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

Gene ID: 10150, updated on 16-Jul-2021

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
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Genomic context

See MBNL2 in Genome Data Viewer
Location:
13q32.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (97141834..97394120)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (97794088..98046374)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268107 Neighboring gene long intergenic non-protein coding RNA 359 Neighboring gene RN7SK pseudogene 7 Neighboring gene oxoglutarate receptor 1 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

Associated conditions

Description Tests
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

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)

NEW Try the new Transcript table

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_001306070.2NP_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. Variants 4 and 15-17 all encode the same isoform (4).
    Source sequence(s)
    AL161430, AL442067
    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_001382649.1NP_001369578.1  muscleblind-like protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1 and 6, encodes isoform 1.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  3. NM_001382650.1NP_001369579.1  muscleblind-like protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1 and 5, encodes isoform 1.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  4. NM_001382651.1NP_001369580.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 3 and 8-14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  5. NM_001382652.1NP_001369581.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 3, 7, and 9-14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  6. NM_001382653.1NP_001369582.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 3, 7, 8, and 10-14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  7. NM_001382654.1NP_001369583.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 3, 7-9, and 11-14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Related
    ENSP00000380726.1, ENST00000397601.5
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  8. NM_001382656.1NP_001369585.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 3, 7-10, and 12-14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  9. NM_001382660.1NP_001369589.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 3, 7-11, 13, and 14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  10. NM_001382661.1NP_001369590.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 3, 7-12, and 14, encodes isoform 3.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  11. NM_001382663.1NP_001369592.1  muscleblind-like protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 3 and 7-13, encodes isoform 3.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  12. NM_001382666.1NP_001369595.1  muscleblind-like protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 4, 16, and 17, encodes isoform 4.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  13. NM_001382667.1NP_001369596.1  muscleblind-like protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 4, 15, and 17, encodes isoform 4.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  14. NM_001382668.1NP_001369597.1  muscleblind-like protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 4, 15, and 16, encodes isoform 4.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  15. NM_001382669.1NP_001369598.1  muscleblind-like protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variant 19, encodes isoform 5.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  16. NM_001382670.1NP_001369599.1  muscleblind-like protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variant 18, encodes isoform 5.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  17. NM_001382671.1NP_001369600.1  muscleblind-like protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 21 and 22, encodes isoform 6.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  18. NM_001382672.1NP_001369601.1  muscleblind-like protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 20 and 22, encodes isoform 6.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  19. NM_001382673.1NP_001369602.1  muscleblind-like protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22), as well as variants 20 and 21, encodes isoform 6.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  20. NM_001382674.1NP_001369603.1  muscleblind-like protein 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23), as well as variants 24 and 25, encodes isoform 7.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  21. NM_001382675.1NP_001369604.1  muscleblind-like protein 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24), as well as variants 23 and 25, encodes isoform 7.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  22. NM_001382676.1NP_001369605.1  muscleblind-like protein 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25), as well as variants 23 and 24, encodes isoform 7.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  23. NM_001382677.1NP_001369606.1  muscleblind-like protein 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26), as well as variants 27-29, encodes isoform 8.
    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  24. NM_001382678.1NP_001369607.1  muscleblind-like protein 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27), as well as variants 26, 28, and 29, encodes isoform 8.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  25. NM_001382679.1NP_001369608.1  muscleblind-like protein 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (28), as well as variants 26, 27, and 29, encodes isoform 8.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  26. NM_001382680.1NP_001369609.1  muscleblind-like protein 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (29), as well as variants 26-28, encodes isoform 8.
    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  27. NM_001382681.1NP_001369610.1  muscleblind-like protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  28. NM_001382682.1NP_001369611.1  muscleblind-like protein 2 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:83107
    ZnF_C3H1; zinc finger
  29. NM_001382683.1NP_001369612.1  muscleblind-like protein 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (32) encodes the longest isoform (10).
    Source sequence(s)
    AL161430, AL442067
    Related
    ENSP00000505596.1, ENST00000679496.1
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  30. NM_001382684.1NP_001369613.1  muscleblind-like protein 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  31. NM_001382685.1NP_001369614.1  muscleblind-like protein 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  32. NM_001382686.1NP_001369615.1  muscleblind-like protein 2 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  33. NM_001382687.1NP_001369616.1  muscleblind-like protein 2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  34. NM_001382688.1NP_001369617.1  muscleblind-like protein 2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  35. NM_001382689.1NP_001369618.1  muscleblind-like protein 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:135159
    ZnF_C3H1; zinc finger
  36. NM_001382690.1NP_001369619.1  muscleblind-like protein 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:135159
    ZnF_C3H1; zinc finger
  37. NM_001382691.1NP_001369620.1  muscleblind-like protein 2 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:135159
    ZnF_C3H1; zinc finger
  38. NM_001382692.1NP_001369621.1  muscleblind-like protein 2 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:135159
    ZnF_C3H1; zinc finger
  39. NM_001382693.1NP_001369622.1  muscleblind-like protein 2 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:123147
    ZnF_C3H1; zinc finger
  40. NM_001382694.1NP_001369623.1  muscleblind-like protein 2 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (2) summary
    PTZ00449
    Location:106263
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  41. NM_001382695.1NP_001369624.1  muscleblind-like protein 2 isoform 22

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  42. NM_001382696.1NP_001369625.1  muscleblind-like protein 2 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL359925, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:83107
    ZnF_C3H1; zinc finger
  43. NM_001382697.1NP_001369626.1  muscleblind-like protein 2 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AL161430, AL442067
    Conserved Domains (1) summary
    smart00356
    Location:1740
    ZnF_C3H1; zinc finger
  44. 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), as well as variants 5 and 6, encodes 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
  45. NM_207304.3NP_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. Variants 3 and 7-14 all encode the same isoform (3).
    Source sequence(s)
    AL161430, AL442067
    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 Updated Annotation Release 109.20210514

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
    97141834..97394120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449300.1XP_024305068.1  muscleblind-like protein 2 isoform X6

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

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005757.4: Suppressed sequence

    Description
    NM_005757.4: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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