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

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 Vesicle-mediated transport and Clathrin-mediated endocytosis. An important paralog of this gene is STON1-GTF2A1L.

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 for STON2 Gene

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 504.9 +0.6 626 3.1 EP300 NRF1 REST ZBTB10 ZBTB26 RFX1 HES1 MYC ZBTB7A CTBP1 STON2 GTF2A1 LINC02308 lnc-SEL1L-11
GH14J081422 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.8 +10.5 10487 6 NRF1 GTF2E2 ZIC2 ZBTB11 AFF1 MYC CTBP1 TAF9B MXI1 ZNF341 STON2 lnc-SEL1L-11 LINC02308 DYNLL1P2
GH14J081437 Enhancer 0.5 ENCODE 500.7 -1.1 -1067 0.2 EZH2 ZFHX2 EGR2 ZKSCAN8 BCL6B FOXA2 FOXA1 STON2 GTF2A1 LINC02308
GH14J081398 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.5 +35.7 35680 4.5 ZNF217 ZSCAN5C ZIC2 POLR2A REST RFX1 MEF2C MYC EP300 CTBP1 GTF2A1 STON2 LINC02308 piR-35031-017 hsa-miR-1273e-020
GH14J081415 Enhancer 0.8 ENCODE dbSUPER 7.7 +20.1 20100 1.1 CTCF GABPA SPI1 EHMT2 TAL1 ZFP36 L3MBTL2 BACH1 NR4A1 IKZF1 STON2 DYNLL1P2 lnc-SEL1L-11
- 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 UCSC Golden Path with GeneCards custom track

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
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