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Aliases for AP3S2 Gene

Aliases for AP3S2 Gene

  • Adaptor Related Protein Complex 3 Sigma 2 Subunit 2 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
  • Adaptor-Related Protein Complex 3, Sigma 2 Subunit 2
  • Adapter-Related Protein Complex 3 Subunit Sigma-2 3
  • AP-3 Complex 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 , CIViC 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 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
GH15G089846 1.7 FANTOM5 Ensembl ENCODE dbSUPER 58 +44.6 44552 6.5 FEZF1 GATA2 FOS ZNF263 JUNB ZNF623 MAFF IKZF1 ZBTB33 KDM1A AP3S2 MESP1 MESP2 ANPEP PLIN1 WDR93 ZNF710 CIB1 MIR5094 LOC105370965
GH15G089855 1.3 ENCODE dbSUPER 72.8 +33.4 33420 10.6 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 YY1 SLC30A9 AP3S2 ARPIN RNU6-1111P RNU7-111P C15orf38-AP3S2 RPL36AP43 MESP2 MESP1 ZNF710 PLIN1
GH15G089827 1.6 FANTOM5 Ensembl ENCODE dbSUPER 59 +66.2 66174 1.7 ESRRA TAF1 ARID4B MAX RAD21 RARA YY1 ZNF121 POLR2A HNF4G AP3S2 ANPEP MESP1 ZNF710 CIB1 LOC105370965 MIR5094
GH15G089820 1.8 FANTOM5 Ensembl ENCODE dbSUPER 51.7 +71.5 71519 5.8 HDAC1 CREB3L1 TCF12 GATA2 FOS CEBPB ZEB2 NR2F2 ZNF579 NFIC AP3S2 ANPEP MESP1 ZNF710 CIB1 POLG SEMA4B LOC105370965 MIR5094
GH15G089898 1.3 FANTOM5 Ensembl ENCODE 57.3 -4.7 -4653 1.4 CTCF RB1 FEZF1 RAD21 RFX5 ZNF664 ZNF121 ZFHX2 EED SCRT2 AP3S2 ANPEP ARPIN GC15P089898 C15orf38-AP3S2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000080976 738 2201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

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

Post-translational modifications for AP3S2 Gene

  • Ubiquitination at posLast=1313
  • 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.

Gene Ontology (GO) - Molecular Function for AP3S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with AP3S2: view
genes like me logo Genes that share phenotypes with AP3S2: view

Animal Models for AP3S2 Gene

MGI Knock Outs for AP3S2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , 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
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 AP3S2 gene
Compartment Confidence
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for AP3S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030123 AP-3 adaptor complex IDA 9118953
GO:0030659 cytoplasmic vesicle membrane IEA --
genes like me logo Genes that share ontologies with AP3S2: view

Pathways & Interactions for AP3S2 Gene

SuperPathways for AP3S2 Gene

SuperPathway 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:0006810 transport IEA --
GO:0006886 intracellular protein transport TAS,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 AP3S2: view

No data available for SIGNOR curated interactions for AP3S2 Gene

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AP3S2 Gene



NURSA nuclear receptor signaling pathways regulating expression of AP3S2 Gene:

AP3S2

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.

Evidence on tissue expression from TISSUES for AP3S2 Gene

  • Nervous system(4.9)
  • Intestine(4.4)
  • Skin(4.1)
  • Lung(2.1)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia AP3S2 34
  • 99.31 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3S2 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3S2 34 35
  • 93.78 (n)
cow
(Bos Taurus)
Mammalia AP3S2 34 35
  • 93.44 (n)
rat
(Rattus norvegicus)
Mammalia Ap3s2 34
  • 93.44 (n)
mouse
(Mus musculus)
Mammalia Ap3s2 34 16 35
  • 91.02 (n)
chicken
(Gallus gallus)
Aves AP3S2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3s2 34
  • 77.72 (n)
Str.1103 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4289 34
zebrafish
(Danio rerio)
Actinopterygii ap3s2 34 35
  • 77.95 (n)
Dr.18325 34
fruit fly
(Drosophila melanogaster)
Insecta or 36 34 35
  • 70.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007522 34
  • 70.02 (n)
worm
(Caenorhabditis elegans)
Secernentea aps-3 34 35
  • 66.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APS3 35
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G50860 34
  • 55.69 (n)
rice
(Oryza sativa)
Liliopsida Os03g0228400 34
  • 52.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9680 35
  • 76 (a)
OneToOne
Species where no ortholog for AP3S2 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)
  • 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

Sequence variations from dbSNP and Humsavar for AP3S2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000019756 -- 89,891,660(+) GAGGG(-/A)AAAAA intron-variant
rs1000050564 -- 89,886,454(+) TTTTT(G/T)TTTCT intron-variant
rs1000141168 -- 89,832,450(+) ACAAA(A/G)AAAGG nc-transcript-variant, utr-variant-3-prime
rs1000162925 -- 89,857,524(+) TTATT(C/G)TGTTA intron-variant
rs1000230424 -- 89,841,648(+) AGAGA(C/T)GCCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv1678655 CNV deletion 17803354
esv2667255 CNV deletion 23128226
esv2750010 CNV deletion 23290073
esv3637203 CNV loss 21293372
esv3637204 CNV loss 21293372
esv3637205 CNV gain 21293372
nsv1661 CNV insertion 18451855
nsv570389 CNV loss 21841781

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)

Relevant External Links for AP3S2 Gene

Human Gene Mutation Database (HGMD)
AP3S2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP3S2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (PMID: 21874001) Kooner J.S. … Chambers J.C. (Nat. Genet. 2011) 3 46 64
  3. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C. … Sacco R.L. (Stroke 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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

Products for AP3S2 Gene

Sources for AP3S2 Gene

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