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AP2B1 Gene

protein-coding   GIFtS: 63
GCID: GC17P033914

Adaptor-Related Protein Complex 2, Beta 1 Subunit


(Previous symbols: ADTB2, CLAPB1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 2, Beta 1 Subunit1 2     Adapter-Related Protein Complex 2 Beta Subunit2
ADTB21 2 3 5     Adaptin, Beta 2 (Beta)2
CLAPB11 2 3 5     AP-2 Complex Subunit Beta2
Adapter-Related Protein Complex 2 Subunit Beta2 3     beta-2-adaptin2
Adaptor Protein Complex AP-2 Subunit Beta2 3     beta-adaptin2
Clathrin Assembly Protein Complex 2 Beta Large Chain2 3     Clathrin-Associated/Assembly/Adaptor Protein, Large, Beta 12
Plasma Membrane Adaptor HA2/AP2 Adaptin Beta Subunit2 3     Beta-2-adaptin3
AP105B2 3     Beta-adaptin3
AP2-BETA2     

External Ids:    HGNC: 5631   Entrez Gene: 1632   Ensembl: ENSG000000061257   OMIM: 6010255   UniProtKB: P630103   

Export aliases for AP2B1 gene to outside databases

Previous GC identifers: GC17P033684 GC17P035950 GC17P033762 GC17P034059 GC17P030938 GC17P030099


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cerebellar degeneration, and ataxia telangiectasia. GO annotations related to this gene include clathrin binding and protein complex binding. An important paralog of this gene is AP4B1.

UniProtKB/Swiss-Prot: AP2B1_HUMAN, P63010
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 Wiki entry for AP2B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP2B1 gene promoter:
         AREB6   Elk-1   AML1a   Brachyury   ATF-2   AP-2gamma   Cdc5   LCR-F1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP2B1 promoter sequence
   Search Chromatin IP Primers for AP2B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP2B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2-q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q11.2-q12

AP2B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP2B1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P033914:  view genomic region     (about GC identifiers)

Start:
33,905,065 bp from pter      End:
34,053,436 bp from pter
Size:
148,372 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP2B1_HUMAN, P63010 (See protein sequence)
Recommended Name: AP-2 complex subunit beta  
Size: 937 amino acids; 104553 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for AP2B1 (see all 8):
1E42 (3D)        2G30 (3D)        2IV8 (3D)        2IV9 (3D)        2JKR (3D)        2JKT (3D)    
Secondary accessions: A6NJP3 P21851 Q7Z451 Q96J19
Alternative splicing: 3 isoforms:  P63010-1   P63010-2   P63010-3   (Highly expressed in the testis, spleen, thymus, prostate, ovary, blood leukocyte and brain, but not in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Testis expression is restricted to germ cells and is about 3-fold higher in adults than in embryos)

Explore the universe of human proteins at neXtProt for AP2B1: NX_P63010

Explore proteomics data for AP2B1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs)1
  • Ubiquitination2 at Lys12, Lys538, Lys917
  • Modification sites at PhosphoSitePlus

  • See AP2B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001025177.1  NP_001273.1  

    ENSEMBL proteins: 
     ENSP00000468183   ENSP00000262325   ENSP00000468222   ENSP00000465316   ENSP00000468813  
     ENSP00000465848   ENSP00000314414   ENSP00000467883   ENSP00000465357   ENSP00000437413  
     ENSP00000467382   ENSP00000466812   ENSP00000464966   ENSP00000466580   ENSP00000440563  
    Reactome Protein details: P63010

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR013037 Clathrin_b-adaptin_app_Ig-like
     IPR015151 B-adaptin_app_sub_C
     IPR012295 Beta2_adaptin/TBP_C_dom

    Graphical View of Domain Structure for InterPro Entry P63010

    ProtoNet protein and cluster: P63010

    5 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB000357 HEAT repeat
    IPB002553 Adaptin
    IPB003016 2-oxo acid dehydrogenase
    IPB008152 Alpha/gamma adaptin


    UniProtKB/Swiss-Prot: AP2B1_HUMAN, P63010
    Similarity: Belongs to the adaptor complexes large subunit family


    AP2B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP2B1_HUMAN, P63010
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI12221107
    GO:0008565protein transporter activity IEA--
    GO:0030276clathrin binding IPI19509056
    GO:0032403protein complex binding IEA--
         
    AP2B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AP2B1:
     Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ap2b1):
     cardiovascular system  craniofacial  digestive/alimentary  hematopoietic system  immune system 
     skeleton 

    AP2B1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2B1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP2B1

    miRNA
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    miRTarBase miRNAs that target AP2B1:
    hsa-mir-92a-3p (MIRT049362), hsa-mir-106b-5p (MIRT044360), hsa-mir-34a-5p (MIRT025304), hsa-mir-615-3p (MIRT040259), hsa-mir-744-5p (MIRT037404), hsa-mir-99a-5p (MIRT048704), hsa-mir-19b-3p (MIRT050627), hsa-mir-532-3p (MIRT037922), hsa-mir-16-5p (MIRT031985), hsa-mir-877-3p (MIRT037122)

    Block miRNA regulation of human, mouse, rat AP2B1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP2B1 (see all 64):
    hsa-miR-140-5p hsa-miR-3194-5p hsa-miR-106a hsa-miR-3921 hsa-miR-519a hsa-miR-10b* hsa-miR-409-5p hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidAP2B1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP2B1_HUMAN, P63010: 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: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005802trans-Golgi network IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005905coated pit IEA--
    GO:0030117membrane coat ----

    AP2B1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP2B1 About   (see all 22)  
    See pathways by source

    SuperPathContained pathways About
    1Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    Retrograde neurotrophin signalling0.36
    Recycling pathway of L10.33
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    3Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    4Signaling by FGFR
    Signaling by EGFR0.83
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.82
    Signalling by NGF0.71
    5Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef Mediated CD4 Down-regulation0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    Nef Mediated CD8 Down-regulation0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AP2B1
        CTLA4 Signaling
    Endocytic Trafficking of EGFR

    5 GeneGo (Thomson Reuters) Pathways for AP2B1
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Development Angiotensin signaling via beta-Arrestin
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    2 BioSystems Pathways for AP2B1
        TGF-beta Receptor Signaling Pathway
    Synaptic Vesicle Pathway


    Selected Reactome Pathways for AP2B1 (see all 7)
        Recycling pathway of L1
    Retrograde neurotrophin signalling
    WNT5A-dependent internalization of FZD4
    Nef Mediated CD8 Down-regulation
    MHC class II antigen presentation


    4 Kegg Pathways  (Kegg details for AP2B1):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    AP2B1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP2B1
    Interactions:

        GeneGlobe Interaction Network for AP2B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP2B1 (P630101, 2, 3 ENSP000003144144) via UniProtKB, MINT, STRING, and/or I2D (see all 235)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP1M2Q9Y6Q52, 3, ENSP000002502444MINT-68428 I2D: score=5 STRING: ENSP00000250244
    DHX58Q96C102, 3, ENSP000002516424MINT-66465 I2D: score=5 STRING: ENSP00000251642
    MLH1P406922, 3, ENSP000002317904MINT-66474 I2D: score=5 STRING: ENSP00000231790
    NUP54Q7Z3B42, 3, ENSP000002648834MINT-67650 I2D: score=5 STRING: ENSP00000264883
    THAP1Q9NVV92, 3, ENSP000002542504MINT-67315 I2D: score=5 STRING: ENSP00000254250
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006897endocytosis IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--

    AP2B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for AP2B1

    2 Novoseek inferred chemical compound relationships for AP2B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylalanine 33.7 1 10807927 (1)
    tyrosine 23.3 1 10549596 (1)



    AP2B1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AP2B1 gene (2 alternative transcripts): 
    NM_001030006.1  NM_001282.2  

    Unigene Cluster for AP2B1:

    Adaptor-related protein complex 2, beta 1 subunit
    Hs.514819  [show with all ESTs]
    Unigene Representative Sequence: NM_001030006
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000589774 ENST00000262325(uc002hjr.3 uc002hjs.3) ENST00000592191
    ENST00000592545 ENST00000590538 ENST00000591610 ENST00000312678(uc002hjq.3 uc010wci.2 uc002hjt.3 uc010ctv.3 uc010wcj.2)
    ENST00000589344 ENST00000590432 ENST00000537622 ENST00000588093 ENST00000592167
    ENST00000593014 ENST00000591561 ENST00000545922 ENST00000588116 ENST00000587805
    ENST00000588493
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    hsa-miR-140-5p hsa-miR-3194-5p hsa-miR-106a hsa-miR-3921 hsa-miR-519a hsa-miR-10b* hsa-miR-409-5p hsa-miR-93
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      QuantiTect SYBR Green Assays in human, mouse, rat AP2B1
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    Additional mRNA sequence: 

    AK289528.1 AK292531.1 AK295667.1 AK301522.1 AK304126.1 AY341427.1 BC006201.2 BC012150.1 
    CR749392.1 M34175.1 

    Selected DOTS entries (see all 43):

    DT.119651  DT.100725197  DT.97855409  DT.101985530  DT.100676037  DT.100676026  DT.100676035  DT.92457625 
    DT.91795398  DT.91902994  DT.92457619  DT.100676033  DT.120915309  DT.120915277  DT.120915349  DT.92375650 
    DT.100676022  DT.87016544  DT.101982283  DT.120915348  DT.95171592  DT.95251367  DT.97855408  DT.100640903 

    Selected AceView cDNA sequences (see all 680):

    BQ216096 AL045727 BM915654 AU150896 BP364593 F05826 AW664002 BM473368 
    AL043637 BQ645431 AL538413 CB129705 AV702416 AL699086 AI738941 CB215820 
    BQ061861 BQ233129 AI798579 BC006201 AA489221 BP365829 BM694209 BM721779 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP2B1 (see all 9)    About this scheme

    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:                                -                 -     -                 -                                                                                 

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


    ECgene alternative splicing isoforms for AP2B1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AP2B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCTTCAC
    AP2B1 Expression
    About this image


    AP2B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
    AP2B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP2B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514819
        Custom PCR Arrays for AP2B1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AP2B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP2B1
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    QuantiFast Probe-based Assays in human, mouse, rat AP2B1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2B1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap2b15 adaptor-related protein complex 2, beta 1 subunit   --   11 (50.30 cM) 83299024 
    chicken
    (Gallus gallus)
    Aves AP2B11 adaptor-related protein complex 2, beta 1 subunit 83.07(n)
    98.95(a)
      417525  XM_415772.4  XP_415772.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia ap2b1-prov2 adaptor-related protein complex 2, beta 1 subunit 80.06(n)    BC043793.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap2b11 adaptor-related protein complex 2, beta 1 subunit 79.64(n)
    94.53(a)
      334632  NM_199919.2  NP_956213.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap3 non-selective vesicle coating 71(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea apb-16
    Protein APB-1, isoform c (apb-1) mRNA, complete cd...
    63(a)
    1 → many
    III(2583974-2597034) WBGene00000160
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL2(YKL135C)4 Beta-adaptin, large subunit of the clathrin-associated more   --   11(188640-186460) 853723  NP_012787.1 
    rice
    (Oryza sativa)
    Liliopsida Os.54142 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.5(n)    AK068938.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for AP2B1 gene
    AP4B12  AP1B12  
    5 SIMAP similar genes for AP2B1 using alignment to 12 protein entries:     AP2B1_HUMAN (see all proteins):
    DKFZp781K0743    AP1B1    DKFZp686A01208    AP3B2    AP4B1

    AP2B1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AP2B1
    PGOHUM00000244825 PGOHUM00000261807


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for AP2B1 (see all 2721)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106680401,2
    C--30160909(+) AATAA-/GT/GTGT
    /GTGTGTGT
    gtgtg
    2 -- int10--------
    rs3216181,2
    C,F,H--33912404(-) TATTAT/CGATTT 2 -- us2k1 tfbs320Minor allele frequency- C:0.44NS EA NA WA 2346
    rs1888309351,2
    --33912542(+) GTCCAC/TACTTT 2 -- us2k10--------
    rs1402755811,2
    --33912598(+) ATGCTA/GTATTT 2 -- us2k10--------
    rs1499435961,2
    --33912694(+) AACATG/TTGTAA 2 -- us2k10--------
    rs1479010991,2
    --33912704(+) ATCAGC/TACCCA 2 -- us2k10--------
    rs1416583901,2
    --33912831(+) GCACAA/TCCCAA 2 -- us2k10--------
    rs1470236441,2
    --33912832(+) CACATC/GCCAAC 2 -- us2k10--------
    rs3676948981,2
    C--33912977(+) TTTTTC/TTTTTG 2 -- us2k10--------
    rs129517031,2
    C,F--33913054(+) acctcC/Atggga 2 -- us2k1 tfbs35Minor allele frequency- A:0.06NA WA 244

    HapMap Linkage Disequilibrium report for AP2B1 (33905065 - 34053436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AP2B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2647158CNV Deletion19546169
    nsv2038CNV Insertion18451855
    nsv908079CNV Loss21882294
    dgv52n17CNV Loss16327808
    nsv438273CNV Loss16468122
    nsv908080CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP2B1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP2B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601025    OMIM disorders: --

    18 diseases for AP2B1:    
    About MalaCards
    cerebellar degeneration    ataxia telangiectasia    hypercholesterolemia    ataxia
    rhabdomyosarcoma    huntington's disease    hiv-1    adenoma
    pancreatic cancer    tonsillitis    pancreatitis    endotheliitis
    alzheimer's disease    adenocarcinoma    cerebritis    thyroiditis
    neuronitis    prostatitis


    AP2B1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for AP2B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar degeneration 62.5 1 7671305 (1)
    ataxia telangiectasia 59.8 1 9707615 (1)
    carcinoma 0 1 11429425 (1)

    Genetic Association Database (GAD): AP2B1

    Export disorders for AP2B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP2B1 gene, integrated from 10 sources (see all 137):
    (articles sorted by number of sources associating them with AP2B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Conservation and diversity in families of coated vesicle adaptins. (PubMed id 1969413)1, 2, 9 Ponnambalam S.... Parham P. (J. Biol. Chem. 1990)
    2. beta-Arrestin/AP-2 interaction in G protein-coupled receptor internalization: identification of a beta-arrestin binding site in beta 2-adaptin. (PubMed id 11777907)1, 2, 9 Laporte S.A.... Caron M.G. (J. Biol. Chem. 2002)
    3. The structure and function of the beta 2-adaptin appendage domain. (PubMed id 10944104)1, 2, 9 Owen D.J.... Evans P.R. (EMBO J. 2000)
    4. The AP-2 complex is excluded from the dynamic population of plasma membrane-associated clathrin. (PubMed id 14530274)1, 2, 9 Rappoport J.Z.... Simon S.M. (J. Biol. Chem. 2003)
    5. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    6. Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly. (PubMed id 16903783)1, 2 Schmid E.M.... McMahon H.T. (PLoS Biol. 2006)
    7. Expression of a novel beta adaptin subunit mRNA splice variant in human testes. (PubMed id 15897975)1, 2 Zhang X.D.... Sha J.H. (Asian J. Androl. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Transforming growth factor-beta receptors interact with AP2 by direct binding to beta2 subunit. (PubMed id 12429842)1, 2 Yao D.... Leof E.B. (Mol. Biol. Cell 2002)
    10. Molecular architecture and functional model of the endocytic AP2 complex. (PubMed id 12086608)1, 2 Collins B.M.... Owen D.J. (Cell 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 163 HGNC: 563 AceView: AP2B1 Ensembl:ENSG00000006125 euGenes: HUgn163
    ECgene: AP2B1 Kegg: 163 H-InvDB: AP2B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP2B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AP2B1 gene:
    Search GeneIP for patents involving AP2B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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