MBNL2

Also known as MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2

Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.

In the Vinony graph

Vinony's link graph records 4 inbound references to MBNL2, and connects out to PubMed, human chromosome 13 and Ensembl genome database project.

It is catalogued under topics including Biology of bipolar disorder and Genes on human chromosome 13.

Vinony links it to 8 Wikipedia language editions.

Gene data

MBNL2

Name: muscleblind like splicing regulator 2
Type: protein-coding
Position: 97,221,434–97,399,380 (+)
Aliases: MBLL, MBLL39, PRO2032
Ensembl: ENSG00000139793
RefSeq RNA: NM_001306070.2, NM_001382649.1, NM_001382650.1, NM_001382651.1, NM_001382652.1
RefSeq protein: NP_001292999.1, NP_001369578.1, NP_001369579.1, NP_001369580.1, NP_001369581.1

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012].

Gene Ontology

Biological process

regulation of RNA splicing regulation of RNA splicing regulation of RNA splicing

Molecular function

RNA binding RNA binding protein binding metal ion binding sequence-specific double-stranded DNA binding

Cellular component

nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm cytoplasm

via MyGene.info

Gene · Ensembl

muscleblind like splicing regulator 2

Symbol: MBNL2
Biotype: Protein coding
Organism: Homo sapiens
Location: 13:97,221,434-97,399,380
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein MBNL2 PDB 2E5S.png

Show 9 more facts

HomoloGene ID: 76766
genetic association: alcohol abuse
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/10150
genomic end: 98046374
genomic start: 97873688
chromosome: human chromosome 13
cytogenetic location: 13q32.1
expressed in: optic nerve

Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

References
Further reading
External links

Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.

This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.

Excerpted from Wikipedia’s “MBNL2” article, available under the CC BY-SA 4.0 licence.