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
334667332021MBNL2 Regulates DNA Damage Response via Stabilizing p21.11
334667332021MBNL2 Regulates DNA Damage Response via Stabilizing p21.11
321273842020Muscleblind-like 2 controls the hypoxia response of cancer cells.12
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
321273842020Muscleblind-like 2 controls the hypoxia response of cancer cells.12
326528602020SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.6
299460702018miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.39
299460702018miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.39
275641102016Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion.12
275641102016Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion.12
263397852015Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.25
263397852015Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.25
244405242014Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.15
244405242014Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.15
237393262013MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.183

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-(muscleblind-like-splicing-regulator-2)