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AP2M1 Gene

protein-coding   GIFtS: 68
GCID: GC03P183892

Adaptor-Related Protein Complex 2, Mu 1 Subunit


(Previous symbol: CLAPM1)
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(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, Mu 1 Subunit1 2     Clathrin Adaptor Complex AP21
CLAPM11 2 3 5     Clathrin-Associated/Assembly/Adaptor Protein1
HA2 50 KDa Subunit1 2 3     Medium 11
AP-2 Mu 2 Chain1 2     Mu Subunit1
Clathrin Assembly Protein Complex 2 Medium Chain1 2     AP502
Clathrin Coat Adaptor Protein AP501 2     Adapter-Related Protein Complex 2 Mu Subunit2
Plasma Membrane Adaptor AP-2 50kDA Protein1 2     adaptin-mu22
Adapter-Related Protein Complex 2 Subunit Mu2 3     AP-2 Complex Subunit Mu2
Adaptor Protein Complex AP-2 Subunit Mu2 3     Clathrin Adaptor Complex AP2, Mu Subunit2
Clathrin Assembly Protein Complex 2 Mu Medium Chain2 3     Clathrin-Associated/Assembly/Adaptor Protein, Medium 12
Clathrin Coat Assembly Protein AP502 3     mu22
Clathrin Coat-Associated Protein AP502 3     Adaptin-mu23
Plasma Membrane Adaptor AP-2 50 KDa Protein2 3     KIAA01093
AP-2 Mu Chain2 3     

External Ids:    HGNC: 5641   Entrez Gene: 11732   Ensembl: ENSG000001612037   OMIM: 6010245   UniProtKB: Q96CW13   

Export aliases for AP2M1 gene to outside databases

Previous GC identifers: GC03M180722 GC03P184887 GC03P185294 GC03P185213 GC03P185375 GC03P181299


(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 AP2M1 Gene:
This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the
adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase,
which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded
protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4
protein. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for AP2M1 Gene:
AP2M1 (adaptor-related protein complex 2, mu 1 subunit) is a protein-coding gene. GO annotations related to this gene include lipid binding and transporter activity. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot: AP2M1_HUMAN, Q96CW1
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 mu subunit binds to transmembrane cargo
proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is
inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation
of AP-2 mu subunit at 'Tyr-156' in membrane-associated AP-2. The membrane-specific phosphorylation event appears
to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in
endocytosis of frizzled family members upon Wnt signaling (By similarity)

Gene Wiki entry for AP2M1 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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP2M1 gene promoter:
         E2F-3a   E2F-4   E2F-5   Lmo2   E2F-2   NF-kappaB   E2F   E2F-1   Sox9   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP2M1 promoter sequence
   Search Chromatin IP Primers for AP2M1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP2M1


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

Entrez Gene cytogenetic band: 3q28   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q28

AP2M1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP2M1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P183892:  view genomic region     (about GC identifiers)

Start:
183,892,477 bp from pter      End:
183,901,879 bp from pter
Size:
9,403 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: AP2M1_HUMAN, Q96CW1 (See protein sequence)
Recommended Name: AP-2 complex subunit mu  
Size: 435 amino acids; 49655 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 ATP6V1H and MEGF10. Interacts with EGFR. Interacts with F2R. Interacts
with PIP5K1C; tyrosine phosphorylation of PIP5K1C weakens the interaction (By similarity). Interacts with
KIAA0319; required for clathrin-mediated endocytosis of KIAA0319. Interacts with DVL2 (via DEP domain) (By
similarity)
Sequence caution: Sequence=BAA09762.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for AP2M1:
1H6E (3D)    
Secondary accessions: A6NE12 D3DNT1 P20172 P53679
Alternative splicing: 2 isoforms:  Q96CW1-1   Q96CW1-2   

Explore the universe of human proteins at neXtProt for AP2M1: NX_Q96CW1

Explore proteomics data for AP2M1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys238, Lys312, Lys378, Lys380, Lys410, Lys420
  • Modification sites at PhosphoSitePlus

  • See AP2M1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001020376.1  NP_004059.2  

    ENSEMBL proteins: 
     ENSP00000371894   ENSP00000402051   ENSP00000403362   ENSP00000292807   ENSP00000402592  
     ENSP00000404031   ENSP00000409081   ENSP00000395438   ENSP00000404326   ENSP00000416688  
    Reactome Protein details: Q96CW1

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    Novus Biologicals AP2M1 Proteins
    Novus Biologicals AP2M1 Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for AP2M1 

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    Search eBioscience for ELISAs for AP2M1 


    (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 6):
     IPR018240 Clathrin_mu_CS
     IPR008968 Clathrin_mu_C
     IPR022775 AP_mu_sigma_su
     IPR011012 Longin-like_dom
     IPR028565 MHD

    Graphical View of Domain Structure for InterPro Entry Q96CW1

    ProtoNet protein and cluster: Q96CW1

    1 Blocks protein domain: IPB001392 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP2M1_HUMAN, Q96CW1
    Similarity: Belongs to the adaptor complexes medium subunit family
    Similarity: Contains 1 MHD (mu homology) domain


    Find genes that share domains with AP2M1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP2M1_HUMAN, Q96CW1
    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 mu subunit binds to transmembrane cargo
    proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is
    inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation
    of AP-2 mu subunit at 'Tyr-156' in membrane-associated AP-2. The membrane-specific phosphorylation event appears
    to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in
    endocytosis of frizzled family members upon Wnt signaling (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7989329
    GO:0005515protein binding IPI12032142
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with AP2M1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for AP2M1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased p24 protein expressi 
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap2m1):
     cellular  mortality/aging 

    Find genes that share phenotypes with AP2M1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ap2m1tm1Ohno for AP2M1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2M1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AP2M1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP2M1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP2M1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AP2M1:
    hsa-mir-224-5p (MIRT003232), hsa-mir-1229-3p (MIRT036371), hsa-mir-34a-5p (MIRT025242), hsa-mir-1226-3p (MIRT036491), hsa-mir-423-3p (MIRT042462), hsa-mir-15b-5p (MIRT046490), hsa-mir-16-5p (MIRT031416), hsa-mir-484 (MIRT041965)

    Block miRNA regulation of human, mouse, rat AP2M1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP2M1 (see all 18):
    hsa-miR-582-3p hsa-miR-892b hsa-miR-193a-3p hsa-miR-342-3p hsa-miR-9 hsa-miR-629 hsa-miR-133a hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidAP2M1 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
    AP2M1_HUMAN, Q96CW1: 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 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    lysosome4
    vacuole4
    mitochondrion2
    nucleus2
    cytoskeleton1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005905coated pit IEA--

    Find genes that share ontologies with AP2M1           About GenesLikeMe


    (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 AP2M1 About   (see all 25)  
    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
    4Nef-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 CD8 Down-regulation0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    Nef mediated downregulation of CD28 cell surface expression0.00
    Nef Mediated CD4 Down-regulation0.00
    5Gap junction trafficking
    Gap junction trafficking0.93
    Formation of annular gap junctions0.00
    Gap junction trafficking and regulation0.93
    Gap junction degradation0.00


    Find genes that share SuperPaths with AP2M1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AP2M1
        CTLA4 Signaling
    Endocytic Trafficking of EGFR

    1 Cell Signaling Technology (CST) Pathway for AP2M1
        Cytoskeletal Signaling

    5 GeneGo (Thomson Reuters) Pathways for AP2M1
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    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
    Cytoskeleton remodeling RalA regulation pathway

    2 BioSystems Pathways for AP2M1
        Synaptic Vesicle Pathway
    Arf1 pathway


    Selected Reactome Pathways for AP2M1 (see all 11)
        Gap junction degradation
    Formation of annular gap junctions
    Retrograde neurotrophin signalling
    WNT5A-dependent internalization of FZD4
    Nef Mediated CD8 Down-regulation


    4 Kegg Pathways  (Kegg details for AP2M1):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP2M1
    Interactions:

        GeneGlobe Interaction Network for AP2M1

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

    Selected Interacting proteins for AP2M1 (Q96CW11, 2, 3 ENSP000002928074) via UniProtKB, MINT, STRING, and/or I2D (see all 421)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RALBP1Q153112, 3, ENSP000000193174MINT-14897 MINT-14899 MINT-14898 I2D: score=3 STRING: ENSP00000019317
    AP2B1P630102, 3, ENSP000003144144MINT-68485 I2D: score=6 STRING: ENSP00000314414
    DVL2O146412, 3, ENSP000000053404MINT-66566 I2D: score=6 STRING: ENSP00000005340
    FXR2P511162, 3, ENSP000002501134MINT-66450 I2D: score=5 STRING: ENSP00000250113
    RTDR1Q9UHP62, 3, ENSP000002160364MINT-67263 I2D: score=5 STRING: ENSP00000216036
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006897endocytosis IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with AP2M1           About GenesLikeMe



    (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 AP2M1

    1 Novoseek inferred chemical compound relationship for AP2M1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 26.7 2 10842319 (1), 17643423 (1)



    Find genes that share compounds with AP2M1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AP2M1 gene (2 alternative transcripts): 
    NM_001025205.1  NM_004068.3  

    Unigene Cluster for AP2M1:

    Adaptor-related protein complex 2, mu 1 subunit
    Hs.518460  [show with all ESTs]
    Unigene Representative Sequence: NM_004068
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000382456(uc003fmw.3 uc021xif.1) ENST00000484469 ENST00000427072
    ENST00000487958 ENST00000411763 ENST00000292807(uc021xig.1) ENST00000448139
    ENST00000466598 ENST00000460862 ENST00000455925 ENST00000439647 ENST00000432591
    ENST00000472560 ENST00000431779 ENST00000490151 ENST00000468048 ENST00000461733(uc011bqy.2 uc011bqz.2)
    ENST00000476434
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    hsa-miR-582-3p hsa-miR-892b hsa-miR-193a-3p hsa-miR-342-3p hsa-miR-9 hsa-miR-629 hsa-miR-133a hsa-miR-330-3p
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    eBioscience FlowRNA Probe Sets ( VA1-12173) for AP2M1 

    Additional mRNA sequence: 

    AK057883.1 AK294159.1 AK295999.1 AK297578.1 AK297849.1 AK300228.1 AK304510.1 AK310409.1 
    BC004996.1 BC013796.1 BC014030.1 BT007308.1 D63475.1 U36188.1 

    Selected DOTS entries (see all 55):

    DT.91981465  DT.87000893  DT.91719552  DT.87004295  DT.100888346  DT.95209159  DT.95218842  DT.100888361 
    DT.120889651  DT.100753385  DT.100888378  DT.101973932  DT.91719730  DT.120889625  DT.95093378  DT.102836769 
    DT.220452  DT.100888357  DT.100888352  DT.100888354  DT.120889633  DT.101985620  DT.100888343  DT.100888353 

    Selected AceView cDNA sequences (see all 1726):

    AW197018 BM773336 BQ026828 BQ214490 AI159873 BF346881 BQ940164 F28418 
    BU191612 BU155447 AA338034 CR592124 BQ894424 BQ019765 BP336638 AL702461 
    CB128626 BQ721214 CR605468 BM455183 BQ672492 BM453246 AU144390 BG770465 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP2M1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a ·
    SP1:                                      -                       -           -     -                       -     -     -                                   -   
    SP2:                                      -     -                 -           -     -                       -     -     -                                       
    SP3:                                      -                       -           -     -     -                 -     -     -                                       
    SP4:                                      -                       -           -     -     -     -     -     -     -     -                 -     -     -     -   
    SP5:                                                              -           -     -                       -     -                                             

    ExUns: 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:  -                       -           -           -         
    SP2:                                                            
    SP3:                                                            
    SP4:  -     -                                                   
    SP5:                                                            


    ECgene alternative splicing isoforms for AP2M1

    (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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    AP2M1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTCATCAA
    AP2M1 Expression
    About this image


    AP2M1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
    AP2M1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP2M1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518460
        Custom PCR Arrays for AP2M1
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2M1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap2m11 , 5 adaptor protein complex AP-2, mu15
    adaptor-related protein complex 2, mu 1 subunit1
    92.64(n)1
    100(a)1
      16 (12.46 cM)5
    117731  NM_009679.21  NP_033809.11 
     205354785 
    chicken
    (Gallus gallus)
    Aves AP2M11 adaptor-related protein complex 2, mu 1 subunit 84.6(n)
    99.54(a)
      770246  NM_001079494.1  NP_001072962.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP2M16
    adaptor-related protein complex 2, mu 1 subunit
    99(a)
    1 ↔ 1
    GL343245.1(1542363-1582464)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC047969.12   -- 83.6(n)    BC047969.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc566432 similar to adaptor-related protein complex 2, mu 1 more 84.2(n)   394001  BC049515.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-501 , 3 non-selective vesicle coating3
    AP-501
    86(a)3
    76.37(n)1
    87.99(a)1
      426421  NM_001170215.21  NP_001163686.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dpy-231 , 3 Expression: neurons, embryo, larva3
    dpy-231
    80(a)3
    71.11(n)1
    82.07(a)1
      X(4424659-4428815)3
    1807131  NM_171670.41  NP_741770.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APM4(YOL062C)4 Mu2-like subunit of the clathrin associated protein more   --   15(211995-210520) 854092  NP_014579.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G466301 AT5G46630 54.85(n)
    50(a)
      834706  NM_124033.3  NP_199475.1 
    rice
    (Oryza sativa)
    Liliopsida Os.89292 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.05(n)    AK102342.1 


    ENSEMBL Gene Tree for AP2M1 (if available)
    TreeFam Gene Tree for AP2M1 (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 AP2M1 gene
    AP3M12  AP4M12  AP1M22  AP3M22  AP1M12  
    5 SIMAP similar genes for AP2M1 using alignment to 8 protein entries:     AP2M1_HUMAN (see all proteins):
    AP1M2    AP1M1    AP4M1    AP3M2    AP3M1

    Find genes that share paralogs with AP2M1           About GenesLikeMe



    (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 AP2M1 (see all 285)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49124791,2
    C--183891887(+) GTCTTC/ATAAGC 2 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1151190531,2
    C,F--183891927(+) CACAGT/CCGCAT 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1165892791,2
    F--183892015(+) TTATTT/CGTGAA 2 -- us2k11Minor allele frequency- C:0.02WA 118
    rs49124801,2
    C,H--183892077(+) TGGGTC/TTTGAT 2 -- us2k15Minor allele frequency- T:0.00EA NS NA 302
    rs1844858571,2
    --183892115(+) AAATAC/TATGAG 2 -- us2k10--------
    rs778361771,2
    F--183892158(+) AAGCAG/ATAAAT 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1386684671,2
    --183892182(+) TTCTAC/TTGCCC 2 -- us2k10--------
    rs731857291,2
    C,F--183892293(+) AAATGG/ACATTA 2 -- us2k11Minor allele frequency- A:0.11NA 120
    rs1893216891,2
    C--183892432(+) TATGCC/TGGAAT 2 -- us2k10--------
    rs1151512351,2
    C,F--183892483(+) TTCCTG/CAGGCG 2 -- us2k11Minor allele frequency- C:0.14WA 118

    HapMap Linkage Disequilibrium report for AP2M1 (183892477 - 183901879 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AP2M1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829812CNV Loss17160897
    nsv878057CNV Loss21882294
    nsv878056CNV Loss21882294
    nsv878058CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601024    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for AP2M1:
    Pain agnosia

    Find genes that share disorders with AP2M1           About GenesLikeMe

    Genetic Association Database (GAD): AP2M1
    Human Genome Epidemiology (HuGE) Navigator: AP2M1 (2 documents)

    Export disorders for AP2M1 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 AP2M1 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with AP2M1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. (PubMed id 8595912)1, 3, 9 Druck T....Keen J.H. (Genomics 1995)
    2. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    3. The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. (PubMed id 19419997)1, 2 Levecque C.... Monaco A.P. (Am. J. Physiol. 2009)
    4. 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)
    5. Clathrin-mediated endocytosis in AP-2-depleted cells. (PubMed id 12952941)1, 2 Motley A.... Robinson M.S. (J. Cell Biol. 2003)
    6. Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery. (PubMed id 12032142)1, 2 Geyer M....Peterlin B.M. (J. Biol. Chem. 2002)
    7. Study of the interaction of the medium chain mu 2 subunit of the clathrin-associated adapter protein complex 2 with cytotoxic T- lymphocyte antigen 4 and CD28. (PubMed id 11583591)1, 2 Follows E.R.... Abbott W.M. (Biochem. J. 2001)
    8. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T.... Nomura N. (DNA Res. 1995)
    9. Activity and in vitro reassembly of the coated vesicle (H+)-ATPase requires the 50-kDa subunit of the clathrin assembly complex AP-2. (PubMed id 7989329)1, 9 Liu Q....Forgac M. (J. Biol. Chem. 1994)
    10. Interaction of CTLA-4 with AP50, a clathrin-coated pit adaptor protein. (PubMed id 9256472)1, 9 Zhang Y. and Allison J.P. (Proc. Natl. Acad. Sci. U.S.A. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 1173 HGNC: 564 AceView: AP2M1 Ensembl:ENSG00000161203 euGenes: HUgn1173
    ECgene: AP2M1 Kegg: 1173 H-InvDB: AP2M1

    (According to HUGE)
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    HUGE: KIAA0109

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

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    NameDescription
    PharmGKB entry for AP2M1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AP2M1 Genetics and Cytogenetics in Oncology and Haematology

    (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 AP2M1 gene:
    Search GeneIP for patents involving AP2M1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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