muscleblind like splicing regulator 2

Summary
Gene Symbol
  • MBNL2
Organism
Homo sapiens (human)
NCBI Gene
10150
PubChem
10150
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Nucleus
  • RNA-binding
  • Reference proteome
  • Repeat
  • Zinc-finger
  • mRNA splicing
Proteins
Displaying all 2 entries
UniProt Protein Name
Q5VZF2
  • Muscleblind-like protein 1
  • Muscleblind-like protein-like
  • Muscleblind-like protein-like 39
A2A3S3
Gene Ontology (GO)
Displaying all 3 entries
GO Term Evidence Code PMID
RNA splicing
mRNA processing
regulation of RNA splicing
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
nucleoplasm
cytoplasm
OrthoDB (Group)
Group level
Eukaryota
Group Name
protein muscleblind-like
Functional Category
  • E: Amino acid transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
metal ion binding
regulation of RNA splicing
Displaying 1 entry
InterPro
Zinc finger, CCCH-type
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050759 myotonic dystrophy type 2
DOID:11722 myotonic dystrophy type 1
DOID:12930 dilated cardiomyopathy
DOID:450 myotonic disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024