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Aliases for STON2 Gene

Aliases for STON2 Gene

  • Stonin 2 2 3
  • STN2 3 4 6
  • STNB 3 4 6
  • Stoned B Homolog 2 (Drosophila) 2
  • Homolog Of Stoned B 3
  • Stoned B Homolog 2 3
  • Stonin-2 3
  • Stoned B 4
  • STNB2 3

External Ids for STON2 Gene

Summaries for STON2 Gene

Entrez Gene Summary for STON2 Gene

  • This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for STON2 Gene

STON2 (Stonin 2) is a Protein Coding gene. An important paralog of this gene is GTF2A1L.

UniProtKB/Swiss-Prot for STON2 Gene

  • Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STON2 Gene

Genomics for STON2 Gene

Genomic Location for STON2 Gene

Start:
81,260,650 bp from pter
End:
81,436,465 bp from pter
Size:
175,816 bases
Orientation:
Minus strand

Genomic View for STON2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STON2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STON2 Gene

Regulatory Elements for STON2 Gene

Proteins for STON2 Gene

  • Protein details for STON2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXE9-STON2_HUMAN
    Recommended name:
    Stonin-2
    Protein Accession:
    Q8WXE9
    Secondary Accessions:
    • G3V2T7
    • Q17R24
    • Q59H11
    • Q6NT47
    • Q96RI7
    • Q96RU6

    Protein attributes for STON2 Gene

    Size:
    905 amino acids
    Molecular mass:
    101165 Da
    Quaternary structure:
    • Interacts with the second C2 domain of synaptotagmins SYT1 and SYT2. Interacts with EPS15, EPS15R and ITSN1. Interacts indirectly with the AP-2 adapter complex. Interacts with TOR1A and COPS4; the interaction controls STON2 protein stability.
    SequenceCaution:
    • Sequence=AAK57558.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK57558.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAK76362.1; Type=Frameshift; Positions=122; Evidence={ECO:0000305}; Sequence=BAD92185.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for STON2 Gene

    Alternative splice isoforms for STON2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STON2 Gene

Proteomics data for STON2 Gene at MOPED

Post-translational modifications for STON2 Gene

Other Protein References for STON2 Gene

No data available for DME Specific Peptides for STON2 Gene

Domains for STON2 Gene

Protein Domains for STON2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

STON2_HUMAN
Domain:
  • The Asn-Pro-Phe (NPF) motifs, which are found in proteins involved in the endocytic pathway, mediate the interaction with the EH domain of SYT1, SYT2, EPS15, EPS15R and ITSN1:
    • Q8WXE9
  • Contains 1 MHD (mu homology) domain.:
    • Q8WXE9
  • Contains 1 SHD (stonin homology) domain.:
    • Q8WXE9
Family:
  • Belongs to the Stoned B family.:
    • Q8WXE9
genes like me logo Genes that share domains with STON2: view

No data available for Gene Families for STON2 Gene

Function for STON2 Gene

Molecular function for STON2 Gene

UniProtKB/Swiss-Prot Function: Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating.

Gene Ontology (GO) - Molecular Function for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11454741
genes like me logo Genes that share ontologies with STON2: view

Phenotypes for STON2 Gene

MGI mutant phenotypes for STON2:
inferred from 1 alleles
GenomeRNAi human phenotypes for STON2:
genes like me logo Genes that share phenotypes with STON2: view

Animal Models for STON2 Gene

MGI Knock Outs for STON2:

miRNA for STON2 Gene

miRTarBase miRNAs that target STON2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for STON2 Gene

Localization for STON2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STON2 Gene

Cytoplasm. Membrane. Cell junction, synapse, synaptosome. Note=Some fraction is membrane-associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STON2 Gene COMPARTMENTS Subcellular localization image for STON2 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0008021 synaptic vesicle IEA --
GO:0030054 cell junction IEA --
GO:0030131 clathrin adaptor complex IEA --
genes like me logo Genes that share ontologies with STON2: view

Pathways for STON2 Gene

SuperPathways for STON2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis --
GO:0016192 vesicle-mediated transport --
GO:0030100 regulation of endocytosis ISS 14726597
genes like me logo Genes that share ontologies with STON2: view

No data available for Pathways by source for STON2 Gene

Compounds for STON2 Gene

(1) Novoseek inferred chemical compound relationships for STON2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 14.1 1
genes like me logo Genes that share compounds with STON2: view

Transcripts for STON2 Gene

Unigene Clusters for STON2 Gene

Stonin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STON2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b
SP1: - - -
SP2: -
SP3:

Relevant External Links for STON2 Gene

GeneLoc Exon Structure for
STON2
ECgene alternative splicing isoforms for
STON2

Expression for STON2 Gene

mRNA expression in normal human tissues for STON2 Gene

mRNA differential expression in normal tissues according to GTEx for STON2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (4.6), Brain - Amygdala (4.3), and Brain - Nucleus accumbens (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STON2 Gene

SOURCE GeneReport for Unigene cluster for STON2 Gene Hs.14248

mRNA Expression by UniProt/SwissProt for STON2 Gene

Q8WXE9-STON2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with STON2: view

Orthologs for STON2 Gene

This gene was present in the common ancestor of animals.

Orthologs for STON2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STON2 36
  • 99.49 (n)
  • 99.13 (a)
STON2 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STON2 36
  • 84.71 (n)
  • 85.99 (a)
STON2 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STON2 36
  • 89.3 (n)
  • 91.09 (a)
STON2 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ston2 36
  • 85.38 (n)
  • 88.75 (a)
Ston2 16
Ston2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STON2 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STON2 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ston2 36
  • 85.87 (n)
  • 88.41 (a)
chicken
(Gallus gallus)
Aves STON2 36
  • 72.14 (n)
  • 73.19 (a)
STON2 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STON2 37
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ston2 36
  • 58.62 (n)
  • 54.67 (a)
ston2 37
  • 47 (a)
OneToOne
wufc70h07 36
fruit fly
(Drosophila melanogaster)
Insecta stnB 37
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-41 37
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5149 37
  • 37 (a)
OneToMany
Species with no ortholog for STON2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for STON2 Gene

ENSEMBL:
Gene Tree for STON2 (if available)
TreeFam:
Gene Tree for STON2 (if available)

Paralogs for STON2 Gene

Paralogs for STON2 Gene

Selected SIMAP similar genes for STON2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with STON2: view

Variants for STON2 Gene

Sequence variations from dbSNP and Humsavar for STON2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs13148 -- 81,332,979(-) GTTGG(C/T)GCTGG intron-variant
rs756422 -- 81,373,971(-) TCCTA(A/G)ATACA intron-variant
rs756423 -- 81,373,912(-) TTTCA(A/G)ACCAC intron-variant
rs756424 -- 81,373,865(-) ATTTG(G/T)GGTTA intron-variant
rs798871 -- 81,382,603(+) CGCAG(C/G)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STON2 Gene

Variant ID Type Subtype PubMed ID
nsv832841 CNV Gain 17160897
esv2748931 CNV Deletion 23290073
esv2748932 CNV Deletion 23290073
esv1001220 CNV Insertion 20482838
esv270981 CNV Insertion 20981092
esv273749 CNV Insertion 20981092
esv1012064 CNV Insertion 17803354
nsv902119 CNV Loss 21882294

Relevant External Links for STON2 Gene

HapMap Linkage Disequilibrium report
STON2
Human Gene Mutation Database (HGMD)
STON2

Disorders for STON2 Gene

No disorders were found for STON2 Gene.

No data available for UniProtKB/Swiss-Prot for STON2 Gene

Publications for STON2 Gene

  1. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PMID: 11381094) Martina J.A. … Bonifacino J.S. (J. Cell Biol. 2001) 2 3 4 23
  2. Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. (PMID: 11454741) Walther K. … Haucke V. (EMBO Rep. 2001) 2 3 4
  3. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  4. Structure of the Eps15-stonin2 complex provides a molecular explanation for EH-domain ligand specificity. (PMID: 18200045) Rumpf J. … Groemping Y. (EMBO J. 2008) 3 4
  5. Stonin 2 is an AP-2-dependent endocytic sorting adaptor for synaptotagmin internalization and recycling. (PMID: 16459302) Diril M.K. … Haucke V. (Dev. Cell 2006) 3 23

Products for STON2 Gene

Sources for STON2 Gene

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