MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001482

UniProt Annotations

Entry Information
Gene Nameheterogeneous nuclear ribonucleoprotein A2/B1
Protein EntryROA2_HUMAN
UniProt IDP22626
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=B1; IsoId=P22626-1; Sequence=Displayed; Name=A2; IsoId=P22626-2; Sequence=VSP_005830;
DiseaseInclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269|PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved with pre-mRNA processing. Forms complexes (ribonucleosomes) with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus.
InteractionQ9HA38:ZMAT3; NbExp=3; IntAct=EBI-299649, EBI-2548480;
SimilarityContains 2 RRM (RNA recognition motif) domains. {ECO:0000255|PROSITE-ProRule:PRU00176}.
Subcellular LocationNucleus, nucleoplasm {ECO:0000269|PubMed:17289661}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Component of ribonucleosomes. Predominantly nucleoplasmic, however isoform A2 is also found in the cytoplasm of cells in some tissues. Not found in the nucleolus.
SubunitIdentified in the spliceosome C complex. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with IGF2BP1. Interacts with C9orf72. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:24549040}.
  logo