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AP1M2 Gene

protein-coding   GIFtS: 63
GCID: GC19M010683

Adaptor-Related Protein Complex 1, Mu 2 Subunit

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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 1, Mu 2 Subunit1 2     Adaptor-Related Protein Complex 1 Mu-2 Subunit2
Adaptor Protein Complex AP-1 Subunit Mu-22 3     AP-1 Complex Subunit Mu-22
Adaptor-Related Protein Complex 1 Subunit Mu-22 3     Clathrin Assembly Protein Complex 1 Medium Chain 22
Clathrin Assembly Protein Complex 1 Mu-2 Medium Chain 22 3     Clathrin Coat Assembly Protein AP47 22
Golgi Adaptor HA1/AP1 Adaptin Mu-2 Subunit2 3     Clathrin Coat Associated Protein AP47 22
Mu-Adaptin 22 3     Clathrin-Associated Adaptor Medium Chain Mu22
AP-Mu Chain Family Member Mu1B2 3     Golgi Adaptor AP-1 47 KDa Protein2
MU1B2 5     HA1 47 KDa Subunit 22
AP1-mu22     mu1B-adaptin2
HSMU1B2     mu22
MU-1B2     Mu1B-adaptin3
Adaptor Protein Complex AP-1 Mu-2 Subunit2     

External Ids:    HGNC: 5581   Entrez Gene: 100532   Ensembl: ENSG000001293547   OMIM: 6073095   UniProtKB: Q9Y6Q53   

Export aliases for AP1M2 gene to outside databases

Previous GC identifers: GC19M010814 GC19M010906 GC19M010528 GC19M010544 GC19M010261


(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 AP1M2 Gene:
This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the
adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting
signals. (provided by RefSeq, Jul 2008)

GeneCards Summary for AP1M2 Gene:
AP1M2 (adaptor-related protein complex 1, mu 2 subunit) is a protein-coding gene. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot: AP1M2_HUMAN, Q9Y6Q5
Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and
the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

Gene Wiki entry for AP1M2 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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP1M2 gene promoter:
         NF-YB   CBF-B   CBF-A   Ik-2   p53   NF-YA   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP1M2 promoter sequence
   Search Chromatin IP Primers for AP1M2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP1M2


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

AP1M2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1M2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M010683:  view genomic region     (about GC identifiers)

Start:
10,683,347 bp from pter      End:
10,697,991 bp from pter
Size:
14,645 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AP1M2_HUMAN, Q9Y6Q5 (See protein sequence)
Recommended Name: AP-1 complex subunit mu-2  
Size: 423 amino acids; 48108 Da
Subunit: Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit
AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin
(sigma-type subunit AP1S1 or AP1S2 or AP1S3)
Secondary accessions: B2RDV5 Q9BSI8
Alternative splicing: 2 isoforms:  Q9Y6Q5-1   Q9Y6Q5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP1M2: NX_Q9Y6Q5

Explore proteomics data for AP1M2 at MOPED

Post-translational modifications: 

  • Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals (By similarity)1
  • Ubiquitination2 at Lys237, Lys400
  • Modification sites at PhosphoSitePlus

  • See AP1M2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005489.2  
    ENSEMBL proteins: 
     ENSP00000465865   ENSP00000465685   ENSP00000250244   ENSP00000465488   ENSP00000468260  
     ENSP00000465193   ENSP00000467498   ENSP00000466494   ENSP00000467406  
    Reactome Protein details: Q9Y6Q5

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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 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 Q9Y6Q5

    ProtoNet protein and cluster: Q9Y6Q5

    1 Blocks protein domain: IPB001392 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP1M2_HUMAN, Q9Y6Q5
    Similarity: Belongs to the adaptor complexes medium subunit family
    Similarity: Contains 1 MHD (mu homology) domain


    Find genes that share domains with AP1M2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: AP1M2_HUMAN, Q9Y6Q5
    Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
    trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and
    the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with AP1M2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AP1M2:
     Decreased viability of wild-ty  Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AP1M2

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    miRTarBase miRNAs that target AP1M2:
    hsa-mir-124-3p (MIRT002715)

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    6 qRT-PCR Assays for microRNAs that regulate AP1M2:
    hsa-miR-3910 hsa-miR-3163 hsa-miR-124 hsa-miR-376a* hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidAP1M2 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
    AP1M2_HUMAN, Q9Y6Q5: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane
    protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located
    at the Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    lysosome4
    vacuole4
    endosome2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0030131clathrin adaptor complex IEA--
    GO:0030659cytoplasmic vesicle membrane TAS--

    Find genes that share ontologies with AP1M2           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 AP1M2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    3Nef-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 downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    4HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41


    Find genes that share SuperPaths with AP1M2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AP1M2
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1M2
        Transport Clathrin-coated vesicle cycle

    4 Reactome Pathways for AP1M2
        Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis
    Nef mediated downregulation of MHC class I complex cell surface expression
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for AP1M2):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP1M2
    Interactions:

        GeneGlobe Interaction Network for AP1M2

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

    Selected Interacting proteins for AP1M2 (Q9Y6Q52, 3 ENSP000002502444) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2B1P630102, 3, ENSP000003144144MINT-68428 I2D: score=5 STRING: ENSP00000314414
    AP1B1Q105673, ENSP000003501994I2D: score=1 STRING: ENSP00000350199
    AP1S1P619663, ENSP000003366664I2D: score=1 STRING: ENSP00000336666
    GAKO149763, ENSP000003144994I2D: score=1 STRING: ENSP00000314499
    SCNN1GP511703, ENSP000003000614I2D: score=1 STRING: ENSP00000300061
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting TAS10338135
    GO:0006810transport ----
    GO:0006886intracellular protein transport ----
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006903vesicle targeting TAS10338135

    Find genes that share ontologies with AP1M2           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 Small Molecules at EMD Millipore
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    Browse Tocris compounds for AP1M2



    (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 AP1M2 gene: 
    NM_005498.4  

    Unigene Cluster for AP1M2:

    Adaptor-related protein complex 1, mu 2 subunit
    Hs.18894  [show with all ESTs]
    Unigene Representative Sequence: BC005021
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587069 ENST00000590923 ENST00000250244(uc002mpc.3 uc002mpd.3)
    ENST00000589348 ENST00000592285 ENST00000591240 ENST00000589684 ENST00000591676
    ENST00000589571 ENST00000589809
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    6 qRT-PCR Assays for microRNAs that regulate AP1M2:
    hsa-miR-3910 hsa-miR-3163 hsa-miR-124 hsa-miR-376a* hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidAP1M2 3' UTR sequence
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    Additional mRNA sequence: 

    AF020797.2 AK023863.1 AK222946.1 AK315689.1 BC003387.2 BC003612.2 BC005021.1 

    6 DOTS entries:

    DT.445443  DT.95216418  DT.100682115  DT.100024120  DT.100795752  DT.91750204 

    Selected AceView cDNA sequences (see all 220):

    BM054688 BM909693 BM549470 CB114605 CR615885 BG535623 CR596228 BE393046 
    BG479295 CA488154 BM797346 AA826649 BM712002 BC003612 AU105313 CB215194 
    AU099332 BU859815 BU856925 AW206617 AL709823 CA453432 BX097750 AW673660 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AP1M2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                -                           


    ECgene alternative splicing isoforms for AP1M2

    (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)
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    AP1M2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATCATTG
    AP1M2 Expression
    About this image


    AP1M2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Lung (Respiratory System)
             Trachea
     
     NULL (Uncategorized)
             Mesenchymal Progenitor Cells - Passage 2
    AP1M2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP1M2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.18894
        Custom PCR Arrays for AP1M2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1M2

    (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 AP1M2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1m21 , 5 adaptor protein complex AP-1, mu 2 subunit1, 5 87(n)1
    96.93(a)1
      9 (7.76 cM)5
    117681  NM_001110300.11  NP_001103770.11 
     212954575 
    chicken
    (Gallus gallus)
    Aves AP1M26
    adaptor-related protein complex 1, mu 2 subunit
    69(a)
    1 ↔ 1
    AADN03013594.1(21-1610)
    lizard
    (Anolis carolinensis)
    Reptilia AP1M26
    adaptor-related protein complex 1, mu 2 subunit
    78(a)
    1 ↔ 1
    2(80427862-80467527)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ap1m21 adaptor-related protein complex 1, mu 2 subunit 78.25(n)
    89.83(a)
      448603  NM_001006850.1  NP_001006851.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.207052 Danio rerio clone RK046A4D02 adaptor-related protein more 79.11(n)    AY394943.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-473 non-selective vesicle coating 75(a)   85D24   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1013
    apm-11
    clathrin coat assembly protein3
    apm-11
    70(a)
    (best of 2)3
    60.25(n)1
    69.83(a)1
      I(12516608-12520954)3
    1721801  NM_059171.51  NP_491572.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APM2(YHL019C)4 Protein of unknown function, homologous to the medium more   --   8(69548-67731) 856367  NP_011844.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.38392 Transcribed sequence with moderate similarity to protein more 74.01(n)    BU765475.1 
    rice
    (Oryza sativa)
    Liliopsida Os.383792 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.69(n)    NM_191625.1 


    ENSEMBL Gene Tree for AP1M2 (if available)
    TreeFam Gene Tree for AP1M2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP1M2 gene
    AP3M12  AP4M12  AP3M22  AP2M12  AP1M12  
    6 SIMAP similar genes for AP1M2 using alignment to 8 protein entries:     AP1M2_HUMAN (see all proteins):
    AP1M1    AP2M1    AP3M1    AP3M2    DKFZp686E11263    AP4M1

    Find genes that share paralogs with AP1M2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AP1M2
    PGOHUM00000241816


    (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)
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    Selected SNPs for AP1M2 (see all 476)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876254951,2
    --10682927(+) GCCTTA/GGCGAC 1 -- ds50010--------
    rs1492515471,2
    --10682930(+) TTGGCA/GACAGA 1 -- ds50010--------
    rs116666251,2
    C,F,H--10683090(+) agatcA/Gcgaca 1 -- ds50010--------
    rs1170897891,2
    C,F--10683369(+) TGACAT/ACCTAA 1 -- ut311Minor allele frequency- A:0.01EA 120
    rs72539651,2
    C,F,H--10683477(+) CGAGGA/C/GGGACT 2 -- ut31 ese318NS EA NA WA CSA 1172
    rs760228861,2
    C--10683538(+) TCCAAC/GGGCGA 1 -- ut310--------
    rs32173921,2
    C--10683551(-) TCTCT-/CTGCTTC 1 -- ut312Minor allele frequency- CT:0.25NA 4
    rs23041631,2
    C,F,H--10683602(-) CACCCG/ACCCCT 1 -- ut31 ese37Minor allele frequency- A:0.45EA NS NA 1998
    rs1848595101,2
    --10683660(+) CACACA/TGCCCG 1 -- ut310--------
    rs2001974251,2
    C--10683810(+) GAGAGG/CGGGGC 1 -- int11Minor allele frequency- C:0.00EU 525

    HapMap Linkage Disequilibrium report for AP1M2 (10683347 - 10697991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AP1M2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911045CNV Loss21882294
    nsv833744CNV Loss17160897
    nsv911047CNV Loss21882294
    nsv911046CNV Loss21882294
    nsv911042CNV Loss21882294
    nsv833745CNV Loss17160897
    dgv3727n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP1M2
    DNA2.0 Custom Variant and Variant Library Synthesis for AP1M2

    (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: 607309    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for AP1M2:
    Pain agnosia

    Find genes that share disorders with AP1M2           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: AP1M2 (1 document)

    Export disorders for AP1M2 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 AP1M2 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with AP1M2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mu1B, a novel adaptor medium chain expressed in polarized epithelial cells. (PubMed id 10338135)1, 2, 3 Ohno H.... Bonifacino J.S. (FEBS Lett. 1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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)
    4. Genomic structure and chromosome mapping of the genes encoding clathrin-associated adaptor medium chains mu1A (Ap1m1) and mu1B (Ap1m2). (PubMed id 10640811)1, 9 Nakatsu F....Ohno H. (Cytogenet. Cell Genet. 1999)
    5. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (Haematologica 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. (PubMed id 21163940)1 Soler-LA^pez M....Aloy P. (Genome Res. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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: 10053 HGNC: 558 AceView: AP1M2 Ensembl:ENSG00000129354 euGenes: HUgn10053
    ECgene: AP1M2 Kegg: 10053 H-InvDB: AP1M2

    (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 AP1M2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP1M2 gene:
    Search GeneIP for patents involving AP1M2

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



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