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FLASH GENE
Symbol MBNL2 contributors: mct/pgu - updated : 17-10-2015
HGNC name muscleblind-like 2 (Drosophila)
HGNC id 16746
Location 13q32.1      Physical location : 97.874.573 - 98.046.372
Synonym name
  • muscleblind-like protein-like 39
  • muscleblind-like protein 1
  • Synonym symbol(s) MBLL, MBLL39, PRO2032, MGC120628, MGC120626, DKFZp781H1296, MGC120625, MLP1
    DNA
    TYPE functioning gene
    STRUCTURE 171.80 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TGDS 13q32.1 TDP-glucose 4,6-dehydratase ITR 13q32.1 intimal thickness-related receptor SOX21 13q31-q32 SRY (sex determining region Y)-box 21 LOC387941 13 LOC387941 LOC341583 13q32.1 similar to bromodomain containing 7; bromodomain protein; bromodomain-containing 7 LOC387942 13 LOC387942 ABCC4 13q31 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 CLDN10 13q31-q34 claudin 10 DZIP1 13q32.1 claudin 10 DNAJC3 13q32 DnaJ (Hsp40) homolog, subfamily C, member 3 UGCGL2 13q32.1 UDP-glucose ceramide glucosyltransferase-like 2 HS6ST3 13 heparan sulfate 6-O-sulfotransferase 3 LOC283476 13q32.2 hypothetical protein LOC283476 LOC390420 13 similar to heat shock protein 84 - mouse LOC341592 13q32.2 similar to tubby like protein 3 GPR80 13q32.2 G protein-coupled receptor 80 MBNL2 13q31.1 muscleblind-like 2 (Drosophila) RAP2A 13q34 RAP2A, member of RAS oncogene family LOC121906 13q32.2 similar to Proteasome subunit alpha type 6 (Proteasome iota chain) (Macropain iota chain) (Multicatalytic endopeptidase complex iota chain) (27 kDa prosomal protein) (PROS-27) (p27K) LOC387943 13 LOC387943 KPNB3 13q32.2 karyopherin (importin) beta 3 FARP1 13q32.2-q32.3 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) ZNF183L1 13q zinc finger protein 183-like 1 STK24 13q32 serine/threonine kinase 24 (STE20 homolog, yeast) HCP35 13q32.3 cytochrome c, somatic pseudogene SLC15A1 13q33-q34 solute carrier family 15 (oligopeptide transporter), member 1 DOCK9 13q32.1 dedicator of cytokinesis 9 LOC390421 13 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PHGDHL1 13 phosphoglycerate dehydrogenase like 1 GPR18 13q32 G protein-coupled receptor 18 EBI2 13q32.3 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) LOC390422 13 similar to Epstein-Barr virus induced gene 2 TM9SF2 13q32.2 transmembrane 9 superfamily member 2
    RNA
    TRANSCRIPTS type messenger
    text
  • several extensive alternatively spliced variants
  • conserved developmental stage- and tissue-specific alternative splicing of MBNL1, MBNL2 transcripts is an important mechanism by which MBNL activity is regulated during embryonic development (PMID: 20009516)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 4731 39.2 367 - 2002 11929853
    7 splicing 4600 39.2 361 - 2002 11929853
  • has a shorter and distinct C-terminus due to the lack of two adjacent segments in the coding region
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary    Rattus norvegicus
    Nervousbrainlimbic systemhippocampus predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • expressed in the embryonic heart
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a C3H1-type zinc finger
  • four CCCH zinc finger motifs (ZF1-4)
  • HOMOLOGY
    interspecies homolog to murine AI047808
    intraspecies paralog to MBNL1, MBNL3
    Homologene
    FAMILY
  • muscleblind family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • co-localizing with foci in DM1 and DM2 cells
  • throughout the cytoplasm and nucleus in normal cells
  • basic FUNCTION
  • may play a role in myotonic dystrophy pathophysiology
  • participates in a new RNA-dependent protein localization mechanism involving recruitment of integrin alpha3 protein to focal adhesions
  • involved in the differentiation of muscle inclusion by controlling the splicing patterns of several pre-mRNAs
  • MBNL1, MBNL2, MBNL3 plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete MBNL proteins
  • central and negative regulatory role for MBNL1, MBNL2 proteins in pluripotency
  • depletion of MBNL1 and/or MBNL2 reduced localization of hundreds of transcripts, implicating MBLN1, 2, 3 in localization of mRNAs to neurites
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
  • MBNL1, MBNL2, MBNL3 bind to hundreds of pre- and mature mRNAs to regulate their alternative splicing, alternative polyadenylation, stability and subcellular localization
  • small molecule metal binding,
  • Zn2+
  • protein
  • MBNL1 and MBNL2 bind to nascent transcripts to regulate alternative splicing during muscle and brain development
  • MBNL1, MBNL2, MBNL3 are capable of fine-tuning cellular content of MBNL1, by binding to the first coding exon (e1) of its pre-mRNA
  • cell & other
    REGULATION
    Other abundance of MBNL2 transcripts and protein are controlled by an adrenergic/cAMP mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mbnl2-deficient mice develop myotonia and have skeletal muscle pathology consistent with human DM
  • Mbnl2 knockout mice develop several myotonic dystrophy-associated central nervous system (CNS) features including abnormal REM sleep propensity and deficits in spatial memory
  • depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events