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Aliases for AP2B1 Gene

Aliases for AP2B1 Gene

  • Adaptor Related Protein Complex 2 Beta 1 Subunit 2 3
  • 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, Beta 1 Subunit 2 3
  • Adaptor Related Protein Complex 2, Beta 1 Subunit 3 5
  • 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
  • CLAPB1 3 4
  • AP105B 3 4
  • ADTB2 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
  • Testicular Tissue Protein Li 22 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. Diseases associated with AP2B1 include Ataxia-Telangiectasia. Among its related pathways are CTLA4 Signaling and Trafficking of AMPA receptors. GO annotations related to this gene include 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

Enhancers for AP2B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AP2B1 on UCSC Golden Path with GeneCards custom track

Promoters for AP2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP2B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP2B1 Gene

Chromosome:
17
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

Genes around AP2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 538 and Lys 917
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP2B1 Gene

Domains & Families for AP2B1 Gene

Graphical View of Domain Structure for InterPro Entry

P63010

UniProtKB/Swiss-Prot:

AP2B1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
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:0005488 binding IEA --
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

  • Taconic Biosciences Mouse Models for AP2B1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
cytosol 5
endosome 5
golgi apparatus 5
plasma membrane 5
lysosome 4
vacuole 4

Gene Ontology (GO) - Cellular Components for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030118 clathrin coat IEA --
GO:0030131 clathrin adaptor complex IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with AP2B1: view

Pathways & Interactions for AP2B1 Gene

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

SIGNOR curated interactions for AP2B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for AP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003281 ventricular septum development IEA --
GO:0006886 intracellular protein transport IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with AP2B1: view

Drugs & Compounds for AP2B1 Gene

(2) Drugs for AP2B1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 from HIPED for AP2B1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AP2B1: view

Protein tissue co-expression partners for AP2B1 Gene

- Elite partner

Primer 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)
oppossum
(Monodelphis domestica)
Mammalia AP2B1 36
  • 38 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2b1 36
  • 100 (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
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

Variation tolerance for AP2B1 Gene

Residual Variation Intolerance Score: 4.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.14% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for AP2B1 Gene

Disorders for AP2B1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AP2B1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • ataxia telangiectasia
- elite association - COSMIC cancer census association via MalaCards
Search AP2B1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP2B1

Genetic Association Database (GAD)
AP2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP2B1
genes like me logo Genes that share disorders with AP2B1: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. Molecular basis for association of PIPKI gamma-p90 with clathrin adaptor AP-2. (PMID: 19903820) Kahlfeldt N. … Haucke V. (J. Biol. Chem. 2010) 3 23
  3. Molecular and functional characterization of clathrin- and AP-2-binding determinants within a disordered domain of auxilin. (PMID: 12732633) Scheele U. … Ungewickell E. (J. Biol. Chem. 2003) 3 23
  4. 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 23
  5. 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 23

Products for AP2B1 Gene

Sources for AP2B1 Gene

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