2. Gene
  3. MBNL3 - muscleblind like splicing regulator 3 Gene

MBNL3 - muscleblind like splicing regulator 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CHCR; MBLX; MBXL; MBLX39

Gene ID: 55796 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08192 MBNL3 Human Pre-designed siRNA Set A Pre-designed Sets / 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