MBNL2 (muscleblind like splicing regulator 2)

2018-07-01  

Identity

HGNC
MBNL2
LOCATION
13q32.1
LOCUSID
10150
ALIAS
MBLL,MBLL39,PRO2032
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10150
MIM: 607327
HGNC: 16746
Ensembl: ENSG00000139793

Variants:

dbSNP: 10150
ClinVar: 10150
TCGA: ENSG00000139793
COSMIC: MBNL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139793ENST00000343600Q5VZF2
ENSG00000139793ENST00000343600A2A3S3
ENSG00000139793ENST00000345429Q5VZF2
ENSG00000139793ENST00000376673Q5VZF2
ENSG00000139793ENST00000397601Q5VZF2
ENSG00000139793ENST00000397601A2A3S3
ENSG00000139793ENST00000449284Q5JSC0
ENSG00000139793ENST00000469707O95205

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
152572972004Muscleblind proteins regulate alternative splicing.200
228843282012Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.137
237393262013MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.127
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190959652009Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.31
191773532009Solution structure of the RNA binding domain in the human muscleblind-like protein 2.16
263397852015Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.12
244405242014Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.10
275641102016Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion.5
299460702018miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.5

Citation

Dessen P

MBNL2 (muscleblind like splicing regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57518/mbnl2