MBNL3 (muscleblind like splicing regulator 3)

2017-10-01  

Identity

HGNC
LOCATION
Xq26.2
LOCUSID
ALIAS
CHCR,MBLX,MBLX39,MBXL

Other Information

Locus ID:

NCBI: 55796
MIM: 300413
HGNC: 20564
Ensembl: ENSG00000076770

Variants:

dbSNP: 55796
ClinVar: 55796
TCGA: ENSG00000076770
COSMIC: MBNL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076770ENST00000370839Q9NUK0
ENSG00000076770ENST00000370844Q9NUK0
ENSG00000076770ENST00000370849Q9NUK0
ENSG00000076770ENST00000370853Q9NUK0
ENSG00000076770ENST00000370857B1AKI6
ENSG00000076770ENST00000394311Q9NUK0
ENSG00000076770ENST00000421707B1AKI5
ENSG00000076770ENST00000436215B1AKI4
ENSG00000076770ENST00000442191B1AKI2
ENSG00000076770ENST00000538204Q9NUK0

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
152572972004Muscleblind proteins regulate alternative splicing.200
285539382017The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing PXN expression through the alternative splicing of lncRNA-PXN-AS1.66
190959652009Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.31
122971082002Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR.25
171027992006Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.2

Citation

Dessen P

MBNL3 (muscleblind like splicing regulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57062/mbnl3