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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AP2B1 Gene

protein-coding   GIFtS: 61
GCID: GC17P033914

adaptor-related protein complex 2, beta 1 subunit


(Previous symbols: ADTB2, CLAPB1)
 Explore 15 diseases affiliated with
AP2B1 via our new
 Human Malady Compendium 
Biological research products
for AP2B1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adaptor-Related Protein Complex 2, Beta 1 Subunit1 2     AP2-BETA2
ADTB21 2 3 5     Adaptin, Beta 2 (Beta)2
CLAPB11 2 3 5     AP-2 Complex Subunit Beta2
Adapter-Related Protein Complex 2 Beta Subunit2 3     Beta-2-Adaptin1
Adaptor Protein Complex AP-2 Subunit Beta2 3     Beta-Adaptin1
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-Adaptin1
AP105B2 3     Beta-Adaptin1

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AP2B1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010799.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP2B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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
6/8 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 Q96J19
Alternative splicing: 2 isoforms:  P63010-1   P63010-2   

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

Post-translational modifications:

  • Phosphorylation at Tyr-737 by SRC occurs at the plasma membrane in clathrin-coated vesicles (CCVs)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P63010

  • AP2B1 Protein expression data from MOPED and PaxDb:    About this image 
    AP2B1 Protein Expression
    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
    Human Recombinant Protein Products for AP2B1: 
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    Novus Biologicals AP2B1 Proteins
    Novus Biologicals AP2B1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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:0030131clathrin adaptor complex IEA--

    AP2B1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AP2B1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR008152 Clathrin_a/b/g-adaptin_app_Ig
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR013037 Clathrin_b-adaptin_app_Ig-like
     IPR015151 B-adaptin_app_sub_C

    Graphical View of Domain Structure for InterPro Entry P63010

    ProtoNet protein and cluster: P63010

    5 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap2b1):
     craniofacial  digestive/alimentary 

    AP2B1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AP2B1 

    miRNA
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    8/64 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2B1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    Recycling pathway of L10.15
    Developmental Biology0.69
    Signal transduction by L10.12
    L1CAM interactions0.39
    2Transport of MHC II:Ii complex along Golgi to TGN
    Internalization of MHC II:Ii clathrin coated vesicle0.52
    EGFR downregulation0.00
    Endocytic Trafficking of EGFR0.00
    Retrograde neurotrophin signalling0.00
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.00
    3Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    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
    4Degradation of CD4
    Degradation of CD41.00
    Degradation of CD80.75
    Nef Mediated CD4 Down-regulation0.78
    Nef Mediated CD8 Down-regulation0.75
    5Signaling by FGFR
    Signaling by EGFR0.84
    NGF signalling via TRKA from the plasma membrane0.70
    Signaling by EGFR in Cancer0.83
    Signalling by NGF0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for AP2B1
        Clathrin-dependent protein traffic
    Development Angiotensin signaling via beta-Arrestin

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/31        Reactome Pathways for AP2B1 (see all 31)
        L1CAM interactions
    Developmental Biology
    Internalization of MHC II:Ii clathrin coated vesicle
    Transmission across Chemical Synapses
    Signaling by EGFR in Cancer


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


    AP2B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AP2B1

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

    5/195 Interacting proteins for AP2B1 (P630101, 2, 3 ENSP000003144144) via UniProtKB, MINT, STRING, and/or I2D (see all 195)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP1M2Q9Y6Q52, 3, ENSP000002502444MINT-68428 I2D: score=5 STRING: ENSP00000250244
    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
    TUBGCP4Q9UGJ12, 3, ENSP000002603834MINT-66991 I2D: score=4 STRING: ENSP00000260383
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion ----
    GO:0007411axon guidance TAS--

    AP2B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AP2B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AP2B1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AP2B1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    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
    18/19 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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    Inhib. RNA
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    Additional cDNA sequence: 

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

    24/43 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.95251367  DT.101982283  DT.120915348  DT.95171592  DT.97855408  DT.100640903 

    24/680 AceView cDNA sequences (see all 680):

    AW274728 AL043636 AU280302 BX643620 NM_001282 AL044658 AW339005 AL041575 
    T82257 BU167910 CB215820 F05826 BF772812 BQ422647 BU625217 BG493230 
    CA446618 BP336619 BM473368 BP347590 BP345547 AL042042 BC006201 BP364295 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AP2B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTCTTCAC
    AP2B1 Expression
    About this image
    See AP2B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP2B1

    SOURCE GeneReport for Unigene cluster: Hs.514819
        SABiosciences Custom PCR Arrays for AP2B1

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    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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2B1 gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AP2B11 adaptor-related protein complex 2, beta 1 subunit 83.07(n)
    98.95(a)
      417525  XM_415772.3  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
    64(a)
    1 → many
    III(2583965-2597027)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G234606
    AT4G113806
    beta-adaptin-like protein B
    59(a)
    57(a)
    many ↔ many
    many ↔ many
    4(12243671-12248950)
    4(6920489-6925969)
    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
    Paralogs for AP2B1 gene
    AP4B12  AP1B12  
    5 SIMAP similar genes for AP2B1 using alignment to 13 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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2308 NCBI SNPs in AP2B1 are shown (see all 2308    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113453481,2
    C--30148776(+) AAACA-/TTAAAA 1 -- int13Minor allele frequency- T:0.00NA CSA 10
    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--------
    rs129517031,2
    C,F--33913054(+) acctcC/Atggga 2 -- us2k1 tfbs35Minor allele frequency- A:0.06NA WA 244
    rs99027651,2
    C,F,A,H--33913143(+) TTTTCA/GGTAGA 2 -- us2k17Minor allele frequency- G:0.17NA CSA EA 250

    HapMap Linkage Disequilibrium report for AP2B1 (33905065 - 34053436 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for AP2B1
         3 CNVs: 102445 1963 35449
         3 Indels: 10709 88431 10710

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    (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

    AP2B1 for disorders           About GeneDecksing

    OMIM gene information: 601025    OMIM disorders: --

    15 diseases for AP2B1:    About MalaCards
    cerebellar degeneration    ataxia telangiectasia    ataxia    huntington's disease
    hypercholesterolemia    rhabdomyosarcoma    alzheimer's disease    adenoma
    cholesterol    immunodeficiency    adenocarcinoma    malaria
    neuronitis    pancreatic cancer    pancreatitis

    3 Novoseek 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)


    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)
    About This Section

    PubMed articles for AP2B1 gene, integrated from 9 sources (see all 124):
    (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. (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. (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. (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. (2003)
    5. 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. (2006)
    6. 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. (2004)
    7. Molecular architecture and functional model of the endocytic AP2 complex. (PubMed id 12086608)1, 2 Collins B.M.... Owen D.J. (2002)
    8. Transforming growth factor-beta receptors interact with AP2 by direct binding to beta2 subunit. (PubMed id 12429842)1, 2 Yao D.... Leof E.B. (2002)
    9. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. (PubMed id 8595912)1, 3 Druck T....Keen J.H. (1995)
    10. The beta 1 and beta 2 subunits of the AP complexes are the clathrin coat assembly components. (PubMed id 8262066)1, 3 Gallusser A. and Kirchhausen T. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 163 HGNC: 563 AceView: AP2B1 Ensembl:ENSG00000006125 euGenes: HUgn163
    ECgene: AP2B1 Kegg: 163 H-InvDB: AP2B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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