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

Gene ID: 10150, updated on 12-Oct-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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 Functions

What'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 109.20190905

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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