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MLO Information
Factor Information
Disease information
Description from paper
Mutation, Expression change and PTM of the factor
Related Small Molecules
MLO information
MLO Stress granule
Class MLO-unchanged
Synonyms Stress granules, SGs
Factor information
Factor type protein
Factor name HNRNPA2B1
NCBI Gene ID 3181
UniProt ID P22626
Disease information
Classification other diseases
Disease Inclusion body myositis
More Disease Information
Disease Inclusion body myositis
Disease Ontology DOID:3429
MeSH D018979
ICD-10-CM G72.41
OMIM
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Description from paper
MLO change Size: - Number: - Assembly: -
Dynamic: - Others: -
Description: -
Publication note Ectopic expression of the disease-associated mutant form of hnRNPA2B1 or Hrb98DE in fly muscle resulted in progressive,age-dependent cytoplasmic inclusion pathology,as observed in humans with hnRNPA2B1-related myopathy. Cytoplasmic inclusions consisted of hnRNPA2B1 or Hrb98DE protein in association with the stress granule marker ROX9 and additional endogenous RNA-binding proteins (RBPs),suggesting that these pathological inclusions are related to stress granules.These results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj,suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6.
Organism Drosophila melanogaster Cell line or tissue Fly muscles
Experiment evidence Direct experiment Reference 27289443,26744327
In vivo PS evidence FRAP: - 1,6-hexa treatment: - Spherical shape: -
Fusion&Fission: - PS role: -
Mutation, Expression change and PTM of the factor
Mutation p.Asp290Val Expression change -
PTM Position Residue Modification Modifying enzyme
- - -
Description Mutation: Ectopic expression of the disease-associated mutant form of hnRNPA2B1 or Hrb98DE in fly muscle resulted in progressive, age-dependent cytoplasmic inclusion pathology, as observed in humans with hnRNPA2B1-related myopathy.
Expression change: -
PTM: -
Drugs from DrugBank Copper Artenimol
Molecules from Binding database(PubChem CID) -
Molecules from PDBBind -
Interference Note -
Protein phase separation related sequence features
see detailed information in PhaSePerd P22626
Pscore overall score 14.06 PSPer 0.65
catGRANULE overall score 4.66 R+Y 0.034

Chao Hou, Haotai Xie, Yang Fu, Yao Ma, Tingting Li. MloDisDB: A manually curated DataBase of the relations between MembraneLess Organelles and DISeases