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    Ston2 stonin 2 [ Mus musculus (house mouse) ]

    Gene ID: 108800, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Ston2provided by MGI
    Official Full Name
    stonin 2provided by MGI
    Primary source
    MGI:MGI:1918272
    See related
    Ensembl:ENSMUSG00000020961 AllianceGenome:MGI:1918272
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm8378; EG666955; 4933401N24Rik
    Summary
    Predicted to enable clathrin adaptor activity. Involved in regulation of endocytosis. Acts upstream of or within hematopoietic progenitor cell differentiation. Located in clathrin-coated vesicle and synaptic vesicle. Orthologous to human STON2 (stonin 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 3.1), ovary adult (RPKM 2.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 D3; 12 45.02 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (91599686..91753237, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (91633009..91786436, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene thyroid stimulating hormone receptor Neighboring gene predicted gene, 40541 Neighboring gene STARR-seq mESC enhancer starr_32930 Neighboring gene STARR-seq mESC enhancer starr_32931 Neighboring gene general transcription factor II A, 1 Neighboring gene STARR-seq mESC enhancer starr_32932 Neighboring gene predicted gene, 25776 Neighboring gene STARR-seq mESC enhancer starr_32934 Neighboring gene VISTA enhancer mm815 Neighboring gene ragulator complex protein LAMTOR2 pseudogene Neighboring gene predicted gene, 16876 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:92984674-92984783 Neighboring gene STARR-positive B cell enhancer ABC_E8496 Neighboring gene predicted gene, 34718 Neighboring gene STARR-positive B cell enhancer ABC_E5346 Neighboring gene STARR-positive B cell enhancer ABC_E308 Neighboring gene sel-1 suppressor of lin-12-like (C. elegans) Neighboring gene signal recognition particle receptor ('docking protein') pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Overlapping functions of stonin 2 and SV2 in sorting of the calcium sensor synaptotagmin 1 to synaptic vesicles. Kaempf N, et al. Proc Natl Acad Sci U S A, 2015 Jun 9. PMID 26015569, Free PMC Article
    2. Compromised fidelity of endocytic synaptic vesicle protein sorting in the absence of stonin 2. Kononenko NL, et al. Proc Natl Acad Sci U S A, 2013 Feb 5. PMID 23345427, Free PMC Article
    3. Functional dissection of the interactions of stonin 2 with the adaptor complex AP-2 and synaptotagmin. Walther K, et al. Proc Natl Acad Sci U S A, 2004 Jan 27. PMID 14726597, Free PMC Article
    4. Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Nagamachi A, et al. Cancer Cell, 2013 Sep 9. PMID 24029230
    5. Global discovery of erythroid long noncoding RNAs reveals novel regulators of red cell maturation. Alvarez-Dominguez JR, et al. Blood, 2014 Jan 23. PMID 24200680, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within chemical synaptic transmission IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stonin-2
    Names
    stoned B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001403574.1 → NP_001390503.1  stonin-2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC154375, AC154709
      UniProtKB/Swiss-Prot
      A2RTJ7, Q8BZ60

    2. NM_001403575.1 → NP_001390504.1  stonin-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC154375, AC154709

    3. NM_175367.7 → NP_780576.1  stonin-2 isoform 1

      See identical proteins and their annotated locations for NP_780576.1

      Status: VALIDATED

      Source sequence(s)
      AC154375, AC154709
      Consensus CDS
      CCDS26090.1
      UniProtKB/Swiss-Prot
      A2RTJ7, Q8BZ60
      UniProtKB/TrEMBL
      E9PXP7
      Related
      ENSMUSP00000053908.8, ENSMUST00000052969.15
      Conserved Domains (2) summary
      cd09263
      Location:556 → 873
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 337
      Stonin2_N; Stonin 2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      91599686..91753237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515373.5 → XP_006515436.1  stonin-2 isoform X1

      See identical proteins and their annotated locations for XP_006515436.1

      UniProtKB/Swiss-Prot
      A2RTJ7, Q8BZ60
      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:556 → 873
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 337
      Stonin2_N; Stonin 2

    2. XM_011243982.3 → XP_011242284.1  stonin-2 isoform X1

      See identical proteins and their annotated locations for XP_011242284.1

      UniProtKB/Swiss-Prot
      A2RTJ7, Q8BZ60
      UniProtKB/TrEMBL
      E9PXP7
      Related
      ENSMUSP00000131098.2, ENSMUST00000164713.8
      Conserved Domains (2) summary
      cd09263
      Location:556 → 873
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 337
      Stonin2_N; Stonin 2

    3. XM_006515379.5 → XP_006515442.1  stonin-2 isoform X3

      See identical proteins and their annotated locations for XP_006515442.1

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:430 → 747
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 211
      Stonin2_N; Stonin 2

    4. XM_006515380.4 → XP_006515443.1  stonin-2 isoform X3

      See identical proteins and their annotated locations for XP_006515443.1

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:430 → 747
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 211
      Stonin2_N; Stonin 2

    5. XM_006515378.5 → XP_006515441.1  stonin-2 isoform X3

      See identical proteins and their annotated locations for XP_006515441.1

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:430 → 747
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 211
      Stonin2_N; Stonin 2

    6. XM_006515375.5 → XP_006515438.1  stonin-2 isoform X2

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:437 → 754
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:3 → 218
      Stonin2_N; Stonin 2

    7. XM_006515376.5 → XP_006515439.1  stonin-2 isoform X3

      See identical proteins and their annotated locations for XP_006515439.1

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:430 → 747
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 211
      Stonin2_N; Stonin 2

    8. XM_011243985.4 → XP_011242287.1  stonin-2 isoform X4

      See identical proteins and their annotated locations for XP_011242287.1

      Conserved Domains (2) summary
      cd09263
      Location:356 → 673
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 137
      Stonin2_N; Stonin 2

    9. XM_036157157.1 → XP_036013050.1  stonin-2 isoform X3

      UniProtKB/TrEMBL
      E9PXP7
      Conserved Domains (2) summary
      cd09263
      Location:430 → 747
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 211
      Stonin2_N; Stonin 2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZ60.1 GenPept UniProtKB/Swiss-Prot:Q8BZ60

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