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Protein

Muscleblind-like protein 2

Gene

MBNL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • metal ion binding Source: UniProtKB-KW
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

Metal-binding, RNA-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

HGNCiHGNC:16746. MBNL2.

Subcellular locationi

  • Nucleus 1 Publication
  • Cytoplasm 1 Publication

  • 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).

GO - Cellular componenti

Complete GO annotation...

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

MaxQBiQ5VZF2.
PaxDbiQ5VZF2.
PeptideAtlasiQ5VZF2.
PRIDEiQ5VZF2.

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.
CleanExiHS_MBNL2.
ExpressionAtlasiQ5VZF2. baseline and differential.
GenevisibleiQ5VZF2. HS.

Interactioni

Subunit structurei

Interacts with ITGA3.2 Publications

Protein-protein interaction databases

BioGridi115452. 8 interactors.
IntActiQ5VZF2. 1 interactor.
STRINGi9606.ENSP00000267287.

Structurei

Secondary structure

1373
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi12 – 16Combined sources5
Helixi20 – 24Combined sources5
Turni31 – 33Combined sources3
Beta strandi34 – 37Combined sources4
Beta strandi41 – 43Combined sources3
Beta strandi49 – 52Combined sources4
Helixi54 – 58Combined sources5
Helixi73 – 81Combined sources9
Beta strandi176 – 181Combined sources6
Helixi184 – 187Combined sources4
Helixi193 – 196Combined sources4
Beta strandi198 – 200Combined sources3
Turni210 – 212Combined sources3
Beta strandi214 – 217Combined sources4
Helixi219 – 223Combined sources5
Helixi238 – 248Combined sources11

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...

Miscellaneous databases

EvolutionaryTraceiQ5VZF2.

Family & Domainsi

Sequence similaritiesi

Belongs to the muscleblind family.Curated
Contains 4 C3H1-type zinc fingers.PROSITE-ProRule annotation

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.
OMAiFPHGVLQ.
OrthoDBiEOG091G0DL0.
PhylomeDBiQ5VZF2.
TreeFamiTF321931.

Family and domain databases

Gene3Di4.10.1000.10. 2 hits.
InterProiIPR000571. Znf_CCCH.
[Graphical view]
PfamiPF00642. zf-CCCH. 2 hits.
[Graphical view]
SMARTiSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEiPS50103. ZF_C3H1. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

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, AL442067 Genomic DNA. Translation: CAH73649.1.
AL442067, AL161430 Genomic DNA. Translation: CAI39497.1.
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. [Q5VZF2-1]
XP_016875799.1. XM_017020310.1. [Q5VZF2-2]
XP_016875800.1. XM_017020311.1. [Q5VZF2-3]
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

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, AL442067 Genomic DNA. Translation: CAH73649.1.
AL442067, AL161430 Genomic DNA. Translation: CAI39497.1.
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. [Q5VZF2-1]
XP_016875799.1. XM_017020310.1. [Q5VZF2-2]
XP_016875800.1. XM_017020311.1. [Q5VZF2-3]
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. 8 interactors.
IntActiQ5VZF2. 1 interactor.
STRINGi9606.ENSP00000267287.

PTM databases

iPTMnetiQ5VZF2.
PhosphoSitePlusiQ5VZF2.

Polymorphism and mutation databases

BioMutaiMBNL2.
DMDMi125952110.

Proteomic databases

MaxQBiQ5VZF2.
PaxDbiQ5VZF2.
PeptideAtlasiQ5VZF2.
PRIDEiQ5VZF2.

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.
GeneCardsiMBNL2.
H-InvDBHIX0037300.
HGNCiHGNC:16746. MBNL2.
MIMi607327. gene.
neXtProtiNX_Q5VZF2.
OpenTargetsiENSG00000139793.
PharmGKBiPA134901420.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiMBNL2. human.
EvolutionaryTraceiQ5VZF2.
GeneWikiiMBNL2.
GenomeRNAii10150.
PROiQ5VZF2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139793.
CleanExiHS_MBNL2.
ExpressionAtlasiQ5VZF2. baseline and differential.
GenevisibleiQ5VZF2. HS.

Family and domain databases

Gene3Di4.10.1000.10. 2 hits.
InterProiIPR000571. Znf_CCCH.
[Graphical view]
PfamiPF00642. zf-CCCH. 2 hits.
[Graphical view]
SMARTiSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEiPS50103. ZF_C3H1. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBNL2_HUMAN
AccessioniPrimary (citable) accession number: Q5VZF2
Secondary accession number(s): Q3SXY5
, Q58F19, Q8NEV3, Q8TD82
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 2, 2016
This is version 112 of the entry and version 2 of the sequence. [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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.