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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
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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.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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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