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 ... See more...

Aliases for STON2 Gene

Aliases for STON2 Gene

  • Stonin 2 2 3 5
  • STN2 2 3 4
  • Stonin-2 3 4
  • STNB2 2 3
  • STNB 3 4
  • Stoned B Homolog 2 (Drosophila) 2
  • Stoned B Homolog 2 3
  • Stoned B 4
  • STON2 5

External Ids for STON2 Gene

Previous GeneCards Identifiers for STON2 Gene

  • GC14M080807
  • GC14M081736
  • GC14M061904

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. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. An important paralog of this gene is STON1.

UniProtKB/Swiss-Prot Summary for STON2 Gene

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

Additional gene information for STON2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STON2 Gene

Genomics for STON2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STON2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J081434 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.9 +0.6 626 3.1 GATAD2A PRDM10 REST RFX1 LEF1 IKZF1 NFKBIZ ZNF692 TARDBP MTA2 STON2 GTF2A1 LINC02308 lnc-SEL1L-11
GH14J081422 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.8 +10.5 10487 6 LEF1 IKZF1 JUND DDX20 MTA2 ZIC2 PKNOX1 MTA1 BRD9 DPF2 STON2 lnc-SEL1L-11 LINC02308 DYNLL1P2 GTF2A1
GH14J081437 Enhancer 0.5 ENCODE 600.7 -1.1 -1067 0.2 FOXA1 ZFHX2 EGR2 BCL6B ZKSCAN8 STON2 GTF2A1 LINC02308 SEL1L
GH14J081398 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.5 +35.7 35680 4.5 CEBPG CREB1 LEF1 IKZF1 JUND RFX1 ZIC2 PKNOX1 REST BRD9 GTF2A1 STON2 LINC02308 piR-35031-017 hsa-miR-1273e-020
GH14J081415 Enhancer 0.7 ENCODE dbSUPER 7.7 +20.1 20100 1.1 IKZF1 ETV6 HMBOX1 NR2C2 GABPA EHMT2 SPI1 TAL1 L3MBTL2 NR4A1 STON2 DYNLL1P2 lnc-SEL1L-11 GTF2A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STON2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STON2

Top Transcription factor binding sites by QIAGEN in the STON2 gene promoter:
  • Arnt
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for STON2 Gene

Genomic Locations for STON2 Gene
chr14:81,260,650-81,436,465
(GRCh38/hg38)
Size:
175,816 bases
Orientation:
Minus strand
chr14:81,727,000-81,902,809
(GRCh37/hg19)
Size:
175,810 bases
Orientation:
Minus strand

Genomic View for STON2 Gene

Genes around STON2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STON2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STON2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK57558.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAK76362.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAD92185.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Post-translational modifications for STON2 Gene

No data available for DME Specific Peptides for STON2 Gene

Domains & Families for STON2 Gene

Gene Families for STON2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for STON2 Gene

Suggested Antigen Peptide Sequences for STON2 Gene

GenScript: Design optimal peptide antigens:
  • Stonin 2 (Q17R23_HUMAN)
  • STON2 protein (Q6NT15_HUMAN)
  • Stonin 2 (Q6NT31_HUMAN)
  • Stonin 2 (Q6NT53_HUMAN)
  • Stoned B (STON2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXE9

UniProtKB/Swiss-Prot:

STON2_HUMAN :
  • 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.
  • Belongs to the Stoned B family.
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.
Family:
  • Belongs to the Stoned B family.
genes like me logo Genes that share domains with STON2: view

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.

Phenotypes From GWAS Catalog for STON2 Gene

Gene Ontology (GO) - Molecular Function for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11454741
GO:0035615 clathrin adaptor activity IBA 21873635
genes like me logo Genes that share ontologies with STON2: view
genes like me logo Genes that share phenotypes with STON2: view

Animal Models for STON2 Gene

MGI Knock Outs for STON2:

Animal Model Products

CRISPR Products

miRNA for STON2 Gene

miRTarBase miRNAs that target STON2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STON2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
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 STON2 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0008021 synaptic vesicle IEA,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with STON2: view

Pathways & Interactions for STON2 Gene

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

Gene Ontology (GO) - Biological Process for STON2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006897 endocytosis IEA --
GO:0016192 vesicle-mediated transport IBA 21873635
GO:0030100 regulation of endocytosis IBA,ISS 14726597
GO:0036465 synaptic vesicle recycling IEA --
genes like me logo Genes that share ontologies with STON2: view

No data available for SIGNOR curated interactions for STON2 Gene

Drugs & Compounds for STON2 Gene

(1) Drugs for STON2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with STON2: view

Transcripts for STON2 Gene

mRNA/cDNA for STON2 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 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 STON2

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

Expression for STON2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STON2 Gene

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

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.6), Brain - Amygdala (x4.3), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for STON2 Gene

This gene is overexpressed in Platelet (30.0), Peripheral blood mononuclear cells (19.6), and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STON2 Gene



Protein tissue co-expression partners for STON2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STON2

SOURCE GeneReport for Unigene cluster for STON2 Gene:

Hs.14248

mRNA Expression by UniProt/SwissProt for STON2 Gene:

Q8WXE9-STON2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for STON2 Gene

  • Nervous system(4.6)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with STON2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for STON2 Gene

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 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STON2 30 31
  • 89.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ston2 30
  • 85.87 (n)
Mouse
(Mus musculus)
Mammalia Ston2 30 17 31
  • 85.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STON2 30 31
  • 84.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STON2 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STON2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves STON2 30 31
  • 72.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STON2 31
  • 64 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ston2 30 31
  • 58.62 (n)
OneToOne
wufc70h07 30
Fruit Fly
(Drosophila melanogaster)
Insecta stnB 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-41 31
  • 11 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5149 31
  • 37 (a)
OneToMany
Species where no ortholog for STON2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STON2: view image

Paralogs for STON2 Gene

Paralogs for STON2 Gene

(2) SIMAP similar genes for STON2 Gene using alignment to 7 proteins:

  • STON2_HUMAN
  • G3V322_HUMAN
  • H0YJ05_HUMAN
  • Q17R23_HUMAN
  • Q6NT15_HUMAN
  • Q6NT31_HUMAN
  • Q6NT53_HUMAN
genes like me logo Genes that share paralogs with STON2: view

Variants for STON2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STON2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs2241621 - p.Ser851Ala
rs34323725 - p.Arg646His
rs35689202 - p.Thr694Ala
rs3813535 - p.Ser307Pro

Additional dbSNP identifiers (rs#s) for STON2 Gene

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

Variant ID Type Subtype PubMed ID
dgv3802n54 CNV loss 21841781
dgv61n73 CNV deletion 24416366
esv1001220 CNV insertion 20482838
esv1012064 CNV insertion 17803354
esv23176 CNV loss 19812545
esv2664662 CNV deletion 23128226
esv2748931 CNV deletion 23290073
esv2748932 CNV deletion 23290073
esv2748933 CNV deletion 23290073
esv3306705 CNV mobile element insertion 20981092
esv3309477 CNV mobile element insertion 20981092
esv3406308 CNV insertion 20981092
esv3408084 CNV duplication 20981092
esv3433531 CNV duplication 20981092
esv3551849 CNV deletion 23714750
esv3635076 CNV gain 21293372
esv3635083 CNV loss 21293372
esv3635086 CNV loss 21293372
esv3635087 CNV loss 21293372
esv6915 CNV loss 19470904
nsv1070230 CNV deletion 25765185
nsv1112272 CNV deletion 24896259
nsv1118538 CNV duplication 24896259
nsv1139936 CNV deletion 24896259
nsv476202 CNV novel sequence insertion 20440878
nsv510645 CNV deletion 20534489
nsv832841 CNV gain 17160897
nsv958796 CNV deletion 24416366
nsv974356 CNV duplication 23825009
nsv976359 CNV duplication 23825009

Variation tolerance for STON2 Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.00; 96.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STON2 Gene

Human Gene Mutation Database (HGMD)
STON2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STON2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STON2 Gene

Disorders for STON2 Gene

No disorders were found for STON2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 JA … Bonifacino JS (The Journal of cell biology 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 reports 2001) 2 3 4
  3. CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process. (PMID: 21102408) Granata A … Warner TT (The EMBO journal 2011) 3 4
  4. Stonins--specialized adaptors for synaptic vesicle recycling and beyond? (PMID: 19732400) Maritzen T … Haucke V (Traffic (Copenhagen, Denmark) 2010) 3 23
  5. Structure of the Eps15-stonin2 complex provides a molecular explanation for EH-domain ligand specificity. (PMID: 18200045) Rumpf J … Groemping Y (The EMBO journal 2008) 3 4

Products for STON2 Gene

Sources for STON2 Gene