MBNL2
entrez
10150
canonical
uniprot
Q5VZF2
canonical
ensembl
ENSG00000139793
resolver
ensp
ENSP00000267287
resolver
ensp
ENSP00000344214
resolver
ensp
ENSP00000365861
resolver
ensp
ENSP00000380726
resolver
ensp
ENSP00000505596
resolver
ensp
ENSP00000515872
resolver
ensp
ENSP00000515878
resolver
ensp
ENSP00000569908
resolver
ensp
ENSP00000569909
resolver
ensp
ENSP00000569910
resolver
ensp
ENSP00000569911
resolver
ensp
ENSP00000614783
resolver
ensp
ENSP00000654302
resolver
ensp
ENSP00000795994
resolver
ensp
ENSP00000795995
resolver
enst
ENST00000679496
resolver
enst
ENST00000704364
resolver
enst
ENST00000704373
resolver
enst
ENST00000944724
resolver
genesymbol
MBNL2
resolver
genesymbol_syn
MBLL
resolver
genesymbol_syn
MBLL39
resolver
genesymbol_syn
MLP1
resolver
hgnc
HGNC:16746
resolver
uniprot
A0A7P0T9I3
resolver
uniprot
A0A994J506
resolver
uniprot
A0A994J509
resolver
uniprot
A2A3S3
resolver
uniprot
Q3SXY5
resolver
uniprot
Q58F19
resolver
uniprot
Q8NEV3
resolver
uniprot
Q8TD82
resolver
uniprot_entry
A0A7P0T9I3_HUMAN
resolver
uniprot_entry
A0A994J506_HUMAN
resolver
uniprot_entry
A0A994J509_HUMAN
resolver
uniprot_entry
A2A3S3_HUMAN
resolver
uniprot_entry
MBNL2_HUMAN
resolver
uniprot_sec
Q3SXY5
resolver
uniprot_sec
Q58F19
resolver
uniprot_sec
Q8NEV3
resolver
uniprot_sec
Q8TD82
resolver
amino_acid_sequence
MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGRCSRENCKYLHPPTHLKTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGPAIGTNTAISFAPYLAPVTPGVGLVPTEILPTTPVIVPGSPPVTVPGSTATQKLLRTDKLEVCREFQRGNCARGETDCRFAHPADSTMIDTSDNTVTVCMDYIKGRCMREKCKYFHPPAHLQAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPKRQALEKSNGTSAVFNPSVLHYQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYYPVSSSIELPQTAC
uniprot
proteins
function
FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (By similarity). Regulates NCOR2 alternative splicing (By similarity). Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM). {ECO:0000250|UniProtKB:F2Z3T4, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16273094, ECO:0000269|PubMed:16946708}.
uniprot
proteins
mass_dalton
40518
uniprot
proteins
protein_family
Muscleblind family
uniprot
proteins
pubmed
11929853
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15257297
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16273094
uniprot
proteins
pubmed
16946708
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19177353
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:16273094}. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts (PubMed:11929853).
uniprot
proteins