MBNL3 Gene Summary [Human]

This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

Details

Type
Protein Coding
Official Symbol
MBNL3
Official Name
muscleblind like splicing regulator 3 [Source:HGNC Symbol;Acc:HGNC:20564]
Ensembl ID
ENSG00000076770
Bio databases IDs NCBI: 55796 Ensembl: ENSG00000076770
Aliases muscleblind like splicing regulator 3
Synonyms A530038J18Rik, AI661274, CHCR, E430034C16Rik, LOC100132018, MBLX, MBLX39, MBXL, muscleblind like splicing factor 3, muscleblind-like splicing regulator 3, RGD1565834
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MBNL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • zinc finger
  • CCCH-type zinc finger
  • Zinc finger C-x8-C-x5-C-x3-H type (and similar)
  • protein binding
  • zinc finger domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
regulates
role in cell
  • expression in
  • production in
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MBNL3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing
  • negative regulation of myoblast differentiation
  • regulation of RNA splicing
  • mRNA processing

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • RNA binding
  • metal ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.