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Aliases for AP2B1 Gene

Aliases for AP2B1 Gene

  • Adaptor-Related Protein Complex 2, Beta 1 Subunit 2 3
  • CLAPB1 3 4 6
  • ADTB2 3 4 6
  • Clathrin Assembly Protein Complex 2 Beta Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Beta Subunit 3 4
  • Adaptor-Related Protein Complex 2 Subunit Beta 3 4
  • Adaptor Protein Complex AP-2 Subunit Beta 3 4
  • Beta-2-Adaptin 3 4
  • Beta-Adaptin 3 4
  • AP105B 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Large, Beta 1 3
  • Adapter-Related Protein Complex 2 Beta Subunit 3
  • Adapter-Related Protein Complex 2 Subunit Beta 3
  • AP-2 Complex Subunit Beta 3
  • Adaptin, Beta 2 (Beta) 3
  • AP2-BETA 3

External Ids for AP2B1 Gene

Previous HGNC Symbols for AP2B1 Gene

  • ADTB2
  • CLAPB1

Previous GeneCards Identifiers for AP2B1 Gene

  • GC17P033684
  • GC17P035950
  • GC17P033762
  • GC17P034059
  • GC17P030938
  • GC17P033914
  • GC17P030099

Summaries for AP2B1 Gene

Entrez Gene Summary for AP2B1 Gene

  • The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for AP2B1 Gene

AP2B1 (Adaptor-Related Protein Complex 2, Beta 1 Subunit) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include protein complex binding and clathrin binding. An important paralog of this gene is AP1B1.

UniProtKB/Swiss-Prot for AP2B1 Gene

  • Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.

Gene Wiki entry for AP2B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP2B1 Gene

Genomics for AP2B1 Gene

Regulatory Elements for AP2B1 Gene

Genomic Location for AP2B1 Gene

Start:
35,578,046 bp from pter
End:
35,726,417 bp from pter
Size:
148,372 bases
Orientation:
Plus strand

Genomic View for AP2B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2B1 Gene

Proteins for AP2B1 Gene

  • Protein details for AP2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63010-AP2B1_HUMAN
    Recommended name:
    AP-2 complex subunit beta
    Protein Accession:
    P63010
    Secondary Accessions:
    • A6NJP3
    • P21851
    • Q7Z451
    • Q96J19

    Protein attributes for AP2B1 Gene

    Size:
    937 amino acids
    Molecular mass:
    104553 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with EPN1. Interacts with EPS15; clathrin competes with EPS15. Interacts with SNAP91; clathrin competes with SNAP91. Interacts with CLTC; clathrin competes with EPS15, SNAP91 and PIP5K1C. Interacts with LDLRAP1. Interacts with AMPH and BIN1. Interacts with ARF6 (GDP-bound). Interacts (dephosphorylated at Tyr-737) with ARRB1; phosphorylation of AP2B1 at Tyr-737 disrupts the interaction. Interacts with SLC2A8. Interacts with SCYL1 and SCYL2. Interacts with TGFBR1 and TGFBR2. Interacts with PIP5K1C; clathrin competes with PIP5K1C (By similarity). Interacts with DENND1B, but not with DENND1A, nor DENND1C. Interacts with FCHO1.

    Three dimensional structures from OCA and Proteopedia for AP2B1 Gene

    Alternative splice isoforms for AP2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2B1 Gene

Proteomics data for AP2B1 Gene at MOPED

Post-translational modifications for AP2B1 Gene

  • Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs).
  • Ubiquitination at Lys12, Lys538, and Lys917
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP2B1 Gene

Domains for AP2B1 Gene

Graphical View of Domain Structure for InterPro Entry

P63010

UniProtKB/Swiss-Prot:

AP2B1_HUMAN :
  • P63010
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP2B1: view

No data available for Gene Families for AP2B1 Gene

Function for AP2B1 Gene

Molecular function for AP2B1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly.

Gene Ontology (GO) - Molecular Function for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005048 signal sequence binding TAS 12121421
GO:0005488 binding --
GO:0005515 protein binding IPI 12221107
GO:0008565 protein transporter activity IEA --
GO:0030276 clathrin binding TAS 12121421
genes like me logo Genes that share ontologies with AP2B1: view
genes like me logo Genes that share phenotypes with AP2B1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AP2B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AP2B1 Gene

Localization for AP2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2B1 Gene

Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP2B1 Gene COMPARTMENTS Subcellular localization image for AP2B1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 coated pit --
GO:0016020 membrane IDA 19946888
GO:0030117 membrane coat --
genes like me logo Genes that share ontologies with AP2B1: view

Pathways for AP2B1 Gene

genes like me logo Genes that share pathways with AP2B1: view

Gene Ontology (GO) - Biological Process for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007268 synaptic transmission TAS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with AP2B1: view

Compounds for AP2B1 Gene

(2) Novoseek inferred chemical compound relationships for AP2B1 Gene

Compound -log(P) Hits PubMed IDs
phenylalanine 33.7 1
tyrosine 23.3 1
genes like me logo Genes that share compounds with AP2B1: view

Transcripts for AP2B1 Gene

Unigene Clusters for AP2B1 Gene

Adaptor-related protein complex 2, beta 1 subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AP2B1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP2B1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ·
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6: - - -
SP7: -
SP8:
SP9:

ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for AP2B1 Gene

GeneLoc Exon Structure for
AP2B1
ECgene alternative splicing isoforms for
AP2B1

Expression for AP2B1 Gene

mRNA expression in normal human tissues for AP2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for AP2B1 Gene

This gene is overexpressed in Brain (11.8) and Frontal cortex (10.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for AP2B1 Gene

SOURCE GeneReport for Unigene cluster for AP2B1 Gene Hs.514819

genes like me logo Genes that share expressions with AP2B1: view

Expression partners for AP2B1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP2B1 Gene

Orthologs for AP2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP2B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP2B1 35
  • 94.36 (n)
  • 99.89 (a)
AP2B1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP2B1 35
  • 94.6 (n)
  • 100 (a)
AP2B1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP2B1 35
  • 99.68 (n)
  • 100 (a)
AP2B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2b1 35
  • 92.6 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Ap2b1 16
Ap2b1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP2B1 36
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2B1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP2B1 35
  • 83.07 (n)
  • 98.95 (a)
AP2B1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2b1 35
  • 80.51 (n)
  • 96.95 (a)
MGC75877 35
African clawed frog
(Xenopus laevis)
Amphibia ap2b1-prov 35
zebrafish
(Danio rerio)
Actinopterygii ap2b1 35
  • 79.64 (n)
  • 94.53 (a)
ap2b1 36
  • 95 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bap 37
  • 71 (a)
Bap 36
  • 74 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apb-1 36
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 36
  • 36 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.5414 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 73 (a)
ManyToMany
CSA.9795 36
  • 54 (a)
ManyToMany
Species with no ortholog for AP2B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP2B1 Gene

ENSEMBL:
Gene Tree for AP2B1 (if available)
TreeFam:
Gene Tree for AP2B1 (if available)

Paralogs for AP2B1 Gene

Paralogs for AP2B1 Gene

Pseudogenes.org Pseudogenes for AP2B1 Gene

genes like me logo Genes that share paralogs with AP2B1: view

Variants for AP2B1 Gene

Sequence variations from dbSNP and Humsavar for AP2B1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3506 -- 35,660,015(-) TTTGC(A/G)TAAGA intron-variant, utr-variant-3-prime
rs9649 -- 35,723,915(+) CCCAC(C/T)TCTTG utr-variant-3-prime
rs14617 -- 35,726,377(+) TTGAC(C/T)TTGTG utr-variant-3-prime
rs161182 -- 35,592,773(-) TTGAG(A/G)TCAGG intron-variant
rs161183 -- 35,592,456(-) TGGAT(C/G)GCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP2B1 Gene

Variant ID Type Subtype PubMed ID
nsv908079 CNV Loss 21882294
nsv2038 CNV Insertion 18451855
esv2647158 CNV Deletion 19546169
nsv908080 CNV Loss 21882294
nsv438273 CNV Loss 16468122
dgv52n17 CNV Loss 16327808

Relevant External Links for AP2B1 Gene

HapMap Linkage Disequilibrium report
AP2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP2B1 Gene

Disorders for AP2B1 Gene

(3) Novoseek inferred disease relationships for AP2B1 Gene

Disease -log(P) Hits PubMed IDs
cerebellar degeneration 62.5 1
ataxia telangiectasia 59.8 1
carcinoma 0 1

Relevant External Links for AP2B1

Genetic Association Database (GAD)
AP2B1
genes like me logo Genes that share disorders with AP2B1: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for AP2B1 Gene

Publications for AP2B1 Gene

  1. Conservation and diversity in families of coated vesicle adaptins. (PMID: 1969413) Ponnambalam S. … Parham P. (J. Biol. Chem. 1990) 3 4 23
  2. The structure and function of the beta 2-adaptin appendage domain. (PMID: 10944104) Owen D.J. … Evans P.R. (EMBO J. 2000) 3 4 23
  3. The AP-2 complex is excluded from the dynamic population of plasma membrane-associated clathrin. (PMID: 14530274) Rappoport J.Z. … Simon S.M. (J. Biol. Chem. 2003) 3 4 23
  4. beta-Arrestin/AP-2 interaction in G protein-coupled receptor internalization: identification of a beta-arrestin binding site in beta 2-adaptin. (PMID: 11777907) Laporte S.A. … Caron M.G. (J. Biol. Chem. 2002) 3 4 23
  5. The beta2-adaptin clathrin adaptor interacts with the mitotic checkpoint kinase BubR1. (PMID: 12419313) Cayrol C. … Wright M. (Biochem. Biophys. Res. Commun. 2002) 3 23

Products for AP2B1 Gene

Sources for AP2B1 Gene

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