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Aliases for AP3S2 Gene

Aliases for AP3S2 Gene

  • Adaptor Related Protein Complex 3 Sigma 2 Subunit 2 3
  • Adaptor-Related Protein Complex 3, Sigma 2 Subunit 2 3
  • Adaptor Related Protein Complex 3, Sigma 2 Subunit 3 5
  • Adaptor-Related Protein Complex 3 Subunit Sigma-2 3 4
  • AP-3 Complex Subunit Sigma-3B 3 4
  • Sigma-Adaptin 3b 3 4
  • Sigma-3B-Adaptin 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Small 4, 22-KD 3
  • Adapter-Related Protein Complex 3 Subunit Sigma-2 3
  • Adaptor Complex Sigma3B 3
  • Sigma3B-Adaptin 4
  • Sigma3b 3
  • AP3S3 3

External Ids for AP3S2 Gene

Previous GeneCards Identifiers for AP3S2 Gene

  • GC15M086781
  • GC15M083742
  • GC15M087964
  • GC15M088106
  • GC15M088177
  • GC15M090373
  • GC15M066486

Summaries for AP3S2 Gene

GeneCards Summary for AP3S2 Gene

AP3S2 (Adaptor Related Protein Complex 3 Sigma 2 Subunit) is a Protein Coding gene. Among its related pathways are Lysosome. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP3S1.

UniProtKB/Swiss-Prot for AP3S2 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.

Gene Wiki entry for AP3S2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3S2 Gene

Genomics for AP3S2 Gene

Regulatory Elements for AP3S2 Gene

Enhancers for AP3S2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AP3S2 on UCSC Golden Path with GeneCards custom track

Promoters for AP3S2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP3S2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP3S2 Gene

Chromosome:
15
Start:
89,830,599 bp from pter
End:
89,894,638 bp from pter
Size:
64,040 bases
Orientation:
Minus strand

Genomic View for AP3S2 Gene

Genes around AP3S2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3S2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP3S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3S2 Gene

Proteins for AP3S2 Gene

  • Protein details for AP3S2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59780-AP3S2_HUMAN
    Recommended name:
    AP-3 complex subunit sigma-2
    Protein Accession:
    P59780
    Secondary Accessions:
    • B2R677
    • B4DGQ3
    • O09077
    • O09149
    • Q53H83
    • Q99589

    Protein attributes for AP3S2 Gene

    Size:
    193 amino acids
    Molecular mass:
    22017 Da
    Quaternary structure:
    • 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). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By similarity).

    Alternative splice isoforms for AP3S2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP3S2 Gene

Proteomics data for AP3S2 Gene at MOPED

Post-translational modifications for AP3S2 Gene

  • Ubiquitination at Lys 13
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP3S2 Gene

Domains & Families for AP3S2 Gene

Graphical View of Domain Structure for InterPro Entry

P59780

UniProtKB/Swiss-Prot:

AP3S2_HUMAN :
  • Belongs to the adaptor complexes small subunit family.
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with AP3S2: view

No data available for Gene Families for AP3S2 Gene

Function for AP3S2 Gene

Molecular function for AP3S2 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 AP3S2: view

Animal Models for AP3S2 Gene

MGI Knock Outs for AP3S2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AP3S2 Gene

Localization for AP3S2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3S2 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
Jensen Localization Image for AP3S2 Gene COMPARTMENTS Subcellular localization image for AP3S2 gene
Compartment Confidence
golgi apparatus 5

Gene Ontology (GO) - Cellular Components for AP3S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:1904115 axon cytoplasm ISS --
genes like me logo Genes that share ontologies with AP3S2: view

Pathways & Interactions for AP3S2 Gene

SuperPathways for AP3S2 Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with AP3S2: view

Pathways by source for AP3S2 Gene

1 KEGG pathway for AP3S2 Gene

Gene Ontology (GO) - Biological Process for AP3S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0048490 anterograde synaptic vesicle transport ISS --
genes like me logo Genes that share ontologies with AP3S2: view

No data available for SIGNOR curated interactions for AP3S2 Gene

Drugs & Compounds for AP3S2 Gene

No Compound Related Data Available

Transcripts for AP3S2 Gene

Unigene Clusters for AP3S2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for AP3S2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - -
SP7: - - -
SP8: -
SP9:

Relevant External Links for AP3S2 Gene

GeneLoc Exon Structure for
AP3S2
ECgene alternative splicing isoforms for
AP3S2

Expression for AP3S2 Gene

mRNA expression in normal human tissues for AP3S2 Gene

Protein differential expression in normal tissues from HIPED for AP3S2 Gene

This gene is overexpressed in Bone (25.0), Lung (12.7), Pancreas (7.4), and Islet of Langerhans (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3S2 Gene



SOURCE GeneReport for Unigene cluster for AP3S2 Gene Hs.632161

mRNA Expression by UniProt/SwissProt for AP3S2 Gene

P59780-AP3S2_HUMAN
Tissue specificity: Present in all adult tissues examined.
genes like me logo Genes that share expression patterns with AP3S2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for AP3S2 Gene

Orthologs for AP3S2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP3S2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP3S2 35
  • 93.44 (n)
  • 99.48 (a)
AP3S2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3S2 35
  • 93.78 (n)
  • 100 (a)
AP3S2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3s2 35
  • 91.02 (n)
  • 100 (a)
Ap3s2 16
Ap3s2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP3S2 35
  • 99.31 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Ap3s2 35
  • 93.44 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia AP3S2 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3S2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3s2 35
  • 77.72 (n)
  • 86.01 (a)
Str.1103 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4289 35
zebrafish
(Danio rerio)
Actinopterygii ap3s2 35
  • 77.95 (n)
  • 91.15 (a)
Dr.18325 35
ap3s2 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta or 37
  • 78 (a)
or 35
  • 70.15 (n)
  • 78.57 (a)
or 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007522 35
  • 70.02 (n)
  • 76.72 (a)
worm
(Caenorhabditis elegans)
Secernentea aps-3 35
  • 66.49 (n)
  • 75.27 (a)
aps-3 36
  • 73 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS3 36
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G50860 35
  • 55.69 (n)
  • 50 (a)
rice
(Oryza sativa)
Liliopsida Os03g0228400 35
  • 52.87 (n)
  • 50.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9680 36
  • 76 (a)
OneToOne
Species with no ortholog for AP3S2:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 AP3S2 Gene

ENSEMBL:
Gene Tree for AP3S2 (if available)
TreeFam:
Gene Tree for AP3S2 (if available)

Paralogs for AP3S2 Gene

Paralogs for AP3S2 Gene

genes like me logo Genes that share paralogs with AP3S2: view

Variants for AP3S2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AP3S2 Gene

Variant ID Type Subtype PubMed ID
nsv1661 CNV Insertion 18451855
esv2667255 CNV Deletion 23128226
esv1678655 CNV Deletion 17803354
esv2750010 CNV Deletion 23290073

Variation tolerance for AP3S2 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.72% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Relevant External Links for AP3S2 Gene

Disorders for AP3S2 Gene

Relevant External Links for AP3S2

Genetic Association Database (GAD)
AP3S2
Human Genome Epidemiology (HuGE) Navigator
AP3S2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3S2

No disorders were found for AP3S2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP3S2 Gene

Publications for AP3S2 Gene

  1. AP-3: an adaptor-like protein complex with ubiquitous expression. (PMID: 9118953) Dell'Angelica E.C. … Bonifacino J.S. (EMBO J. 1997) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  4. Genome-wide association study identifies three novel loci for type 2 diabetes. (PMID: 23945395) Hara K. … Kadowaki T. (Hum. Mol. Genet. 2014) 3
  5. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. (PMID: 24509480) . … Morris A.P. (Nat. Genet. 2014) 3

Products for AP3S2 Gene

Sources for AP3S2 Gene

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