ENSMUSG00000020961


Mus musculus

Features
Gene ID: ENSMUSG00000020961
  
Biological name :Ston2
  
Synonyms : Q8BZ60 / Ston2 / Stonin-2
  
Possible biological names infered from orthology : Q8WXE9
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: D3
Gene start: 91633009
Gene end: 91788387
  
Corresponding Affymetrix probe sets: 10401891 (MoGene1.0st)   1435657_at (Mouse Genome 430 2.0 Array)   1459153_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000128561
Ensembl peptide - ENSMUSP00000131098
Ensembl peptide - ENSMUSP00000053908
Ensembl peptide - ENSMUSP00000126429
NCBI entrez gene - 108800     See in Manteia.
MGI - MGI:1918272
RefSeq - XM_011243984
RefSeq - XM_006515376
RefSeq - XM_006515378
RefSeq - XM_006515379
RefSeq - XM_006515380
RefSeq - XM_011243982
RefSeq - NM_175367
RefSeq - XM_006515373
RefSeq - XM_006515374
RefSeq Peptide - NP_780576
swissprot - E9Q9N5
swissprot - E9PYZ0
swissprot - E9PXP7
swissprot - Q8BZ60
Ensembl - ENSMUSG00000020961
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ston2ENSDARG00000057452Danio rerio
 STON2ENSGALG00000010579Gallus gallus
 STON2ENSG00000140022Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ston1 / Q8CDJ8 / Stonin-1 / Q9Y6Q2* / STON1-GTF2A1L* / STON1-GTF2A1L readthrough*ENSMUSG0000003385527


Protein motifs (from Interpro)
Interpro ID Name
 IPR012320  Stonin homology
 IPR017110  Stonin
 IPR022699  Stonin-2, N-terminal
 IPR028565  Mu homology domain
 IPR031228  Stonin-2
 IPR036168  AP-2 complex subunit mu, C-terminal superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007268 chemical synaptic transmission IC
 biological_processGO:0030100 regulation of endocytosis IEA
 biological_processGO:0036465 synaptic vesicle recycling IEA
 biological_processGO:0048488 synaptic vesicle endocytosis IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0008021 synaptic vesicle IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030136 clathrin-coated vesicle IDA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002761 abnormal hippocampal mossy fiber morphology "absence or misprojection of axons of neuronal cells in the dentate gyrus" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:4978]
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Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0002919 enhanced paired-pulse facilitation "increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003635 abnormal synaptic transmission "defect in the communication from a neuron to a target across a synapse " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0004770 abnormal synaptic vesicle recycling "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm2.1Brn/Cdkn2atm2.1Brn,Hdac2tm1.2Rdp/Hdac2tm1.2Rdp
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026452 Syt2 / synaptotagmin II / Q8N9I0* / synaptotagmin 2*  / complex / reaction
 ENSMUSG00000062542 Syt9 / Q9R0N9 / Synaptotagmin-9 / Q86SS6*  / reaction / complex
 ENSMUSG00000035864 Syt1 / P46096 / synaptotagmin I / P21579* / synaptotagmin 1*  / reaction / complex
 ENSMUSG00000026849 Tor1a / Q9ER39 / torsin family 1, member A (torsin A) / O14656* / torsin family 1 member A*  / complex / reaction






 

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