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

AP1M2 Gene

protein-coding   GIFtS: 63
GCID: GC19M010683

Adaptor-Related Protein Complex 1, Mu 2 Subunit

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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

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. Diseases associated with AP1M2 include agnosia, and chromophobe renal cell carcinoma, and among its related super-pathways are Clathrin-dependent protein traffic and Clathrin derived vesicle budding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP1M2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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
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:

  • UniProtKB: Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6Q5

  • AP1M2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1M2 Protein Expression
    REFSEQ proteins: NP_005489.2  
    ENSEMBL proteins: 
     ENSP00000465865   ENSP00000465685   ENSP00000250244   ENSP00000465488   ENSP00000468260  
     ENSP00000465193   ENSP00000467498   ENSP00000466494   ENSP00000467406  
    Reactome Protein details: Q9Y6Q5
    Human Recombinant Protein Products for AP1M2: 
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    Novus Biologicals AP1M2 Proteins
    Novus Biologicals AP1M2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    AP1M2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR018240 Clathrin_mu_CS
     IPR001392 Clathrin_mu
     IPR008968 Clathrin_mu_C
     IPR022775 AP_mu_sigma_su
     IPR011012 Longin-like_dom

    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


    AP1M2 for domains           About GeneDecksing


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

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    AP1M2 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AP1M2 
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1M2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AP1M2 About   (see all 10)                                                                                              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
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    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 adapters0.75
    Nef mediated downregulation of MHC class I complex cell surface expression0.48
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AP1M2
        Clathrin-dependent protein traffic

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

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

    5/14        Reactome Pathways for AP1M2 (see all 14)
        Membrane Trafficking
    Clathrin derived vesicle budding
    trans-Golgi Network Vesicle Budding
    Adaptive Immune System
    Lysosome Vesicle Biogenesis


    1         Kegg Pathway  (Kegg details for AP1M2):
        Lysosome


    AP1M2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AP1M2

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

    5/82 Interacting proteins for AP1M2 (Q9Y6Q52, 3 ENSP000002502444) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    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
    EPN1Q9Y6I33, ENSP000004062094I2D: score=1 STRING: ENSP00000406209
    GAKO149763, ENSP000003144994I2D: score=1 STRING: ENSP00000314499
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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

    AP1M2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for AP1M2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP1M2

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA 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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    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 

    24/220 AceView cDNA sequences (see all 220):

    CB114605 AU099332 BU856925 BM797346 BC003612 BU859815 BM712002 BM054688 
    BM549470 CR596228 BM909693 AU105313 BE393046 BG535623 CR615885 CB215194 
    BG479295 AA826649 CA488154 CD388032 CB241132 BE795828 BE304538 CB992744 

    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™, 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

    AP1M2 expression in normal human tissues (normalized intensities)      AP1M2 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Renal Collecting Duct System
             Human Renal Mesangial Cells (HRMC)   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             visceral organ/gut/gland   

    See AP1M2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1M2

    SOURCE GeneReport for Unigene cluster: Hs.18894
        SABiosciences Custom PCR Arrays for AP1M2
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    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP1M2 gene from 9/21 species (see all 21)    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
    64(a)
    1 ↔ 1
    AADN03013594.1(21-1610)
    lizard
    (Anolis carolinensis)
    Reptilia AP1M26
    Uncharacterized protein
    78(a)
    1 ↔ 1
    2(80427862-80467527)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.207052 Danio rerio clone RK046A4D02 adaptor-related protein complex 1 mu 1 subunit mRNA, complete cds less 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
    Protein APM-11
    70(a)
    (best of 2)3
    60.38(n)1
    70.17(a)1
      I(12516608-12520954)3
    1721801  NM_059171.41  NP_491572.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APM2(YHL019C)4 Protein of unknown function, homologous to the medium chain of mammalian clathrin-associated protein complex; involved in vesicular transport less   --   8(69548-67731) 856367  NP_011844.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.38392 Transcribed sequence with moderate similarity to protein refNP_176277.1 (A.thaliana) clathrin adaptor medium chain protein MU1B, putative [Arabidopsis thaliana] less 74.01(n)    BU765475.1 
    rice
    (Oryza sativa)
    Liliopsida Os.383792 Oryza sativa (japonica cultivar-group) cDNA cloneJ013030K02, full insert sequence less 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)
    About This Section
    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

    AP1M2 for paralogs           About GeneDecksing


    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) 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

    10/476 SNPs in AP1M2 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607309    OMIM disorders: --

    8 diseases for AP1M2:    About MalaCards
    agnosia    chromophobe renal cell carcinoma    renal cell carcinoma    chronic lymphocytic leukemia
    prostate cancer    leukemia    prostatitis    alzheimer's disease

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

    AP1M2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AP1M2 gene, integrated from 9 sources (see all 43):
    (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. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (1999)
    5. 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. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. HIV-1 envelope glycoprotein biosynthesis, trafficking, and incorporation. (PubMed id 21762802)1 Checkley M.A....Freed E.O. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10053 HGNC: 558 AceView: AP1M2 Ensembl:ENSG00000129354 euGenes: HUgn10053
    ECgene: AP1M2 Kegg: 10053 H-InvDB: AP1M2

    (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 AP1M2 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 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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    About This Section

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