MBNL3 - muscleblind like splicing regulator 3 Gene

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

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		/	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

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