• Gene id: 85439

Gene Summary

• Gene Symbol: STON2   Gene   UCSC   Ensembl
• Aliases: STN2, STNB, STNB2
• Gene name: stonin 2
• Alternate names: stonin-2, stoned B homolog 2,
• Gene location: 14q31.1 (81436464: 81260649)     Exons: 13     NC_000014.9
• Gene summary(Entrez): 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. T
• OMIM: 603487

Protein Summary

• Protein general information: Q8WXE9  
  • Name: Stonin 2 (Stoned B)
  • Length: 905  
  • Mass: 101165
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MTTLDHVIATHQSEWVSFNEEPPFPAHSQGGTEEHLPGLSSSPDQSESSSGENHVVDGGSQDHSHSEQDDSSEKM
  GLISEAASPPGSPEQPPPDLASAISNWVQFEDDTPWASTSPPHQETAETALPLTMPCWTCPSFDSLGRCPLTSES
  SWTTHSEDTSSPSFGCSYTDLQLINAEEQTSGQASGADSTDNSSSLQEDEEVEMEAISWQASSPAMNGHPAPPVT
  SARFPSWVTFDDNEVSCPLPPVTSPLKPNTPPSASVIPDVPYNSMGSFKKRDRPKSTLMNFSKVQKLDISSLNRT
  PSVTEASPWRATNPFLNETLQDVQPSPINPFSAFFEEQERRSQNSSISSTTGKSQRDSLIVIYQDAISFDDSSKT
  QSHSDAVEKLKQLQIDDPDHFGSATLPDDDPVAWIELDAHPPGSARSQPRDGWPMMLRIPEKKNIMSSRHWGPIF
  VKLTDTGYLQLYYEQGLEKPFREFKLEICHEISEPRLQNYDENGRIHSLRIDRVTYKEKKKYQPKPAVAHTAERE
  QVIKLGTTNYDDFLSFIHAVQDRLMDLPVLSMDLSTVGLNYLEEEITVDVRDEFSGIVSKGDNQILQHHVLTRIH
  ILSFLSGLAECRLGLNDILVKGNEIVLRQDIMPTTTTKWIKLHECRFHGCVDEDVFHNSRVILFNPLDACRFELM
  RFRTVFAEKTLPFTLRTATSVNGAEVEVQSWLRMSTGFSANRDPLTQVPCENVMIRYPVPSEWVKNFRRESVLGE
  KSLKAKVNRGASFGSTSVSGSEPVMRVTLGTAKYEHAFNSIVWRINRLPDKNSASGHPHCFFCHLELGSDREVPS
  RFANHVNVEFSMPTTSASKASVRSISVEDKTDVRKWVNYSAHYSYQVALGSIWLMLPTPFVHPTTLPLLFLLAML
  TMFAW

• Structural information:
  • Protein Domains: (427..56-)
    (/note="SHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00403-)
    (568..87-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR028565  IPR012320  IPR031228  IPR017110   IPR022699  
  • Prosite: PS51072 PS51070
  • PDB: 2JXC
  • PDBsum: 2JXC
  • STRING: ENSP00000450857
• Other Databases: GeneCards:  STON2  Malacards:  STON2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0048488	synaptic vesicle endocytosis	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036465	synaptic vesicle recycling	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030100	regulation of endocytosis	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq