ENSG00000243244


Homo sapiens

Features
Gene ID: ENSG00000243244
  
Biological name :STON1
  
Synonyms : Q9Y6Q2 / STON1 / stonin 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p16.3
Gene start: 48529383
Gene end: 48598513
  
Corresponding Affymetrix probe sets: 213413_at (Human Genome U133 Plus 2.0 Array)   231795_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000385273
Ensembl peptide - ENSP00000384615
Ensembl peptide - ENSP00000399868
NCBI entrez gene - 11037     See in Manteia.
OMIM - 605357
RefSeq - NM_006873
RefSeq - NM_001198595
RefSeq Peptide - NP_001185524
RefSeq Peptide - NP_006864
swissprot - Q9Y6Q2
swissprot - H7C1E2
Ensembl - ENSG00000243244
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gtf2a1lENSDARG00000104596Danio rerio
 STON1ENSGALG00000009092Gallus gallus
 Ston1ENSMUSG00000033855Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STON1-GTF2A1L / STON1-GTF2A1L readthroughENSG0000006878197
STON2 / Q8WXE9 / stonin 2ENSG0000014002234
Q9UNN4 / GTF2A1L / general transcription factor IIA subunit 1 likeENSG0000024244110


Protein motifs (from Interpro)
Interpro ID Name
 IPR012320  Stonin homology
 IPR017110  Stonin
 IPR028565  Mu homology domain
 IPR031232  Stonin-1
 IPR036168  AP-2 complex subunit mu, C-terminal superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0030100 regulation of endocytosis IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016020 membrane IEA


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr