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Protein

Muscleblind-like protein 2

Gene

MBNL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. 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).3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri176 – 204C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri212 – 238C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

GO - Molecular functioni

GO - Biological processi

  • mRNA processing Source: UniProtKB-KW
  • regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
  • regulation of RNA splicing Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Muscleblind-like protein 2
Alternative name(s):
Muscleblind-like protein 1
Muscleblind-like protein-like
Muscleblind-like protein-like 39
Gene namesi
Name:MBNL2
Synonyms:MBLL, MBLL39, MLP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000139793.18
HGNCiHGNC:16746 MBNL2
MIMi607327 gene
neXtProtiNX_Q5VZF2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10150
OpenTargetsiENSG00000139793
PharmGKBiPA134901420

Polymorphism and mutation databases

BioMutaiMBNL2
DMDMi125952110

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002748721 – 373Muscleblind-like protein 2Add BLAST373

Proteomic databases

EPDiQ5VZF2
MaxQBiQ5VZF2
PaxDbiQ5VZF2
PeptideAtlasiQ5VZF2
PRIDEiQ5VZF2
ProteomicsDBi65695
65696 [Q5VZF2-2]
65697 [Q5VZF2-3]

PTM databases

iPTMnetiQ5VZF2
PhosphoSitePlusiQ5VZF2

Expressioni

Tissue specificityi

Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000139793 Expressed in 242 organ(s), highest expression level in brain
CleanExiHS_MBNL2
ExpressionAtlasiQ5VZF2 baseline and differential
GenevisibleiQ5VZF2 HS

Organism-specific databases

HPAiHPA062685

Interactioni

Subunit structurei

Interacts with ITGA3.2 Publications

Protein-protein interaction databases

BioGridi115452, 9 interactors
IntActiQ5VZF2, 3 interactors
STRINGi9606.ENSP00000267287

Structurei

Secondary structure

1373
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ5VZF2
SMRiQ5VZF2
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5VZF2

Family & Domainsi

Sequence similaritiesi

Belongs to the muscleblind family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri176 – 204C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri212 – 238C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ5VZF2
KOiK14943
OMAiQPVQTFP
OrthoDBiEOG091G0DL0
PhylomeDBiQ5VZF2
TreeFamiTF321931

Family and domain databases

InterProiView protein in InterPro
IPR000571 Znf_CCCH
PfamiView protein in Pfam
PF00642 zf-CCCH, 2 hits
SMARTiView protein in SMART
SM00356 ZnF_C3H1, 4 hits
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 4 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VZF2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALNVAPVRD TKWLTLEVCR QFQRGTCSRS DEECKFAHPP KSCQVENGRV
60 70 80 90 100
IACFDSLKGR CSRENCKYLH PPTHLKTQLE INGRNNLIQQ KTAAAMLAQQ
110 120 130 140 150
MQFMFPGTPL HPVPTFPVGP AIGTNTAISF APYLAPVTPG VGLVPTEILP
160 170 180 190 200
TTPVIVPGSP PVTVPGSTAT QKLLRTDKLE VCREFQRGNC ARGETDCRFA
210 220 230 240 250
HPADSTMIDT SDNTVTVCMD YIKGRCMREK CKYFHPPAHL QAKIKAAQHQ
260 270 280 290 300
ANQAAVAAQA AAAAATVMAF PPGALHPLPK RQALEKSNGT SAVFNPSVLH
310 320 330 340 350
YQQALTSAQL QQHAAFIPTG SVLCMTPATS IDNSEIISRN GMECQESALR
360 370
ITKHCYCTYY PVSSSIELPQ TAC
Length:373
Mass (Da):40,518
Last modified:February 6, 2007 - v2
Checksum:i8FC6D5C150781277
GO
Isoform 2 (identifier: Q5VZF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     332-373: DNSEIISRNG...SSIELPQTAC → VPMMHSATSA...TATANQIILK

Show »
Length:367
Mass (Da):39,334
Checksum:iA634E28105FA8C99
GO
Isoform 3 (identifier: Q5VZF2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     320-331: Missing.

Show »
Length:361
Mass (Da):39,356
Checksum:i72253C4F7EDF5447
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
O95205O95205_HUMAN
Muscleblind-like 2 (Drosophila), is...
MBNL2 MBLL, hCG_27557
255Annotation score:
Q5JSC0Q5JSC0_HUMAN
Muscleblind-like protein 2
MBNL2
105Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti254A → G in AAM09798 (PubMed:16273094).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022888320 – 331Missing in isoform 3. 3 PublicationsAdd BLAST12
Alternative sequenceiVSP_022887332 – 373DNSEI…PQTAC → VPMMHSATSATVSAATTPAT SVPFAATATANQIILK in isoform 2. 2 PublicationsAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF491866 mRNA Translation: AAM09798.1
AY101770 mRNA Translation: AAM50085.1
CR749802 mRNA Translation: CAH18662.1
AL161430 Genomic DNA No translation available.
AL442067 Genomic DNA No translation available.
BC020418 mRNA Translation: AAH20418.1
BC104038 mRNA Translation: AAI04039.1
BC104039 mRNA Translation: AAI04040.1
BC104040 mRNA Translation: AAI04041.1
CCDSiCCDS76644.1 [Q5VZF2-1]
CCDS9483.1 [Q5VZF2-3]
CCDS9484.1 [Q5VZF2-2]
RefSeqiNP_001292999.1, NM_001306070.1 [Q5VZF2-1]
NP_659002.1, NM_144778.3 [Q5VZF2-2]
NP_997187.1, NM_207304.2 [Q5VZF2-3]
XP_016875798.1, XM_017020309.1
XP_016875799.1, XM_017020310.1
XP_016875800.1, XM_017020311.1
UniGeneiHs.657347

Genome annotation databases

EnsembliENST00000343600; ENSP00000344214; ENSG00000139793 [Q5VZF2-3]
ENST00000345429; ENSP00000267287; ENSG00000139793 [Q5VZF2-2]
ENST00000376673; ENSP00000365861; ENSG00000139793 [Q5VZF2-1]
ENST00000397601; ENSP00000380726; ENSG00000139793 [Q5VZF2-3]
GeneIDi10150
KEGGihsa:10150
UCSCiuc001vmz.5 human [Q5VZF2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF491866 mRNA Translation: AAM09798.1
AY101770 mRNA Translation: AAM50085.1
CR749802 mRNA Translation: CAH18662.1
AL161430 Genomic DNA No translation available.
AL442067 Genomic DNA No translation available.
BC020418 mRNA Translation: AAH20418.1
BC104038 mRNA Translation: AAI04039.1
BC104039 mRNA Translation: AAI04040.1
BC104040 mRNA Translation: AAI04041.1
CCDSiCCDS76644.1 [Q5VZF2-1]
CCDS9483.1 [Q5VZF2-3]
CCDS9484.1 [Q5VZF2-2]
RefSeqiNP_001292999.1, NM_001306070.1 [Q5VZF2-1]
NP_659002.1, NM_144778.3 [Q5VZF2-2]
NP_997187.1, NM_207304.2 [Q5VZF2-3]
XP_016875798.1, XM_017020309.1
XP_016875799.1, XM_017020310.1
XP_016875800.1, XM_017020311.1
UniGeneiHs.657347

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E5SNMR-A167-257[»]
2RPPNMR-A7-82[»]
ProteinModelPortaliQ5VZF2
SMRiQ5VZF2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115452, 9 interactors
IntActiQ5VZF2, 3 interactors
STRINGi9606.ENSP00000267287

PTM databases

iPTMnetiQ5VZF2
PhosphoSitePlusiQ5VZF2

Polymorphism and mutation databases

BioMutaiMBNL2
DMDMi125952110

Proteomic databases

EPDiQ5VZF2
MaxQBiQ5VZF2
PaxDbiQ5VZF2
PeptideAtlasiQ5VZF2
PRIDEiQ5VZF2
ProteomicsDBi65695
65696 [Q5VZF2-2]
65697 [Q5VZF2-3]

Protocols and materials databases

DNASUi10150
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343600; ENSP00000344214; ENSG00000139793 [Q5VZF2-3]
ENST00000345429; ENSP00000267287; ENSG00000139793 [Q5VZF2-2]
ENST00000376673; ENSP00000365861; ENSG00000139793 [Q5VZF2-1]
ENST00000397601; ENSP00000380726; ENSG00000139793 [Q5VZF2-3]
GeneIDi10150
KEGGihsa:10150
UCSCiuc001vmz.5 human [Q5VZF2-1]

Organism-specific databases

CTDi10150
DisGeNETi10150
EuPathDBiHostDB:ENSG00000139793.18
GeneCardsiMBNL2
H-InvDBiHIX0037300
HGNCiHGNC:16746 MBNL2
HPAiHPA062685
MIMi607327 gene
neXtProtiNX_Q5VZF2
OpenTargetsiENSG00000139793
PharmGKBiPA134901420
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ5VZF2
KOiK14943
OMAiQPVQTFP
OrthoDBiEOG091G0DL0
PhylomeDBiQ5VZF2
TreeFamiTF321931

Miscellaneous databases

ChiTaRSiMBNL2 human
EvolutionaryTraceiQ5VZF2
GeneWikiiMBNL2
GenomeRNAii10150
PROiPR:Q5VZF2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139793 Expressed in 242 organ(s), highest expression level in brain
CleanExiHS_MBNL2
ExpressionAtlasiQ5VZF2 baseline and differential
GenevisibleiQ5VZF2 HS

Family and domain databases

InterProiView protein in InterPro
IPR000571 Znf_CCCH
PfamiView protein in Pfam
PF00642 zf-CCCH, 2 hits
SMARTiView protein in SMART
SM00356 ZnF_C3H1, 4 hits
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMBNL2_HUMAN
AccessioniPrimary (citable) accession number: Q5VZF2
Secondary accession number(s): Q3SXY5
, Q58F19, Q8NEV3, Q8TD82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 127 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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