MBNL3 - muscleblind like splicing regulator 3 Gene

Also Known as CHCR; MBLX; MBXL; MBLX39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55796

About MBNL3

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:132,369,320-132,490,035 (from NCBI)

This gene has 14 transcripts (splice variants), 201 orthologues and 3 paralogues. Broad expression in placenta (RPKM 21.9), testis (RPKM 7.6) and 16 other tissues.

Summary

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]

MBNL3 Products (28)

mRNA Protein Name
NM_001170701.3 NP_001164172.2 muscleblind-like protein 3 isoform 5
NM_001170702.3 NP_001164173.2 muscleblind-like protein 3 isoform 10
NM_001170703.2 NP_001164174.1 muscleblind-like protein 3 isoform 5
NM_001170704.2 NP_001164175.1 muscleblind-like protein 3 isoform 5
NM_001386889.1 NP_001373818.1 muscleblind-like protein 3 isoform 1
NM_001386891.1 NP_001373820.1 muscleblind-like protein 3 isoform 6
NM_001386892.1 NP_001373821.1 muscleblind-like protein 3 isoform 6
NM_001386894.1 NP_001373823.1 muscleblind-like protein 3 isoform 1
NM_001386896.1 NP_001373825.1 muscleblind-like protein 3 isoform 1
NM_001386897.1 NP_001373826.1 muscleblind-like protein 3 isoform 1
NM_001386898.1 NP_001373827.1 muscleblind-like protein 3 isoform 7
NM_001386899.1 NP_001373828.1 muscleblind-like protein 3 isoform 7
NM_001386900.1 NP_001373829.1 muscleblind-like protein 3 isoform 8
NM_001386901.1 NP_001373830.1 muscleblind-like protein 3 isoform 8
NM_001386902.1 NP_001373831.1 muscleblind-like protein 3 isoform 8
NM_001386907.1 NP_001373836.1 muscleblind-like protein 3 isoform 8
NM_001386909.1 NP_001373838.1 muscleblind-like protein 3 isoform 9
NM_001386910.1 NP_001373839.1 muscleblind-like protein 3 isoform 5
NM_001386911.1 NP_001373840.1 muscleblind-like protein 3 isoform 5
NM_001386912.1 NP_001373841.1 muscleblind-like protein 3 isoform 5
NM_001386913.1 NP_001373842.1 muscleblind-like protein 3 isoform 5
NM_001386914.1 NP_001373843.1 muscleblind-like protein 3 isoform 10
NM_001386915.1 NP_001373844.1 muscleblind-like protein 3 isoform 10
NM_001386916.1 NP_001373845.1 muscleblind-like protein 3 isoform 11
NM_001386917.1 NP_001373846.1 muscleblind-like protein 3 isoform 12
NM_001386918.1 NP_001373847.1 muscleblind-like protein 3 isoform 13
NM_018388.4 NP_060858.2 muscleblind-like protein 3 isoform 1
NM_133486.4 NP_597846.1 muscleblind-like protein 3 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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
Protein Preferred Names Protein Names

muscleblind-like protein 3

  • Cys3His CCG1-required protein

MBNL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MBNL3 Q9NUK0 DAB1 Homo sapiens O75553
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Spinocerebellar Ataxia 8

  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8
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
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08192 MBNL3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22627 Mbnl3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29142 Mbnl3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MBNL3 VGNC VGNC:74546
Felis catus MBNL3 VGNC VGNC:63402
Bos taurus MBNL3 VGNC VGNC:31285
Rattus norvegicus MBNL3 RGD RGD:1565834
Mus musculus MBNL3 MGD MGI:2444912
Canis familiaris MBNL3 VGNC VGNC:43059