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Protein

Muscleblind-like protein 2

Gene

Mbnl2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at transcript 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) (By similarity).By similarity

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
  • RNA binding Source: GO_Central

GO - Biological processi

  • mRNA processing Source: UniProtKB-KW
  • regulation of alternative mRNA splicing, via spliceosome Source: MGI
  • 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
Gene namesi
Name:Mbnl2
Synonyms:Kiaa4072
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 14

Organism-specific databases

MGIiMGI:2145597 Mbnl2

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002748731 – 373Muscleblind-like protein 2Add BLAST373

Proteomic databases

PaxDbiQ8C181
PeptideAtlasiQ8C181
PRIDEiQ8C181

PTM databases

iPTMnetiQ8C181
PhosphoSitePlusiQ8C181
SwissPalmiQ8C181

Expressioni

Gene expression databases

BgeeiENSMUSG00000022139 Expressed in 251 organ(s), highest expression level in quadriceps femoris
CleanExiMM_MBNL2
GenevisibleiQ8C181 MM

Interactioni

Subunit structurei

Interacts with ITGA3.By similarity

Protein-protein interaction databases

IntActiQ8C181, 2 interactors
MINTiQ8C181
STRINGi10090.ENSMUSP00000085763

Structurei

3D structure databases

ProteinModelPortaliQ8C181
SMRiQ8C181
ModBaseiSearch...
MobiDBiSearch...

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
InParanoidiQ8C181
KOiK14943
OMAiQPVQTFP
OrthoDBiEOG091G0DL0
PhylomeDBiQ8C181
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 (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8C181-1) [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 QYQRGTCSRS DEECKFAHPP KSCQVENGRV
60 70 80 90 100
IACFDSLKGR CSRENCKYLH PPTHLKTQLE INGRNNLIQQ KTAAAMLAQQ
110 120 130 140 150
MQFMFPGTPL HPVPTFPVGP TIGTNAAISF APYLAPVTPG VGLVPTEVLP
160 170 180 190 200
TTPVIVPGSP PVTVPGSTAT QKLLRTDKLE VCREFQRGNC ARGETDCRFA
210 220 230 240 250
HPADSTMIDT NDNTVTVCMD YIKGRCMREK CKYFHPPAHL QAKIKAAQHQ
260 270 280 290 300
ANQAAVAAQA AAAAATVMTQ STAKALKRPL EATVDLAFPP GALHPLPKRQ
310 320 330 340 350
ALEKSNGAST VFNPSVLHYQ QALTSAQLQQ HTAFIPTVPM MHSATSATVS
360 370
AATTPATSVP FAATATANQI ILK
Length:373
Mass (Da):40,156
Last modified:February 6, 2007 - v2
Checksum:i22F5B46101976FA5
GO
Isoform 2 (identifier: Q8C181-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     269-286: Missing.

Show »
Length:355
Mass (Da):38,232
Checksum:iA37A937395562B3C
GO
Isoform 3 (identifier: Q8C181-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     269-373: TQSTAKALKR...TATANQIILK → VSAPAAPALL...CFALPSLHNN

Note: No experimental confirmation available.
Show »
Length:333
Mass (Da):35,959
Checksum:i45341989164AF74E
GO
Isoform 4 (identifier: Q8C181-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-373: VPMMHSATSA...TATANQIILK → DNSEIINRNG...SSIELPQTAC

Note: No experimental confirmation available.
Show »
Length:379
Mass (Da):41,367
Checksum:iFDE4D341CE8026B6
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2K6EDM5A0A2K6EDM5_MOUSE
Muscleblind-like protein 2
Mbnl2
385Annotation score:
A0A2I3BRX8A0A2I3BRX8_MOUSE
Muscleblind-like protein 2
Mbnl2
253Annotation score:

Sequence cautioni

The sequence BAD90497 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti261A → V in BAE37762 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022889269 – 373TQSTA…QIILK → VSAPAAPALLRLPGRGWCLR VGRSCASGQLGDKAAIPAAP LPKLCRHPPPLLVLFCFALP SLHNN in isoform 3. 1 PublicationAdd BLAST105
Alternative sequenceiVSP_022890269 – 286Missing in isoform 2. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_022891338 – 373VPMMH…QIILK → DNSEIINRNGMECQESALRI TKHCYCTYYPVSSSIELPQT AC in isoform 4. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK028797 mRNA Translation: BAC26125.1
AK085709 mRNA Translation: BAC39515.1
AK151913 mRNA Translation: BAE30793.1
AK151926 mRNA Translation: BAE30803.1
AK151957 mRNA Translation: BAE30829.1
AK159213 mRNA Translation: BAE34902.1
AK164372 mRNA Translation: BAE37762.1
AK167479 mRNA Translation: BAE39560.1
AK220470 mRNA Translation: BAD90497.1 Different initiation.
BC075665 mRNA Translation: AAH75665.1
CCDSiCCDS49567.1 [Q8C181-1]
CCDS49568.1 [Q8C181-2]
RefSeqiNP_780550.1, NM_175341.4 [Q8C181-1]
NP_997398.1, NM_207515.2 [Q8C181-2]
XP_006518436.1, XM_006518373.1
XP_006518437.1, XM_006518374.3
UniGeneiMm.238266

Genome annotation databases

EnsembliENSMUST00000088419; ENSMUSP00000085763; ENSMUSG00000022139 [Q8C181-1]
ENSMUST00000226800; ENSMUSP00000154734; ENSMUSG00000022139 [Q8C181-2]
ENSMUST00000227012; ENSMUSP00000153973; ENSMUSG00000022139 [Q8C181-2]
ENSMUST00000227594; ENSMUSP00000154559; ENSMUSG00000022139 [Q8C181-1]
GeneIDi105559
KEGGimmu:105559
UCSCiuc007uzq.1 mouse [Q8C181-3]
uc007uzr.1 mouse [Q8C181-1]
uc007uzs.1 mouse [Q8C181-2]
uc007uzt.1 mouse [Q8C181-4]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK028797 mRNA Translation: BAC26125.1
AK085709 mRNA Translation: BAC39515.1
AK151913 mRNA Translation: BAE30793.1
AK151926 mRNA Translation: BAE30803.1
AK151957 mRNA Translation: BAE30829.1
AK159213 mRNA Translation: BAE34902.1
AK164372 mRNA Translation: BAE37762.1
AK167479 mRNA Translation: BAE39560.1
AK220470 mRNA Translation: BAD90497.1 Different initiation.
BC075665 mRNA Translation: AAH75665.1
CCDSiCCDS49567.1 [Q8C181-1]
CCDS49568.1 [Q8C181-2]
RefSeqiNP_780550.1, NM_175341.4 [Q8C181-1]
NP_997398.1, NM_207515.2 [Q8C181-2]
XP_006518436.1, XM_006518373.1
XP_006518437.1, XM_006518374.3
UniGeneiMm.238266

3D structure databases

ProteinModelPortaliQ8C181
SMRiQ8C181
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8C181, 2 interactors
MINTiQ8C181
STRINGi10090.ENSMUSP00000085763

PTM databases

iPTMnetiQ8C181
PhosphoSitePlusiQ8C181
SwissPalmiQ8C181

Proteomic databases

PaxDbiQ8C181
PeptideAtlasiQ8C181
PRIDEiQ8C181

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000088419; ENSMUSP00000085763; ENSMUSG00000022139 [Q8C181-1]
ENSMUST00000226800; ENSMUSP00000154734; ENSMUSG00000022139 [Q8C181-2]
ENSMUST00000227012; ENSMUSP00000153973; ENSMUSG00000022139 [Q8C181-2]
ENSMUST00000227594; ENSMUSP00000154559; ENSMUSG00000022139 [Q8C181-1]
GeneIDi105559
KEGGimmu:105559
UCSCiuc007uzq.1 mouse [Q8C181-3]
uc007uzr.1 mouse [Q8C181-1]
uc007uzs.1 mouse [Q8C181-2]
uc007uzt.1 mouse [Q8C181-4]

Organism-specific databases

CTDi10150
MGIiMGI:2145597 Mbnl2
RougeiSearch...

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ8C181
KOiK14943
OMAiQPVQTFP
OrthoDBiEOG091G0DL0
PhylomeDBiQ8C181
TreeFamiTF321931

Miscellaneous databases

ChiTaRSiMbnl2 mouse
PROiPR:Q8C181
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000022139 Expressed in 251 organ(s), highest expression level in quadriceps femoris
CleanExiMM_MBNL2
GenevisibleiQ8C181 MM

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_MOUSE
AccessioniPrimary (citable) accession number: Q8C181
Secondary accession number(s): Q3TPH4, Q5DTQ0, Q8BUD8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 121 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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