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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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