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    STON2 stonin 2 [ Homo sapiens (human) ]

    Gene ID: 85439, updated on 2-Nov-2024

    Summary

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    Official Symbol
    STON2provided by HGNC
    Official Full Name
    stonin 2provided by HGNC
    Primary source
    HGNC:HGNC:30652
    See related
    Ensembl:ENSG00000140022 MIM:608467; AllianceGenome:HGNC:30652
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STN2; STNB; STNB2
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 5.7), spleen (RPKM 3.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STON2 in Genome Data Viewer
    Location:
    14q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (81260652..81436465, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (75472819..75651273, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81726996..81902809, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8828 Neighboring gene dynein light chain LC8-type 1 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr14:81730201-81730702 Neighboring gene uracil-DNA glycosylase pseudogene 3 Neighboring gene NFE2L2 motif-containing MPRA enhancer 109 Neighboring gene ribosomal protein S24 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:81852327-81852827 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:81893820-81894324 Neighboring gene dynein light chain LC8-type 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:81915824-81916798 Neighboring gene long intergenic non-protein coding RNA 2308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8829 Neighboring gene SEL1L adaptor subunit of SYVN1 ubiquitin ligase Neighboring gene MPRA-validated peak2221 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:81999985-82000484

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Stonin 2 activates lysosomal-mTOR axis for cell survival in oral cancer. Mahapatra KK, et al. Toxicol In Vitro, 2023 Apr. PMID 36702439
    2. 1H, 13C, and 15N chemical shift assignments for the Eps15-EH2-stonin 2 complex. Rumpf J, et al. Biomol NMR Assign, 2008 Jun. PMID 19636924
    3. Positive association of the human STON2 gene with schizophrenia. Luan Z, et al. Neuroreport, 2011 Apr 20. PMID 21407139
    4. Cortical surface area correlates with STON2 gene Ser307Pro polymorphism in first-episode treatment-naïve patients with schizophrenia. Xiang B, et al. PLoS One, 2013. PMID 23785397, Free PMC Article
    5. Stonin 2 Overexpression is Correlated with Unfavorable Prognosis and Tumor Invasion in Epithelial Ovarian Cancer. Sun X, et al. Int J Mol Sci, 2017 Jul 29. PMID 28758939, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Stonin 2 activates lysosomal-mTOR axis for cell survival in oral cancer.
      Title: Stonin 2 activates lysosomal-mTOR axis for cell survival in oral cancer.
    2. Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
      Title: Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson.
    3. Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2.
      Title: Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2.
    4. this study revealed that miR-199b-5p functions as antioncogene miRNA in papillary thyroid carcinoma cells and that the miR-199b-5p/STON2 axis might be a potential treatment option for papillary thyroid carcinoma
      Title: miR-199b-5p-Stonin 2 axis regulates metastases and epithelial-to-mesenchymal transition of papillary thyroid carcinoma.
    5. The functional significance of this STON2-DNMT1/MUC1 pathway is supported by the observation that STON2 overexpression suppresses MUC1-induced sphere formation of OCSCs.
      Title: STON2 negatively modulates stem-like properties in ovarian cancer cells via DNMT1/MUC1 pathway.
    6. STON2 plays an important role in the progression and prognosis of ovarian carcinoma, especially in platinum resistance, intraperitoneal metastasis, and recurrence. STON2 can be a novel antitumor drug target and biomarker which predicts an unfavorable prognosis for EOC patients.
      Title: Stonin 2 Overexpression is Correlated with Unfavorable Prognosis and Tumor Invasion in Epithelial Ovarian Cancer.
    7. The present study demonstrated that the functional variant of the STON2 gene could alter cortical surface area on the right inferior temporal and contribute to the pathogenesis of schizophrenia.
      Title: Cortical surface area correlates with STON2 gene Ser307Pro polymorphism in first-episode treatment-naïve patients with schizophrenia.
    8. STON2 may be a susceptibility gene for Chinese Han patients with schizophrenia.
      Title: Positive association of the human STON2 gene with schizophrenia.
    9. Our data identify the molecular determinants for recognition of synaptotagmin by stonin 2 or its Caenorhabditis elegans orthologue UNC-41B.
      Title: Molecular basis of synaptic vesicle cargo recognition by the endocytic sorting adaptor stonin 2.
    10. The ability of stonin 2 to facilitate endocytosis of synaptotagmin is dependent on its association with AP-2, an intact mu-homology domain, and functional AP-2 heterotetramers.
      Title: Stonin 2 is an AP-2-dependent endocytic sorting adaptor for synaptotagmin internalization and recycling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    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
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle endocytosis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    stonin-2
    Names
    stoned B homolog 2

    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_001256430.3 → NP_001243359.1  stonin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB208948, AL121769, AL136040, BX648249
      Consensus CDS
      CCDS58332.1
      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      Related
      ENSP00000450857.1, ENST00000555447.5
      Conserved Domains (2) summary
      cd09263
      Location:559 → 871
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 340
      Stonin2_N; Stonin 2

    2. NM_001366849.2 → NP_001353778.1  stonin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121769, AL136040
      Consensus CDS
      CCDS91914.1
      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      A0A3B3IU55
      Related
      ENSP00000498075.1, ENST00000649389.1
      Conserved Domains (2) summary
      cd09263
      Location:616 → 928
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    3. NM_001366850.2 → NP_001353779.1  stonin-2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL121769, AL136040
      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      Conserved Domains (2) summary
      cd09263
      Location:559 → 876
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 340
      Stonin2_N; Stonin 2

    4. NM_001394390.1 → NP_001381319.1  stonin-2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL121769, AL136040
      Consensus CDS
      CCDS91915.1
      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      H0YJ05
      Related
      ENSP00000477736.2, ENST00000614646.5
      Conserved Domains (2) summary
      cd09263
      Location:616 → 933
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      81260652..81436465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449736.2 → XP_024305504.1  stonin-2 isoform X3

      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      Conserved Domains (2) summary
      cd09263
      Location:559 → 871
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 340
      Stonin2_N; Stonin 2

    2. XM_011537242.3 → XP_011535544.1  stonin-2 isoform X2

      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      H0YJ05
      Related
      ENSP00000450577.3, ENST00000553821.3
      Conserved Domains (2) summary
      cd09263
      Location:616 → 933
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    3. XM_047431815.1 → XP_047287771.1  stonin-2 isoform X3

    4. XM_047431816.1 → XP_047287772.1  stonin-2 isoform X4

    5. XM_024449735.2 → XP_024305503.1  stonin-2 isoform X1

      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      A0A3B3IU55
      Conserved Domains (2) summary
      cd09263
      Location:616 → 928
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    6. XM_047431813.1 → XP_047287769.1  stonin-2 isoform X2

      UniProtKB/TrEMBL
      H0YJ05

    7. XM_024449734.2 → XP_024305502.1  stonin-2 isoform X1

      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      A0A3B3IU55
      Conserved Domains (2) summary
      cd09263
      Location:616 → 928
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    8. XM_047431811.1 → XP_047287767.1  stonin-2 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU55

    9. XM_047431812.1 → XP_047287768.1  stonin-2 isoform X2

      UniProtKB/TrEMBL
      H0YJ05

    10. XM_047431817.1 → XP_047287773.1  stonin-2 isoform X4

    11. XM_011537240.3 → XP_011535542.1  stonin-2 isoform X1

      UniProtKB/Swiss-Prot
      G3V2T7, Q17R24, Q59H11, Q6NT47, Q8WXE9, Q96RI7, Q96RU6
      UniProtKB/TrEMBL
      A0A3B3IU55
      Conserved Domains (2) summary
      cd09263
      Location:616 → 928
      AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
      pfam12016
      Location:1 → 397
      Stonin2_N; Stonin 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      75472819..75651273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376827.1 → XP_054232802.1  stonin-2 isoform X3

    2. XM_054376825.1 → XP_054232800.1  stonin-2 isoform X2

    3. XM_054376828.1 → XP_054232803.1  stonin-2 isoform X3

    4. XM_054376829.1 → XP_054232804.1  stonin-2 isoform X4

    5. XM_054376826.1 → XP_054232801.1  stonin-2 isoform X2

    6. XM_054376822.1 → XP_054232797.1  stonin-2 isoform X1

    7. XM_054376820.1 → XP_054232795.1  stonin-2 isoform X1

    8. XM_054376821.1 → XP_054232796.1  stonin-2 isoform X1

    9. XM_054376824.1 → XP_054232799.1  stonin-2 isoform X2

    10. XM_054376823.1 → XP_054232798.1  stonin-2 isoform X1

    11. XM_054376830.1 → XP_054232805.1  stonin-2 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033104.3: Suppressed sequence

      Description
      NM_033104.3: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXE9.1 GenPept UniProtKB/Swiss-Prot:Q8WXE9

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