MBNL2_MOUSE
ID MBNL2_MOUSE Reviewed; 373 AA.
AC Q8C181; Q3TPH4; Q5DTQ0; Q8BUD8;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Muscleblind-like protein 2;
GN Name=Mbnl2; Synonyms=Kiaa4072;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC STRAIN=C57BL/6J;
RC TISSUE=Bone marrow, Mammary gland, Osteoclast, Placenta, Skin, and
RC Spinal ganglion;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Fetal brain;
RA Okazaki N., Kikuno R.F., Ohara R., Inamoto S., Nagase T., Ohara O.,
RA Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene. The
RT complete nucleotide sequences of mouse KIAA-homologous cDNAs identified by
RT screening of terminal sequences of cDNA clones randomly sampled from size-
RT fractionated libraries.";
RL Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts
CC either as activator or repressor of splicing on specific pre-mRNA
CC targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion
CC but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle.
CC Antagonizes the alternative splicing activity pattern of CELF proteins.
CC RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed
CC zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat
CC expansion in myotonic dystrophy muscle cells by sequestering the target
CC RNAs. Seems to regulate expression and localization of ITGA3 by
CC transporting it from the nucleus to cytoplasm at adhesion plaques. May
CC play a role in myotonic dystrophy pathophysiology (DM) (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with ITGA3. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5VZF2}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q5VZF2}. Note=Greater concentration in the
CC nucleus. Expressed in or near large cytoplasmic adhesion plaques.
CC Location in the cytoplasm is microtubule-dependent.
CC {ECO:0000250|UniProtKB:Q5VZF2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8C181-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C181-2; Sequence=VSP_022890;
CC Name=3;
CC IsoId=Q8C181-3; Sequence=VSP_022889;
CC Name=4;
CC IsoId=Q8C181-4; Sequence=VSP_022891;
CC -!- SIMILARITY: Belongs to the muscleblind family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD90497.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK028797; BAC26125.1; -; mRNA.
DR EMBL; AK085709; BAC39515.1; -; mRNA.
DR EMBL; AK151913; BAE30793.1; -; mRNA.
DR EMBL; AK151926; BAE30803.1; -; mRNA.
DR EMBL; AK151957; BAE30829.1; -; mRNA.
DR EMBL; AK159213; BAE34902.1; -; mRNA.
DR EMBL; AK164372; BAE37762.1; -; mRNA.
DR EMBL; AK167479; BAE39560.1; -; mRNA.
DR EMBL; AK220470; BAD90497.1; ALT_INIT; mRNA.
DR EMBL; BC075665; AAH75665.1; -; mRNA.
DR CCDS; CCDS49567.1; -. [Q8C181-1]
DR CCDS; CCDS49568.1; -. [Q8C181-2]
DR RefSeq; NP_780550.1; NM_175341.4. [Q8C181-1]
DR RefSeq; NP_997398.1; NM_207515.2. [Q8C181-2]
DR RefSeq; XP_006518436.1; XM_006518373.1.
DR RefSeq; XP_006518437.1; XM_006518374.3.
DR AlphaFoldDB; Q8C181; -.
DR SMR; Q8C181; -.
DR BioGRID; 222876; 1.
DR STRING; 10090.ENSMUSP00000085763; -.
DR iPTMnet; Q8C181; -.
DR PhosphoSitePlus; Q8C181; -.
DR SwissPalm; Q8C181; -.
DR EPD; Q8C181; -.
DR jPOST; Q8C181; -.
DR MaxQB; Q8C181; -.
DR PaxDb; Q8C181; -.
DR PeptideAtlas; Q8C181; -.
DR PRIDE; Q8C181; -.
DR ProteomicsDB; 295806; -. [Q8C181-1]
DR ProteomicsDB; 295807; -. [Q8C181-2]
DR ProteomicsDB; 295808; -. [Q8C181-3]
DR ProteomicsDB; 295809; -. [Q8C181-4]
DR Antibodypedia; 24898; 128 antibodies from 20 providers.
DR DNASU; 105559; -.
DR Ensembl; ENSMUST00000088419; ENSMUSP00000085763; ENSMUSG00000022139. [Q8C181-1]
DR Ensembl; ENSMUST00000226800; ENSMUSP00000154734; ENSMUSG00000022139. [Q8C181-2]
DR Ensembl; ENSMUST00000227012; ENSMUSP00000153973; ENSMUSG00000022139. [Q8C181-2]
DR Ensembl; ENSMUST00000227594; ENSMUSP00000154559; ENSMUSG00000022139. [Q8C181-1]
DR GeneID; 105559; -.
DR KEGG; mmu:105559; -.
DR UCSC; uc007uzq.1; mouse. [Q8C181-3]
DR UCSC; uc007uzr.1; mouse. [Q8C181-1]
DR UCSC; uc007uzs.1; mouse. [Q8C181-2]
DR UCSC; uc007uzt.1; mouse. [Q8C181-4]
DR CTD; 10150; -.
DR MGI; MGI:2145597; Mbnl2.
DR VEuPathDB; HostDB:ENSMUSG00000022139; -.
DR eggNOG; KOG2494; Eukaryota.
DR GeneTree; ENSGT00950000182897; -.
DR HOGENOM; CLU_053536_0_0_1; -.
DR InParanoid; Q8C181; -.
DR OMA; PTXNSEI; -.
DR PhylomeDB; Q8C181; -.
DR TreeFam; TF321931; -.
DR BioGRID-ORCS; 105559; 2 hits in 74 CRISPR screens.
DR ChiTaRS; Mbnl2; mouse.
DR PRO; PR:Q8C181; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q8C181; protein.
DR Bgee; ENSMUSG00000022139; Expressed in manus and 233 other tissues.
DR ExpressionAtlas; Q8C181; baseline and differential.
DR Genevisible; Q8C181; MM.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IMP:MGI.
DR GO; GO:0043484; P:regulation of RNA splicing; ISS:UniProtKB.
DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR InterPro; IPR000571; Znf_CCCH.
DR Pfam; PF00642; zf-CCCH; 2.
DR SMART; SM00356; ZnF_C3H1; 4.
DR PROSITE; PS50103; ZF_C3H1; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Metal-binding; mRNA processing;
KW mRNA splicing; Nucleus; Reference proteome; Repeat; RNA-binding; Zinc;
KW Zinc-finger.
FT CHAIN 1..373
FT /note="Muscleblind-like protein 2"
FT /id="PRO_0000274873"
FT ZN_FING 13..41
FT /note="C3H1-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 47..73
FT /note="C3H1-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 176..204
FT /note="C3H1-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 212..238
FT /note="C3H1-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT VAR_SEQ 269..373
FT /note="TQSTAKALKRPLEATVDLAFPPGALHPLPKRQALEKSNGASTVFNPSVLHYQ
FT QALTSAQLQQHTAFIPTVPMMHSATSATVSAATTPATSVPFAATATANQIILK -> VS
FT APAAPALLRLPGRGWCLRVGRSCASGQLGDKAAIPAAPLPKLCRHPPPLLVLFCFALPS
FT LHNN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022889"
FT VAR_SEQ 269..286
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_022890"
FT VAR_SEQ 338..373
FT /note="VPMMHSATSATVSAATTPATSVPFAATATANQIILK -> DNSEIINRNGME
FT CQESALRITKHCYCTYYPVSSSIELPQTAC (in isoform 4)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_022891"
FT CONFLICT 261
FT /note="A -> V (in Ref. 2; BAE37762)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 40156 MW; 22F5B46101976FA5 CRC64;
MALNVAPVRD TKWLTLEVCR QYQRGTCSRS DEECKFAHPP KSCQVENGRV IACFDSLKGR
CSRENCKYLH PPTHLKTQLE INGRNNLIQQ KTAAAMLAQQ MQFMFPGTPL HPVPTFPVGP
TIGTNAAISF APYLAPVTPG VGLVPTEVLP TTPVIVPGSP PVTVPGSTAT QKLLRTDKLE
VCREFQRGNC ARGETDCRFA HPADSTMIDT NDNTVTVCMD YIKGRCMREK CKYFHPPAHL
QAKIKAAQHQ ANQAAVAAQA AAAAATVMTQ STAKALKRPL EATVDLAFPP GALHPLPKRQ
ALEKSNGAST VFNPSVLHYQ QALTSAQLQQ HTAFIPTVPM MHSATSATVS AATTPATSVP
FAATATANQI ILK
