang.js