AP2B1 (adaptor related protein complex 2 subunit beta 1)

2009-11-01 Affiliation

Identity

HGNC

AP2B1

LOCATION

17q12

LOCUSID

163

ALIAS

ADTB2,AP105B,AP2-BETA,CLAPB1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000006125	ENST00000587805	K7EMN7
ENSG00000006125	ENST00000588116	K7EJ01
ENSG00000006125	ENST00000589774	K7ERB2
ENSG00000006125	ENST00000590432	K7EJX1
ENSG00000006125	ENST00000590538	K7EKZ5
ENSG00000006125	ENST00000591610	K7EKZ5
ENSG00000006125	ENST00000592167	K7EKZ5
ENSG00000006125	ENST00000593014	K7EN71
ENSG00000006125	ENST00000610402	P63010
ENSG00000006125	ENST00000610402	A0A140VJE8
ENSG00000006125	ENST00000612035	A0A087WZQ6
ENSG00000006125	ENST00000612116	A0A087WZQ6
ENSG00000006125	ENST00000614600	A0A087WZQ6
ENSG00000006125	ENST00000616681	A0A087X253
ENSG00000006125	ENST00000616784	A0A087WU93
ENSG00000006125	ENST00000618940	P63010
ENSG00000006125	ENST00000618940	A0A140VJE8
ENSG00000006125	ENST00000620039	A0A087WXS3
ENSG00000006125	ENST00000621668	A0A087WYD1
ENSG00000006125	ENST00000621914	P63010
ENSG00000006125	ENST00000628168	K7EKZ5

Expression (GTEx)

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

Pathway	Source	External ID
Huntington's disease	KEGG	ko05016
Huntington's disease	KEGG	hsa05016
Endocytosis	KEGG	ko04144
Endocytosis	KEGG	hsa04144
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity	REACTOME	R-HSA-399721
Trafficking of AMPA receptors	REACTOME	R-HSA-399719
Trafficking of GluR2-containing AMPA receptors	REACTOME	R-HSA-416993
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
Host Interactions of HIV factors	REACTOME	R-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesis	REACTOME	R-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	REACTOME	R-HSA-164938
Nef Mediated CD4 Down-regulation	REACTOME	R-HSA-167590
Nef Mediated CD8 Down-regulation	REACTOME	R-HSA-182218
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Signal Transduction	REACTOME	R-HSA-162582
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Retrograde neurotrophin signalling	REACTOME	R-HSA-177504
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
PCP/CE pathway	REACTOME	R-HSA-4086400
WNT5A-dependent internalization of FZD4	REACTOME	R-HSA-5099900
WNT5A-dependent internalization of FZD2, FZD5 and ROR2	REACTOME	R-HSA-5140745
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
LDL-mediated lipid transport	REACTOME	R-HSA-171052
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
Recycling pathway of L1	REACTOME	R-HSA-437239
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPH-ephrin mediated repulsion of cells	REACTOME	R-HSA-3928665
VLDL interactions	REACTOME	R-HSA-8855121
VLDLR internalisation and degradation	REACTOME	R-HSA-8866427
Clathrin-mediated endocytosis	REACTOME	R-HSA-8856828
Cargo recognition for clathrin-mediated endocytosis	REACTOME	R-HSA-8856825

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38093640	2024	Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.	0
38093640	2024	Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.	0
36901413	2023	Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.	0
37977651	2023	Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.	1
36901413	2023	Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.	0
37977651	2023	Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.	1
30026878	2018	AP-2β inhibits hepatocellular carcinoma invasion and metastasis through Slug and Snail to suppress epithelial-mesenchymal transition.	17
30411541	2018	Associations 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
30026878	2018	AP-2β inhibits hepatocellular carcinoma invasion and metastasis through Slug and Snail to suppress epithelial-mesenchymal transition.	17
30411541	2018	Associations 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
25061211	2014	Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch.	116
25061211	2014	Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch.	116
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
19903820	2010	Molecular 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/teaching-explorer/gene-fusions/img/logo-atlas-4.svg