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] See more...

Aliases for AP3M2 Gene

Aliases for AP3M2 Gene

  • Adaptor Related Protein Complex 3 Subunit Mu 2 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 Mu 2 Subunit 2 3
  • Clathrin Coat Assembly Protein AP47 Homolog 2 3 4
  • HA1 47 KDa Subunit Homolog 2 3 4
  • AP-3 Complex Subunit Mu-2 3 4
  • Mu3B-Adaptin 3 4
  • P47B 3 4
  • Clathrin Assembly Protein Assembly Protein Complex 1 Medium Chain Homolog 2 3
  • Adapter-Related Protein Complex 3 Mu-2 Subunit 3
  • Adapter-Related Protein Complex 3 Subunit Mu-2 3
  • Adaptor-Related Protein Complex 3 Subunit Mu-2 4
  • 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
  • Epididymis Secretory Sperm Binding Protein 3
  • HA1 47kDA Subunit Homolog 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 Subunit Mu 2) is a Protein Coding gene. Diseases associated with AP3M2 include Farber Lipogranulomatosis and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Lysosome. An important paralog of this gene is AP3M1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for AP3M2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP3M2 Gene

Genomics for AP3M2 Gene

GeneHancer (GH) Regulatory Elements for AP3M2 Gene

Promoters and enhancers for AP3M2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP3M2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP3M2

Top Transcription factor binding sites by QIAGEN in the AP3M2 gene promoter:
  • c-Ets-1
  • E47
  • LCR-F1
  • MIF-1
  • Nkx6-1
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • SRY
  • YY1

Genomic Locations for AP3M2 Gene

Genomic Locations for AP3M2 Gene
chr8:42,152,946-42,171,673
(GRCh38/hg38)
Size:
18,728 bases
Orientation:
Plus strand
chr8:42,010,464-42,029,191
(GRCh37/hg19)
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

Gene Families for AP3M2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AP3M2 Gene

Blocks:
  • Clathrin adaptor complex, small chain
  • Clathrin adaptor complex, medium chain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AP3M2 Gene

GenScript: Design optimal peptide antigens:
  • P47B (AP3M2_HUMAN)

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

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.

Phenotypes From GWAS Catalog for AP3M2 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP3M2

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 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AP3M2 Gene

Pathways & Interactions for AP3M2 Gene

PathCards logo

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:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0048490 anterograde synaptic vesicle transport ISS --
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

mRNA/cDNA for AP3M2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP3M2

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

Expression for AP3M2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AP3M2 Gene



Protein tissue co-expression partners for AP3M2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP3M2 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3M2 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3M2 31 30
  • 92.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AP3M2 31 30
  • 89.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3m2 17 31 30
  • 88.6 (n)
rat
(Rattus norvegicus)
Mammalia Ap3m2 30
  • 88.36 (n)
chicken
(Gallus gallus)
Aves AP3M2 31 30
  • 83.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3M2 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3m2 30
  • 77.83 (n)
Str.6024 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.32423 30
zebrafish
(Danio rerio)
Actinopterygii ap3m2 31 30
  • 77.11 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7655 30
fruit fly
(Drosophila melanogaster)
Insecta cm 31 32 30
  • 65.3 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001484 30
  • 62.39 (n)
worm
(Caenorhabditis elegans)
Secernentea apm-3 31
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 31
  • 23 (a)
OneToMany
APM3 33
thale cress
(Arabidopsis thaliana)
eudicotyledons ZIP4 30
  • 50.16 (n)
rice
(Oryza sativa)
Liliopsida Os05g0383100 30
  • 50.28 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 70 (a)
OneToMany
Cin.3115 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3115 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for AP3M2: view image

Paralogs for AP3M2 Gene

Paralogs for AP3M2 Gene

(5) SIMAP similar genes for AP3M2 Gene using alignment to 9 proteins:

  • AP3M2_HUMAN
  • E5RGF3_HUMAN
  • E5RI83_HUMAN
  • E5RJ52_HUMAN
  • E7ER80_HUMAN
  • H0YAY4_HUMAN
  • H0YBA0_HUMAN
  • H0YBM0_HUMAN
  • Q7Z472_HUMAN

Pseudogenes.org Pseudogenes for AP3M2 Gene

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

Variants for AP3M2 Gene

Additional dbSNP identifiers (rs#s) for AP3M2 Gene

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)

Additional Variant Information for AP3M2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for AP3M2 Gene

Disorders for AP3M2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AP3M2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search AP3M2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AP3M2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AP3M2: view

No data available for 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 54
  2. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R … Kunugi H (Neuroscience research 2009) 3 41 54
  3. Mutation screening of AP3M2 in Japanese epilepsy patients. (PMID: 17293072) Huang MC … Kojima T (Brain & development 2007) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for AP3M2 Gene

Sources for AP3M2 Gene