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Aliases for AP3M2 Gene

Aliases for AP3M2 Gene

  • Adaptor Related Protein Complex 3 Mu 2 Subunit 2 3 5
  • Clathrin Assembly Protein Assembly Protein Complex 3 Mu-2 Medium Chain 3 4
  • Clathrin Coat-Associated Protein AP47 Homolog 2 3 4
  • Adaptor-Related Protein Complex 3 Subunit Mu-2 3 4
  • Clathrin Coat Assembly Protein AP47 Homolog 2 3 4
  • HA1 47 KDa Subunit Homolog 2 3 4
  • Mu3B-Adaptin 3 4
  • P47B 3 4
  • Clathrin Assembly Protein Assembly Protein Complex 1 Medium Chain Homolog 2 3
  • Adaptor-Related Protein Complex 3, Mu 2 Subunit 2
  • Adapter-Related Protein Complex 3 Mu-2 Subunit 3
  • Adapter-Related Protein Complex 3 Subunit Mu-2 3
  • Golgi Adaptor AP-1 47 KDA Protein Homolog 2 3
  • Golgi Adaptor AP-1 47 KDa Protein Homolog 2 4
  • Clathrin-Associated Protein AP47 Homolog 2 3
  • HA1 47kDA Subunit Homolog 2 3
  • AP-3 Complex Subunit Mu-2 3
  • AP47B 3
  • CLA20 3

External Ids for AP3M2 Gene

Previous GeneCards Identifiers for AP3M2 Gene

  • GC08P041394
  • GC08P042039
  • GC08P041751
  • GC08P042027
  • GC08P040537

Summaries for AP3M2 Gene

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. Among its related pathways are Lysosome. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot for AP3M2 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3M2 Gene

Genomics for AP3M2 Gene

Regulatory Elements for AP3M2 Gene

Enhancers for AP3M2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G042151 1.4 ENCODE dbSUPER 37.6 +1.6 1625 5.9 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D IKBKB AP3M2 ENSG00000254165 LOC101929897 POLB KAT6A DKK4 ENSG00000238966 PIR61234
GH08G042194 2 FANTOM5 Ensembl ENCODE dbSUPER 22.6 +44.3 44312 6.5 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC IKBKB ENSG00000254165 AP3M2 KAT6A POLB SMIM19 PLAT PIR61234
GH08G042139 1.3 ENCODE dbSUPER 33.6 -11.2 -11194 5.5 PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 SLC30A9 ZNF143 ZNF207 FOS DEK AP3M2 ENSG00000238966 KAT6A PLAT ENSG00000271938 ENSG00000261449
GH08G041986 1.4 Ensembl ENCODE dbSUPER 22.3 -165.5 -165469 1.8 HDAC1 ATF1 FOXA2 PKNOX1 ZBTB40 RAD21 ZNF121 SCRT2 ZBTB11 NFYC AP3M2 ENSG00000238966 KAT6A GC08P041904
GH08G042214 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +62.1 62065 1.6 PKNOX1 ATF1 SIN3A FEZF1 TCF12 ZNF121 GATA2 FOS NCOA1 MBD2 AP3M2 PLAT LOC101929897
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP3M2 on UCSC Golden Path with GeneCards custom track

Promoters for AP3M2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224035 154 1801 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 RCOR2

Genomic Location for AP3M2 Gene

Chromosome:
8
Start:
42,152,946 bp from pter
End:
42,171,673 bp from pter
Size:
18,728 bases
Orientation:
Plus strand

Genomic View for AP3M2 Gene

Genes around AP3M2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3M2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP3M2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3M2 Gene

Proteins for AP3M2 Gene

  • Protein details for AP3M2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53677-AP3M2_HUMAN
    Recommended name:
    AP-3 complex subunit mu-2
    Protein Accession:
    P53677
    Secondary Accessions:
    • B2RCR0
    • D3DSY2
    • Q7Z472

    Protein attributes for AP3M2 Gene

    Size:
    418 amino acids
    Molecular mass:
    46977 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for AP3M2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP3M2 Gene

Post-translational modifications for AP3M2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP3M2 Gene

Domains & Families for AP3M2 Gene

Suggested Antigen Peptide Sequences for AP3M2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53677

UniProtKB/Swiss-Prot:

AP3M2_HUMAN :
  • Belongs to the adaptor complexes medium subunit family.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP3M2: view

No data available for Gene Families for AP3M2 Gene

Function for AP3M2 Gene

Molecular function for AP3M2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with AP3M2: view

Animal Models for AP3M2 Gene

MGI Knock Outs for AP3M2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AP3M2 Gene

Localization for AP3M2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3M2 Gene

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP3M2 gene
Compartment Confidence
golgi apparatus 4
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AP3M2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0030119 AP-type membrane coat adaptor complex TAS 8076832
GO:0030131 clathrin adaptor complex IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
genes like me logo Genes that share ontologies with AP3M2: view

Pathways & Interactions for AP3M2 Gene

SuperPathways for AP3M2 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with AP3M2: view

Pathways by source for AP3M2 Gene

1 KEGG pathway for AP3M2 Gene

Gene Ontology (GO) - Biological Process for AP3M2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with AP3M2: view

No data available for SIGNOR curated interactions for AP3M2 Gene

Drugs & Compounds for AP3M2 Gene

No Compound Related Data Available

Transcripts for AP3M2 Gene

Unigene Clusters for AP3M2 Gene

Adaptor-related protein complex 3, mu 2 subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP3M2 Gene

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: - -
SP6: - - -
SP7:
SP8: - - -
SP9:
SP10:

Relevant External Links for AP3M2 Gene

GeneLoc Exon Structure for
AP3M2
ECgene alternative splicing isoforms for
AP3M2

Expression for AP3M2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP3M2 Gene

Protein differential expression in normal tissues from HIPED for AP3M2 Gene

This gene is overexpressed in Frontal cortex (18.4), Retina (11.9), Brain (10.1), and Fetal Brain (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP3M2 Gene



Protein tissue co-expression partners for AP3M2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP3M2 Gene:

AP3M2

SOURCE GeneReport for Unigene cluster for AP3M2 Gene:

Hs.654529

Evidence on tissue expression from TISSUES for AP3M2 Gene

  • Nervous system(4.8)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with AP3M2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP3M2 Gene

Orthologs for AP3M2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP3M2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP3M2 34 35
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3M2 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3M2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3M2 34 35
  • 92.74 (n)
cow
(Bos Taurus)
Mammalia AP3M2 34 35
  • 89.71 (n)
mouse
(Mus musculus)
Mammalia Ap3m2 34 16 35
  • 88.6 (n)
rat
(Rattus norvegicus)
Mammalia Ap3m2 34
  • 88.36 (n)
chicken
(Gallus gallus)
Aves AP3M2 34 35
  • 83.81 (n)
lizard
(Anolis carolinensis)
Reptilia AP3M2 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3m2 34
  • 77.83 (n)
Str.6024 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32423 34
zebrafish
(Danio rerio)
Actinopterygii ap3m2 34 35
  • 77.11 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7655 34
fruit fly
(Drosophila melanogaster)
Insecta cm 36 34 35
  • 65.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001484 34
  • 62.39 (n)
worm
(Caenorhabditis elegans)
Secernentea apm-3 35
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 35
  • 23 (a)
OneToMany
APM3 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ZIP4 34
  • 50.16 (n)
rice
(Oryza sativa)
Liliopsida Os05g0383100 34
  • 50.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3115 34
Species where no ortholog for AP3M2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP3M2 Gene

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

Paralogs for AP3M2 Gene

Paralogs for AP3M2 Gene

Pseudogenes.org Pseudogenes for AP3M2 Gene

genes like me logo Genes that share paralogs with AP3M2: view

Variants for AP3M2 Gene

Sequence variations from dbSNP and Humsavar for AP3M2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000094092 -- 42,165,220(+) GACAG(A/T)GTAGT intron-variant
rs1000140452 -- 42,165,702(+) CCTCA(A/G)GTGAG intron-variant, nc-transcript-variant
rs1000249424 -- 42,163,986(+) TGAGA(C/G)TTGTA intron-variant
rs1000330404 -- 42,151,795(+) CACAC(A/G)TTATC upstream-variant-2KB
rs1000359130 -- 42,153,087(+) GGGCG(C/G/T)TGAGA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Variation tolerance for AP3M2 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP3M2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP3M2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AP3M2 Gene

Disorders for AP3M2 Gene

Relevant External Links for AP3M2

Genetic Association Database (GAD)
AP3M2
Human Genome Epidemiology (HuGE) Navigator
AP3M2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3M2

No disorders were found for AP3M2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP3M2 Gene

Publications for AP3M2 Gene

  1. Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification. (PMID: 7601449) Koyama K. … Nakamura Y. (Genomics 1995) 2 3 4 64
  2. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R. … Kunugi H. (Neurosci. Res. 2009) 3 46 64
  3. Mutation screening of AP3M2 in Japanese epilepsy patients. (PMID: 17293072) Huang M.C. … Kojima T. (Brain Dev. 2007) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for AP3M2 Gene

Sources for AP3M2 Gene

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