Gene name: MBNL2

Uniprot entry:

Q5VZF2

Protein names:

Muscleblind-like protein 2 (Muscleblind-like protein 1) (Muscleblind-like protein-like) (Muscleblind-like protein-like 39)

Protein sequence:

1_MALNV 6_ APVRD 11_ TKWLT 16_ LEVCR 21_ QFQRG 26_ TCSRS 31_ DEECK 36_ FAHPP 41_ KSCQV 46_ ENGRV 51_ IACFD 56_ SLKGR 61_ CSREN 66_ CKYLH 71_ PPTHL 76_ KTQLE 81_ INGRN 86_ NLIQQ 91_ KTAAA 96_ MLAQQ 101_ MQFMF 106_ PGTPL 111_ HPVPT 116_ FPVGP 121_ AIGTN 126_ TAISF 131_ APYLA 136_ PVTPG 141_ VGLVP 146_ TEILP 151_ TTPVI 156_ VPGSP 161_ PVTVP 166_ GSTAT 171_ QKLLR 176_ TDKLE 181_ VCREF 186_ QRGNC 191_ ARGET 196_ DCRFA 201_ HPADS 206_ TMIDT 211_ SDNTV 216_ TVCMD 221_ YIKGR 226_ CMREK 231_ CKYFH 236_ PPAHL 241_ QAKIK 246_ AAQHQ 251_ ANQAA 256_ VAAQA 261_ AAAAA 266_ TVMAF 271_ PPGAL 276_ HPLPK 281_ RQALE 286_ KSNGT 291_ SAVFN 296_ PSVLH 301_ YQQAL 306_ TSAQL 311_ QQHAA 316_ FIPTG 321_ SVLCM 326_ TPATS 331_ IDNSE 336_ IISRN 341_ GMECQ 346_ ESALR 351_ ITKHC 356_ YCTYY 361_ PVSSS 366_IELPQ

Protein annotations

Protein functions:

1: 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)