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    MBNL2 muscleblind like splicing regulator 2 [ Homo sapiens (human) ]

    Gene ID: 10150, updated on 15-Jun-2019

    Summary

    Official Symbol
    MBNL2provided by HGNC
    Official Full Name
    muscleblind like splicing regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:16746
    See related
    Ensembl:ENSG00000139793 MIM:607327
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MBLL; MBLL39; PRO2032
    Summary
    This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See MBNL2 in Genome Data Viewer
    Location:
    13q32.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (97222289..97394120)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (97874549..98046374)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268108 Neighboring gene long intergenic non-protein coding RNA 456 Neighboring gene uncharacterized LOC107984573 Neighboring gene uncharacterized LOC101927385 Neighboring gene FOXA motif-containing MPRA enhancer 219 Neighboring gene RNA, 5S ribosomal pseudogene 37 Neighboring gene RAP2A, member of RAS oncogene family Neighboring gene proteasome subunit alpha 6 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120625, MGC120626, MGC120628, DKFZp781H1296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    muscleblind-like protein 2
    Names
    muscleblind-like 2
    muscleblind-like protein 1
    muscleblind-like protein-like 39

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001306070.1NP_001292999.1  muscleblind-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001292999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 4 which has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL442067, AV733599, BC104039, CR749802, DW415513
      Consensus CDS
      CCDS76644.1
      UniProtKB/Swiss-Prot
      Q5VZF2
      Related
      ENSP00000365861.3, ENST00000376673.7
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    2. NM_144778.4NP_659002.1  muscleblind-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_659002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF339782, BC104040, CR749802, DW415513
      Consensus CDS
      CCDS9484.1
      UniProtKB/Swiss-Prot
      Q5VZF2
      Related
      ENSP00000267287.7, ENST00000345429.10
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    3. NM_207304.2NP_997187.1  muscleblind-like protein 2 isoform 3

      See identical proteins and their annotated locations for NP_997187.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF339782, BC104038, CR749802, DW415513
      Consensus CDS
      CCDS9483.1
      UniProtKB/Swiss-Prot
      Q5VZF2
      UniProtKB/TrEMBL
      A2A3S3
      Related
      ENSP00000344214.4, ENST00000343600.8
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      97222289..97394120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254018.3XP_005254075.1  muscleblind-like protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005254075.1

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    2. XM_006719912.3XP_006719975.1  muscleblind-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006719975.1

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    3. XM_005254021.3XP_005254078.1  muscleblind-like protein 2 isoform X4

      See identical proteins and their annotated locations for XP_005254078.1

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    4. XM_005254019.3XP_005254076.1  muscleblind-like protein 2 isoform X3

      See identical proteins and their annotated locations for XP_005254076.1

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    5. XM_005254022.3XP_005254079.1  muscleblind-like protein 2 isoform X5

      See identical proteins and their annotated locations for XP_005254079.1

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    6. XM_024449300.1XP_024305068.1  muscleblind-like protein 2 isoform X6

      Conserved Domains (1) summary
      smart00356
      Location:135159
      ZnF_C3H1; zinc finger
    7. XM_024449301.1XP_024305069.1  muscleblind-like protein 2 isoform X7

      Conserved Domains (1) summary
      smart00356
      Location:135159
      ZnF_C3H1; zinc finger
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