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STON2 stonin 2 [ Homo sapiens (human) ]

Gene ID: 85439, updated on 11-Sep-2019

Summary

Official Symbol
STON2provided by HGNC
Official Full Name
stonin 2provided by HGNC
Primary source
HGNC:HGNC:30652
See related
Ensembl:ENSG00000140022 MIM:608467
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

Genomic context

See STON2 in Genome Data Viewer
Location:
14q31.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (81260650..81436465, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (81726994..81902789, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dynein light chain LC8-type 1 pseudogene 1 Neighboring gene uracil-DNA glycosylase pseudogene 3 Neighboring gene NFE2L2 motif-containing MPRA enhancer 109 Neighboring gene ribosomal protein S24 pseudogene 3 Neighboring gene dynein light chain LC8-type 1 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 2308 Neighboring gene SEL1L adaptor subunit of ERAD E3 ubiquitin ligase

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
synaptic vesicle endocytosis IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
stonin-2
Names
stoned B homolog 2

NCBI Reference Sequences (RefSeq)

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_001256430.2NP_001243359.1  stonin-2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB208948, AL121769, AL136040, BX648249
    Consensus CDS
    CCDS58332.1
    UniProtKB/Swiss-Prot
    Q8WXE9
    Related
    ENSP00000450857.1, ENST00000555447.5
    Conserved Domains (2) summary
    cd09263
    Location:559871
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1340
    Stonin2_N; Stonin 2
  2. NM_001366849.2NP_001353778.1  stonin-2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL121769, AL136040
    Related
    ENSP00000498075.1, ENST00000649389.1
  3. NM_001366850.2NP_001353779.1  stonin-2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL121769, AL136040

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    81260650..81436465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449736.1XP_024305504.1  stonin-2 isoform X4

    Related
    ENSP00000477736.1, ENST00000614646.4
    Conserved Domains (2) summary
    cd09263
    Location:559871
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1340
    Stonin2_N; Stonin 2
  2. XM_011537242.2XP_011535544.1  stonin-2 isoform X3

    Conserved Domains (2) summary
    cd09263
    Location:616933
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2
  3. XM_024449733.1XP_024305501.1  stonin-2 isoform X1

    Conserved Domains (2) summary
    cd09263
    Location:616928
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2
  4. XM_024449735.1XP_024305503.1  stonin-2 isoform X1

    Conserved Domains (2) summary
    cd09263
    Location:616928
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2
  5. XM_024449734.1XP_024305502.1  stonin-2 isoform X1

    Conserved Domains (2) summary
    cd09263
    Location:616928
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2
  6. XM_011537240.2XP_011535542.1  stonin-2 isoform X1

    Conserved Domains (2) summary
    cd09263
    Location:616928
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2
  7. XM_011537241.2XP_011535543.1  stonin-2 isoform X2

    Conserved Domains (2) summary
    cd09263
    Location:616933
    AP_stonin-2_MHD; Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-2
    pfam12016
    Location:1397
    Stonin2_N; Stonin 2

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.
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