MBNL2 - muscleblind like splicing regulator 2 Gene

Also Known as MBLL; MBLL39; PRO2032

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10150

About MBNL2

Cytogenetic location: 13q32.1 Genomic coordinates (GRCh38): 13:97,141,834-97,394,120 (from NCBI)

This gene has 11 transcripts (splice variants), 270 orthologues and 3 paralogues. Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues.

Summary

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]

MBNL2 Products (45)

mRNA Protein Name
NM_001306070.2 NP_001292999.1 muscleblind-like protein 2 isoform 4
NM_001382649.1 NP_001369578.1 muscleblind-like protein 2 isoform 1
NM_001382650.1 NP_001369579.1 muscleblind-like protein 2 isoform 1
NM_001382651.1 NP_001369580.1 muscleblind-like protein 2 isoform 3
NM_001382652.1 NP_001369581.1 muscleblind-like protein 2 isoform 3
NM_001382653.1 NP_001369582.1 muscleblind-like protein 2 isoform 3
NM_001382654.1 NP_001369583.1 muscleblind-like protein 2 isoform 3
NM_001382656.1 NP_001369585.1 muscleblind-like protein 2 isoform 3
NM_001382660.1 NP_001369589.1 muscleblind-like protein 2 isoform 3
NM_001382661.1 NP_001369590.1 muscleblind-like protein 2 isoform 3
NM_001382663.1 NP_001369592.1 muscleblind-like protein 2 isoform 3
NM_001382666.1 NP_001369595.1 muscleblind-like protein 2 isoform 4
NM_001382667.1 NP_001369596.1 muscleblind-like protein 2 isoform 4
NM_001382668.1 NP_001369597.1 muscleblind-like protein 2 isoform 4
NM_001382669.1 NP_001369598.1 muscleblind-like protein 2 isoform 5
NM_001382670.1 NP_001369599.1 muscleblind-like protein 2 isoform 5
NM_001382671.1 NP_001369600.1 muscleblind-like protein 2 isoform 6
NM_001382672.1 NP_001369601.1 muscleblind-like protein 2 isoform 6
NM_001382673.1 NP_001369602.1 muscleblind-like protein 2 isoform 6
NM_001382674.1 NP_001369603.1 muscleblind-like protein 2 isoform 7
NM_001382675.1 NP_001369604.1 muscleblind-like protein 2 isoform 7
NM_001382676.1 NP_001369605.1 muscleblind-like protein 2 isoform 7
NM_001382677.1 NP_001369606.1 muscleblind-like protein 2 isoform 8
NM_001382678.1 NP_001369607.1 muscleblind-like protein 2 isoform 8
NM_001382679.1 NP_001369608.1 muscleblind-like protein 2 isoform 8
NM_001382680.1 NP_001369609.1 muscleblind-like protein 2 isoform 8
NM_001382681.1 NP_001369610.1 muscleblind-like protein 2 isoform 9
NM_001382682.1 NP_001369611.1 muscleblind-like protein 2 isoform 25
NM_001382683.1 NP_001369612.1 muscleblind-like protein 2 isoform 10
NM_001382684.1 NP_001369613.1 muscleblind-like protein 2 isoform 11
NM_001382685.1 NP_001369614.1 muscleblind-like protein 2 isoform 12
NM_001382686.1 NP_001369615.1 muscleblind-like protein 2 isoform 13
NM_001382687.1 NP_001369616.1 muscleblind-like protein 2 isoform 14
NM_001382688.1 NP_001369617.1 muscleblind-like protein 2 isoform 15
NM_001382689.1 NP_001369618.1 muscleblind-like protein 2 isoform 16
NM_001382690.1 NP_001369619.1 muscleblind-like protein 2 isoform 17
NM_001382691.1 NP_001369620.1 muscleblind-like protein 2 isoform 18
NM_001382692.1 NP_001369621.1 muscleblind-like protein 2 isoform 19
NM_001382693.1 NP_001369622.1 muscleblind-like protein 2 isoform 20
NM_001382694.1 NP_001369623.1 muscleblind-like protein 2 isoform 21
NM_001382695.1 NP_001369624.1 muscleblind-like protein 2 isoform 22
NM_001382696.1 NP_001369625.1 muscleblind-like protein 2 isoform 23
NM_001382697.1 NP_001369626.1 muscleblind-like protein 2 isoform 24
NM_144778.4 NP_659002.1 muscleblind-like protein 2 isoform 1
NM_207304.3 NP_997187.1 muscleblind-like protein 2 isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of RNA splicing IDA
IDA: Inferred from direct assay
15257297 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBNL2 Protein Structure

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (178 - 202)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

muscleblind-like protein 2

  • muscleblind-like 2

Related Diseases

Diseases Alias
Myotonic Dystrophy 1

  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy
Myotonic Disease

  • Myotonic Disorders

  • Myotonic Syndrome

  • Symptomatic Myotonia
Corneal Endothelial Dystrophy

  • Congenital Hereditary Endothelial Dystrophy Of Cornea

  • Chandler Syndrome

  • CHED

  • Chandler'S Syndrome

  • Endothelial Corneal Dystrophy

  • Ched2

  • Maumenee Corneal Dystrophy

  • Corneal Dystrophy, Congenital Hereditary Endothelial

  • Dystrophy Of Corneal Endothelium

  • Corneal Endothelial Dystrophy 2

  • Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

  • Ched2, Formerly

  • Corneal Endothelial Dystrophy, Autosomal Recessive

  • Endothelial Dystrophy

  • Posterior Membrane Corneal Dystrophy

  • Corneal Endothelial Dystrophy Type 2

  • Congenital Hereditary Endothelial Dystrophy Of The Cornea

  • Congenital Hereditary Endothelial Dystrophy Type Ii

  • Autosomal Recessive Ched

  • Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

  • Chedii

  • Congenital Hereditary Endothelial Dystrophy Type 2

  • Infantile Hereditary Endothelial Dystrophy

  • Congenital Hereditary Endothelial Corneal Dystrophy

  • Corneal Endothelial Dystrophy 2, Autosomal Recessive

  • Iridocorneal Endothelial Syndrome

  • Dystrophy, Corneal, Endothelial

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant
Myotonic Dystrophy 2

  • Myotonic Dystrophy Type 2

  • Proximal Myotonic Myopathy

  • Promm

  • Ricker Syndrome

  • DM2

  • Dystrophia Myotonica 2

  • Myotonic Myopathy, Proximal

  • Myotonic Disorders

  • Dystrophia Myotonica Type 2

  • Proximal Myotonic Dystrophy

  • Ricker Disease

  • Myotonic Dystrophy, Type 2

  • Dystrophy, Myotonic, Type 2
Huntington Disease-Like 2

  • HDL2

  • Huntington'S Disease-Like 2

  • Huntington Disease-Like, Type 2
Spinocerebellar Ataxia 8

  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8
X-Linked Hereditary Ataxia
Fragile X-Associated Tremor/Ataxia Syndrome

  • Fxtas Syndrome

  • Fragile X Tremor/Ataxia Syndrome

  • Fxtas
Fuchs' Endothelial Dystrophy

  • Fuchs Endothelial Corneal Dystrophy

  • Fuchs Endothelial Dystrophy

  • Fuchs Dystrophy

  • Fced

  • Fuchs' Corneal Dystrophy

  • Fuchs' Endothelial Corneal Dystrophy

  • Fuchs Atrophy

  • Fuchs Corneal Dystrophy

  • Endoepithelial Corneal Dystrophy

  • Fecd

  • Late Hereditary Endothelial Dystrophy

  • Corneal Dystrophy, Fuchs Endothelial

  • Dystrophy, Corneal, Fuchs Endothelial

  • Corneal Dystrophy, Fuchs' Endothelial, 1
Lens Disease

  • Lens Diseases
Neuromuscular Disease

  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08191 MBNL2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MBNL2 VGNC VGNC:31284
Mus musculus MBNL2 MGD MGI:2145597
Canis familiaris MBNL2 VGNC VGNC:43058
Macaca mulatta MBNL2 VGNC VGNC:74519
Felis catus MBNL2 VGNC VGNC:63401
Rattus norvegicus MBNL2 RGD RGD:1591755
Others MBNL2 NCBI