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AP3B2 Gene

protein-coding   GIFtS: 59
GCID: GC15M083328

Adaptor-Related Protein Complex 3, Beta 2 Subunit

  See AP3B2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 3, Beta 2 Subunit1 2     NAPTB2 5
Adapter-Related Protein Complex 3 Subunit Beta-22 3     AP-3 Complex Subunit Beta-22
Adaptor Protein Complex AP-3 Subunit Beta-22 3     beta-3B-adaptin2
Clathrin Assembly Protein Complex 3 Beta-2 Large Chain2 3     Neuronal Adaptin-Like Protein, Beta-Subunit2
Neuron-Specific Vesicle Coat Protein Beta-NAP2 3     Beta-3B-adaptin3

External Ids:    HGNC: 5671   Entrez Gene: 81202   Ensembl: ENSG000001037237   OMIM: 6021665   UniProtKB: Q133673   

Export aliases for AP3B2 gene to outside databases

Previous GC identifers: GC15P079309 GC15M076261 GC15M080912 GC15M081053 GC15M081125 GC15M059598


(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 AP3B2 Gene:
Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously
expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes
AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006
(PubMed 16788073)).(supplied by OMIM, Mar 2008)

GeneCards Summary for AP3B2 Gene:
AP3B2 (adaptor-related protein complex 3, beta 2 subunit) is a protein-coding gene. Diseases associated with AP3B2 include congenital diaphragmatic hernia. GO annotations related to this gene include transporter activity. An important paralog of this gene is AP3B1.

UniProtKB/Swiss-Prot: AP3B2_HUMAN, Q13367
Function: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in
protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the
recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of
transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins
targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to
target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Wiki entry for AP3B2 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP3B2 gene promoter:
         HFH-3   GCNF   RORalpha2   FOXL1   FOXI1   GCNF-1   ARP-1   GCNF-2   FOXO1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP3B2 promoter sequence
   Search Chromatin IP Primers for AP3B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP3B2


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

Entrez Gene cytogenetic band: 15q   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q

AP3B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP3B2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M083328:  view genomic region     (about GC identifiers)

Start:
83,328,033 bp from pter      End:
83,378,666 bp from pter
Size:
50,634 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., 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: AP3B2_HUMAN, Q13367 (See protein sequence)
Recommended Name: AP-3 complex subunit beta-2  
Size: 1082 amino acids; 119059 Da
Subunit: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a
heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a
medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2)
Developmental stage: Expressed from early in development through adulthood
Secondary accessions: A4Z4T7 O14808 Q52LY8
Alternative splicing: 2 isoforms:  Q13367-1   Q13367-2   (Relatively high levels in brain and testis)

Explore the universe of human proteins at neXtProt for AP3B2: NX_Q13367

Explore proteomics data for AP3B2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AP3B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265440.1  NP_001265441.1  NP_004635.2  

    ENSEMBL proteins: 
     ENSP00000261722   ENSP00000438721   ENSP00000440984   ENSP00000445804   ENSP00000441961  
     ENSP00000440719  

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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 7):
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR013041 Coatomer/clathrin_app_Ig-like
     IPR008153 Clathrin_g-adaptin_app
     IPR026740 AP3_beta

    Graphical View of Domain Structure for InterPro Entry Q13367

    ProtoNet protein and cluster: Q13367

    1 Blocks protein domain: IPB002553 Adaptin

    UniProtKB/Swiss-Prot: AP3B2_HUMAN, Q13367
    Similarity: Belongs to the adaptor complexes large subunit family


    Find genes that share domains with AP3B2           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: AP3B2_HUMAN, Q13367
    Function: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in
    protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the
    recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of
    transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins
    targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to
    target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS7671305
    GO:0005488binding ----
         
    Find genes that share ontologies with AP3B2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AP3B2:
     Increased S DNA content  Increased cell number in G2M,   S arrest 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ap3b2):
     behavior/neurological  hearing/vestibular/ear  integument  nervous system  vision/eye 

    Find genes that share phenotypes with AP3B2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ap3b2tm1Bur for AP3B2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP3B2
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    SwitchGear 3'UTR luciferase reporter plasmidAP3B2 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
    AP3B2_HUMAN, Q13367: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane
    protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat
    surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol2
    plasma membrane2
    endosome1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0030117membrane coat ----

    Find genes that share ontologies with AP3B2           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 AP3B2 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome
    2ATM Pathway
    ATM Pathway


    Find genes that share SuperPaths with AP3B2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AP3B2
        ATM Pathway


    1 Kegg Pathway  (Kegg details for AP3B2):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP3B2
    Interactions:

        Search GeneGlobe Interaction Network for AP3B2

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

    Selected Interacting proteins for AP3B2 (Q133672, 3 ENSP000002617224) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP3S1Q925723, ENSP000003253694I2D: score=1 STRING: ENSP00000325369
    ATMQ133153, ENSP000002786164I2D: score=2 STRING: ENSP00000278616
    CLTCQ006103, ENSP000002691224I2D: score=2 STRING: ENSP00000269122
    CSNK1A1P487293, ENSP000002617984I2D: score=1 STRING: ENSP00000261798
    ADAP1O756893, ENSP000002658464I2D: score=1 STRING: ENSP00000265846
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS7671305
    GO:0008089anterograde axon cargo transport ISS--
    GO:0016192vesicle-mediated transport ----
    GO:0048490anterograde synaptic vesicle transport ISS--

    Find genes that share ontologies with AP3B2           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AP3B2



    (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 AP3B2 gene (3 alternative transcripts): 
    NM_001278511.1  NM_001278512.1  NM_004644.4  

    Unigene Cluster for AP3B2:

    Adaptor-related protein complex 3, beta 2 subunit
    Hs.199593  [show with all ESTs]
    Unigene Representative Sequence: CR749860
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261722(uc010uoh.2 uc010uoi.2 uc010uoj.2) ENST00000543938(uc010uog.2)
    ENST00000537735(uc010bmp.3) ENST00000535348 ENST00000535359 ENST00000545315
    ENST00000538592 ENST00000559888 ENST00000541693 ENST00000535385 ENST00000542200
    ENST00000561455 ENST00000535513(uc010uok.1) ENST00000560529
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    hsa-miR-222 hsa-miR-221 hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidAP3B2 3' UTR sequence
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    Additional mRNA sequence: 

    AF022152.1 AK097827.1 AK294331.1 BC008350.1 BC026700.1 BC093739.1 BC143342.1 BC143346.1 
    CR749860.1 DQ092369.1 U37673.1 

    11 DOTS entries:

    DT.213490  DT.100783100  DT.95234195  DT.101982366  DT.97838196  DT.100060662  DT.40109445  DT.75101081 
    DT.97807280  DT.97838195  DT.75180272 

    Selected AceView cDNA sequences (see all 80):

    AA339232 BU727978 NM_004644 BM718143 AI989752 BQ889376 AI092419 BU737458 
    BM709392 BX107950 BQ788063 AF022152 BM724811 BX115463 BI828376 AI088084 
    BC026700 BC008350 AA723961 BX477853 AW296800 BM564866 BM699016 BI823751 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP3B2 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16a ·
    SP1:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -     -     -     -                           
    SP2:                                                                                            -                 -     -     -     -                           
    SP3:                                                                                                              -     -     -     -                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for AP3B2

    (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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    AP3B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCCTTAG
    AP3B2 Expression
    About this image


    AP3B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Mature Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
    AP3B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP3B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.199593

    UniProtKB/Swiss-Prot: AP3B2_HUMAN, Q13367
    Tissue specificity: Expression is specific to nervous system. Expressed in nerve terminal and cell body, and is
    associated with nerve-terminal vesicles. Expression seen in Purkinje cells, cortical neurons, neuroectodermal
    tumors and graded in cerebral cortex (deeper layers exhibit stronger expression)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B2

    (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 animals and fungi.

    Orthologs for AP3B2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap3b21 , 5 adaptor-related protein complex 3, beta 2 subunit1, 5 87.31(n)1
    93.8(a)1
      7 (45.71 cM)5
    117751  NM_021492.31  NP_067467.21 
     814603995 
    chicken
    (Gallus gallus)
    Aves AP3B21 adaptor-related protein complex 3, beta 2 subunit 77.23(n)
    81.46(a)
      769343  XM_004943634.1  XP_004943691.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP3B26
    adaptor-related protein complex 3, beta 2 subunit
    78(a)
    1 ↔ 1
    GL343479.1(518771-554505)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX704931.12   -- 75.22(n)    BX704931.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap3b12 adaptor-related protein complex 3, beta 1 subunit 80.48(n)   386770  57045973 
    fruit fly
    (Drosophila melanogaster)
    Insecta rb3 ommochrome biosynthesis 64(a)   1 4C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea apb-36
    Protein APB-3, isoform a (apb-3) mRNA, complete cd...
    40(a)
    1 → many
    I(7853750-7857834) WBGene00000163
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL66
    Beta3-like subunit of the yeast AP-3 complex; func...
    23(a)
    1 → many
    VII(1014321-1016750) YGR261C


    ENSEMBL Gene Tree for AP3B2 (if available)
    TreeFam Gene Tree for AP3B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP3B2 gene
    AP3B12  
    3 SIMAP similar genes for AP3B2 using alignment to 6 protein entries:     AP3B2_HUMAN (see all proteins):
    DKFZp686D17136    AP3B1    AP2B1

    Find genes that share paralogs with AP3B2           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)
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    Selected SNPs for AP3B2 (see all 262)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs71840451,2
    C--83362160(+) cgctcC/Gggtaa 1 -- int12Minor allele frequency- G:0.25NA 4
    rs1868411011,2
    --83362250(+) CGCCTC/TATCCT 1 -- int10--------
    rs2007626891,2
    --83362384(+) TACAA-/AAGAAGGA 1 -- int10--------
    rs106124411,2
    C--83362386(+) CAAAA-/GAAG  
            
    GAAGG
    1 -- int10--------
    rs1417962831,2
    --83362707(+) CTCAGC/TCTCCC 1 -- int10--------
    rs1505819951,2
    --83362744(+) CACTGC/TGCCCA 1 -- int10--------
    rs285954501,2
    C--83362758(+) CTTTTT/CTTCGT 1 -- int1 trp35Minor allele frequency- C:0.30WA NA EA 362
    rs1387482331,2
    C--83362809(+) GGAGTA/GCAGTG 1 -- int10--------
    rs1417857941,2
    C--83362832(+) CTCACG/TGCAGC 1 -- int10--------
    rs1892184381,2
    --83362909(+) CACCAA/CCATGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for AP3B2 (83328033 - 83378666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AP3B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674021CNV Deletion23128226
    esv34318CNV Loss17911159
    nsv94434CNV Loss16902084
    nsv817702CNV Loss17921354
    nsv904450CNV Gain21882294
    esv23134CNV Gain19812545

    Human Gene Mutation Database (HGMD): AP3B2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP3B2
    DNA2.0 Custom Variant and Variant Library Synthesis for AP3B2

    (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: 602166    OMIM disorders: --

    1 disease for AP3B2:    
    About MalaCards
    congenital diaphragmatic hernia

    1 disease from the University of Copenhagen DISEASES database for AP3B2:
    Congenital diaphragmatic hernia

    Find genes that share disorders with AP3B2           About GenesLikeMe

    Genetic Association Database (GAD): AP3B2
    Human Genome Epidemiology (HuGE) Navigator: AP3B2 (1 document)

    Export disorders for AP3B2 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 AP3B2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with AP3B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. (PubMed id 7671305)1, 2, 3 Newman L.S.... Darnell R.B. (Cell 1995)
    2. Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. (PubMed id 1851215)1, 2, 3 Darnell R.B.... Posner J.B. (J. Neurosci. 1991)
    3. Association analysis between schizophrenia and the AP-3 complex genes. (PubMed id 19481122)1, 4 Hashimoto R....Kunugi H. (Neurosci. Res. 2009)
    4. Characterization of AP3B2_v2, a novel splice variant of human AP3B2. (PubMed id 17453999)1, 2 Chen C.... Mao Y. (DNA Seq. 2007)
    5. 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)
    6. AP-3: an adaptor-like protein complex with ubiquitous expression. (PubMed id 9118953)1, 9 Dell'Angelica E.C....Bonifacino J.S. (EMBO J. 1997)
    7. Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. (PubMed id 23118302)1 Chu A.Y....Ridker P.M. (Circ Cardiovasc Genet 2012)
    8. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    9. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. (PubMed id 20531441)1 Nicolas E....Delague V. (Eur. J. Hum. Genet. 2010)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)

    (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: 8120 HGNC: 567 AceView: AP3B2 Ensembl:ENSG00000103723 euGenes: HUgn8120
    ECgene: AP3B2 Kegg: 8120 H-InvDB: AP3B2

    (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 AP3B2 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 AP3B2 gene:
    Search GeneIP for patents involving AP3B2

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



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