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AP3M2 Gene

protein-coding   GIFtS: 53
GCID: GC08P042027

Adaptor-Related Protein Complex 3, 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 3, Mu 2 Subunit1 2     AP47B2
Adapter-Related Protein Complex 3 Subunit Mu-22 3     Adapter-Related Protein Complex 3 Mu-2 Subunit2
Clathrin Assembly Protein Assembly Protein Complex 3 Mu-2 Medium Chain2 3     AP-3 Complex Subunit Mu-22
Clathrin Coat Assembly Protein AP47 Homolog 22 3     Clathrin Assembly Protein Assembly Protein Complex 1 Medium Chain Homolog
22
Clathrin Coat-Associated Protein AP47 Homolog 22 3     Clathrin-Associated Protein AP47 Homolog 22
Golgi Adaptor AP-1 47 KDa Protein Homolog 22 3     HA1 47kDA Subunit Homolog 22
P47B2 3     mu3B-adaptin2
HA1 47 KDa Subunit Homolog 22 3     Mu3B-adaptin3
CLA202 5     

External Ids:    HGNC: 5701   Entrez Gene: 109472   Ensembl: ENSG000000707187   OMIM: 6104695   UniProtKB: P536773   

Export aliases for AP3M2 gene to outside databases

Previous GC identifers: GC08P041394 GC08P042039 GC08P041751 GC08P042129 GC08P040537


(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 AP3M2 Gene:
This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the
adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and
specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified.
(provided by RefSeq, Aug 2008)

GeneCards Summary for AP3M2 Gene:
AP3M2 (adaptor-related protein complex 3, mu 2 subunit) is a protein-coding gene. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot: AP3M2_HUMAN, P53677
Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is
associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
from the Golgi membrane and may be directly involved in trafficking to lysosomes. 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




(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_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP3M2 gene promoter:
         MIF-1   LCR-F1   YY1   E47   c-Ets-1   S8   SRY   PPAR-gamma1   Nkx6-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP3M2 promoter sequence
   Search Chromatin IP Primers for AP3M2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP3M2


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

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.2

AP3M2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP3M2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P042027:  view genomic region     (about GC identifiers)

Start:
42,010,464 bp from pter      End:
42,029,191 bp from pter
Size:
18,728 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: AP3M2_HUMAN, P53677 (See protein sequence)
Recommended Name: AP-3 complex subunit mu-2  
Size: 418 amino acids; 46977 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)
Secondary accessions: B2RCR0 D3DSY2

Explore the universe of human proteins at neXtProt for AP3M2: NX_P53677

Explore proteomics data for AP3M2 at MOPED


See AP3M2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001127768.1  NP_006794.1  

ENSEMBL proteins: 
 ENSP00000428787   ENSP00000430200   ENSP00000380132   ENSP00000430616   ENSP00000431918  
 ENSP00000429515   ENSP00000430538   ENSP00000429435   ENSP00000429037   ENSP00000428279  
 ENSP00000429804   ENSP00000174653  

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Novus Biologicals AP3M2 Lysate
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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 P53677

ProtoNet protein and cluster: P53677

2 Blocks protein domains:
IPB000804 Clathrin adaptor complex
IPB001392 Clathrin adaptor complex


UniProtKB/Swiss-Prot: AP3M2_HUMAN, P53677
Similarity: Belongs to the adaptor complexes medium subunit family
Similarity: Contains 1 MHD (mu homology) domain


Find genes that share domains with AP3M2           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: AP3M2_HUMAN, P53677
Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is
associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
from the Golgi membrane and may be directly involved in trafficking to lysosomes. 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): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with AP3M2           About GenesLikeMe


Phenotypes:
     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ap3m2):
 behavior/neurological  nervous system 

Find genes that share phenotypes with AP3M2           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Ap3m2tm1Ohno for AP3M2

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP3M2
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP3M2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP3M2

miRNA
Products:
    
miRTarBase miRNAs that target AP3M2:
hsa-mir-215-5p (MIRT024812), hsa-mir-122-5p (MIRT003104), hsa-mir-26b-5p (MIRT028831), hsa-mir-192-5p (MIRT026147), hsa-mir-193b-3p (MIRT041318)

Block miRNA regulation of human, mouse, rat AP3M2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate AP3M2 (see all 16):
hsa-miR-623 hsa-miR-548p hsa-miR-7-2* hsa-miR-146a hsa-miR-545 hsa-miR-1205 hsa-miR-192 hsa-miR-1184
SwitchGear 3'UTR luciferase reporter plasmidAP3M2 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat AP3M2

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GenScript: all cDNA clones in your preferred vector (see all 2): AP3M2 (NM_006803)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP3M2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP3M2

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3M2


(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
AP3M2_HUMAN, P53677: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side
(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
cytosol2
endoplasmic reticulum1
mitochondrion1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005794Golgi apparatus IEA--
GO:0030119AP-type membrane coat adaptor complex TAS8076832
GO:0030131clathrin adaptor complex IEA--
GO:0030659cytoplasmic vesicle membrane IEA--

Find genes that share ontologies with AP3M2           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 AP3M2 About    
See pathways by source

SuperPathContained pathways About
1Lysosome
Lysosome


Find genes that share SuperPaths with AP3M2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for AP3M2):
    Lysosome

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP3M2
Interactions:

    Search GeneGlobe Interaction Network for AP3M2

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

Selected Interacting proteins for AP3M2 (P536773 ENSP000001746534) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
InteractantInteraction Details
GeneCardExternal ID(s)
YWHABP319463I2D: score=1 
AFTPHENSP000002388554STRING: ENSP00000238855
AP1S1ENSP000003366664STRING: ENSP00000336666
AP1S2ENSP000003287894STRING: ENSP00000328789
AP2A1ENSP000003519264STRING: ENSP00000351926
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport ----
GO:0006886intracellular protein transport IEA--
GO:0008089anterograde axon cargo transport ISS--
GO:0016192vesicle-mediated transport ----
GO:0048490anterograde synaptic vesicle transport ISS--

Find genes that share ontologies with AP3M2           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 AP3M2



(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 AP3M2 gene (2 alternative transcripts): 
NM_001134296.1  NM_006803.3  

Unigene Cluster for AP3M2:

Adaptor-related protein complex 3, mu 2 subunit
Hs.654529  [show with all ESTs]
Unigene Representative Sequence: NM_001134296
17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000518421(uc003xop.3) ENST00000517865(uc003xoq.2) ENST00000396926
ENST00000520685 ENST00000521280 ENST00000530375 ENST00000522288 ENST00000521235
ENST00000517969 ENST00000517922 ENST00000523249 ENST00000517499 ENST00000521899
ENST00000522320 ENST00000522606 ENST00000520689 ENST00000174653(uc003xoo.3 uc010lxe.3)

miRNA
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Block miRNA regulation of human, mouse, rat AP3M2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate AP3M2 (see all 16):
hsa-miR-623 hsa-miR-548p hsa-miR-7-2* hsa-miR-146a hsa-miR-545 hsa-miR-1205 hsa-miR-192 hsa-miR-1184
SwitchGear 3'UTR luciferase reporter plasmidAP3M2 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for AP3M2
Predesigned siRNA for gene silencing in human, mouse, rat AP3M2
Clone
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OriGene clones in human, mouse for AP3M2 (see all 13)
OriGene ORF clones in mouse, rat for AP3M2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): AP3M2 (NM_006803)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP3M2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP3M2
Primer
Products:
    
OriGene qPCR primer pairs and template standards for AP3M2
OriGene qSTAR qPCR primer pairs in human, mouse for AP3M2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP3M2
  QuantiTect SYBR Green Assays in human, mouse, rat AP3M2
  QuantiFast Probe-based Assays in human, mouse, rat AP3M2

Additional mRNA sequence: 

AK315228.1 BC021966.2 BC056257.1 BC056398.1 BX648354.1 BX648390.1 D38293.1 

14 DOTS entries:

DT.100723186  DT.416984  DT.75105633  DT.95169003  DT.120635675  DT.91673615  DT.91748851  DT.100669543 
DT.40250523  DT.416986  DT.91723391  DT.100783099  DT.120635677  DT.100783097 

Selected AceView cDNA sequences (see all 213):

AI434968 CR610500 CD105799 BM468708 AA346864 N79338 BC056398 AW583345 
CB853501 AA331409 AW674468 AU143402 D38713 AA132132 AA705505 BQ942738 
BF115072 AL705978 AA310729 BQ004292 BX475052 AI052085 BU159592 BX648354 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for AP3M2 (see all 10)    About this scheme

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


ECgene alternative splicing isoforms for AP3M2

(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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AP3M2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGCAGAAGTA
AP3M2 Expression
About this image

AP3M2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AP3M2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.654529
    Custom PCR Arrays for AP3M2
Primer
Products:
OriGene qPCR primer pairs and template standards for AP3M2
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QuantiFast Probe-based Assays in human, mouse, rat AP3M2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3M2

(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 AP3M2 gene from Selected species (see all 21)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ap3m21 , 5 adaptor-related protein complex 3, mu 2 subunit1, 5 88.6(n)1
98.33(a)1
  8 (11.42 cM)5
649331  NM_001122820.11  NP_001116292.11 
 227873545 
chicken
(Gallus gallus)
Aves AP3M21 adaptor-related protein complex 3, mu 2 subunit 83.81(n)
96.65(a)
  426790  XM_424403.4  XP_424403.2 
lizard
(Anolis carolinensis)
Reptilia AP3M26
adaptor-related protein complex 3, mu 2 subunit
98(a)
1 ↔ 1
GL343545.1(287680-295503)
African clawed frog
(Xenopus laevis)
Amphibia Xl.324232 Xenopus laevis transcribed sequence with strong similarity more 80.85(n)    BX846221.1 
zebrafish
(Danio rerio)
Actinopterygii ap3m21 adaptor-related protein complex 3, mu 2 subunit 77.11(n)
91.15(a)
  415244  NM_001002154.1  NP_001002154.1 
fruit fly
(Drosophila melanogaster)
Insecta cm1 , 3 ommochrome biosynthesis3
carmine1
69(a)3
65.3(n)1
70.29(a)1
  1 6E43
316471  NM_001272373.11  NP_001259302.11 
worm
(Caenorhabditis elegans)
Secernentea apm-36
Protein APM-3 (apm-3) mRNA, complete cds
63(a)
1 → many
X(954935-957763) WBGene00000164
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM3(YBR288C)4 Mu3-like subunit of the clathrin associated protein more   --   2(779463-778012) 852591  NP_009847.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons ZIP41 ZIP4 50.16(n)
44.66(a)
  842113  NM_104536.4  NP_176052.3 
rice
(Oryza sativa)
Liliopsida Os05g03831001 Os05g0383100 50.28(n)
43.34(a)
  4338648  NM_001061945.1  NP_001055410.1 


ENSEMBL Gene Tree for AP3M2 (if available)
TreeFam Gene Tree for AP3M2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AP3M2 gene
AP3M12  AP4M12  AP1M22  AP2M12  AP1M12  
5 SIMAP similar genes for AP3M2 using alignment to 9 protein entries:     AP3M2_HUMAN (see all proteins):
AP3M1    DKFZp586G1518    AP1M1    AP1M2    AP2M1

Find genes that share paralogs with AP3M2           About GenesLikeMe


1 Pseudogenes.org Pseudogene for AP3M2
PGOHUM00000236203


(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 AP3M2 (see all 466)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs117838641,2
C,A,H--42008489(+) gcctcT/Ctgggt 2 -- us2k12Minor allele frequency- C:0.25NA CSA 4
rs1811879921,2
--42008510(+) CTCCCA/GTCTCA 2 -- us2k10--------
rs1861677131,2
--42008548(+) ACGTGA/CCATCA 2 -- us2k10--------
rs1888736541,2
--42008596(+) TTCATC/GATGTT 2 -- us2k10--------
rs1462448231,2
--42008618(+) TCTTGA/CACTCC 2 -- us2k10--------
rs1506146021,2
C--42008695(+) CCCAG-/CTCCAAG 2 -- us2k10--------
rs1820652121,2
--42008698(+) AGCTCC/GAAGAG 2 -- us2k10--------
rs1112393491,2
C,F--42008759(+) CCTGGC/TGCATG 2 -- us2k12Minor allele frequency- T:0.05CSA WA 120
rs1379816081,2
--42008761(+) TGGCGC/TATGGT 2 -- us2k10--------
rs1864012191,2
--42008992(+) ATCTAC/TCCCTG 2 -- us2k10--------

HapMap Linkage Disequilibrium report for AP3M2 (42010464 - 42029191 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for AP3M2: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AP3M2
DNA2.0 Custom Variant and Variant Library Synthesis for AP3M2

(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: 610469    OMIM disorders: --


Find genes that share disorders with AP3M2           About GenesLikeMe

Genetic Association Database (GAD): AP3M2
Human Genome Epidemiology (HuGE) Navigator: AP3M2 (2 documents)

Export disorders for AP3M2 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 AP3M2 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with AP3M2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification. (PubMed id 7601449)1, 2, 3 Koyama K.... Nakamura Y. (Genomics 1995)
  2. Association analysis between schizophrenia and the AP-3 complex genes. (PubMed id 19481122)1, 4 Hashimoto R....Kunugi H. (Neurosci. Res. 2009)
  3. Mutation screening of AP3M2 in Japanese epilepsy patients. (PubMed id 17293072)1, 4 Huang M.C....Kojima T. (amp 2007)
  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. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (PLoS ONE 2012)
  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. 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)
  8. Human immunodeficiency virus type-1 gag and host vesicular trafficking pathways. (PubMed id 20012524)1 Chu H....Spearman P. (Curr. Top. Microbiol. Immunol. 2009)
  9. HIV-1 Vpu inhibits accumulation of the envelope glycoprotein within clathrin-coated, Gag-containing endosomes. (PubMed id 18076669)1 Van Damme N. and Guatelli J. (Cell. Microbiol. 2008)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(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: 10947 HGNC: 570 AceView: AP3M2 Ensembl:ENSG00000070718 euGenes: HUgn10947
ECgene: AP3M2 Kegg: 10947 H-InvDB: AP3M2

(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 AP3M2 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 AP3M2 gene:
Search GeneIP for patents involving AP3M2

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



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