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Mbnl2 muscleblind like splicing factor 2 [ Mus musculus (house mouse) ]

Gene ID: 105559, updated on 21-Apr-2024

Summary

Official Symbol
Mbnl2provided by MGI
Official Full Name
muscleblind like splicing factor 2provided by MGI
Primary source
MGI:MGI:2145597
See related
Ensembl:ENSMUSG00000022139 AllianceGenome:MGI:2145597
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MBLL; mKIAA4072; 1110002M11Rik
Summary
Predicted to enable RNA binding activity and sequence-specific double-stranded DNA binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and retina. Orthologous to human MBNL2 (muscleblind like splicing regulator 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 30.1), cerebellum adult (RPKM 20.2) and 28 other tissues See more
Orthologs
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Genomic context

Location:
14 E4; 14 64.44 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (120513077..120669110)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (120275652..120431698)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_37681 Neighboring gene 60S ribosomal protein L39 pseudogene Neighboring gene STARR-seq mESC enhancer starr_37683 Neighboring gene predicted gene 4681 Neighboring gene predicted gene, 41250 Neighboring gene STARR-positive B cell enhancer ABC_E7354 Neighboring gene STARR-positive B cell enhancer ABC_E2435 Neighboring gene STARR-positive B cell enhancer ABC_E8901 Neighboring gene STARR-seq mESC enhancer starr_37684 Neighboring gene predicted gene, 52122 Neighboring gene STARR-seq mESC enhancer starr_37689 Neighboring gene STARR-seq mESC enhancer starr_37690 Neighboring gene STARR-seq mESC enhancer starr_37691 Neighboring gene predicted gene, 26679 Neighboring gene STARR-positive B cell enhancer ABC_E11582 Neighboring gene predicted gene, 57500 Neighboring gene STARR-seq mESC enhancer starr_37692 Neighboring gene STARR-seq mESC enhancer starr_37693 Neighboring gene RAS related protein 2a Neighboring gene predicted gene, 41251

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA4072

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
muscleblind-like protein 2
Names
muscleblind-like 2

NCBI Reference Sequences (RefSeq)

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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_001360376.1NP_001347305.1  muscleblind-like protein 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AI837313, AK085709, AK153261, BB673209, BC079898, BE336239
    Consensus CDS
    CCDS49567.1
    UniProtKB/Swiss-Prot
    Q3TPH4, Q5DTQ0, Q8BUD8, Q8C181
    Related
    ENSMUSP00000154559.2, ENSMUST00000227594.2
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  2. NM_001360377.1NP_001347306.1  muscleblind-like protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AI837313, AK085709, BB673209, BC079898, BE336239, BY198796
    Consensus CDS
    CCDS88727.1
    UniProtKB/TrEMBL
    A0A2K6EDM5
    Related
    ENSMUSP00000126186.3, ENSMUST00000167459.3
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  3. NM_001360378.1NP_001347307.1  muscleblind-like protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AI836577, AI837313, AK085709, BB673209, BC079898, BE336239, BY198796
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  4. NM_001360379.1NP_001347308.1  muscleblind-like protein 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AI837313, AI852388, AK085709, BB673209, BC079898, BE336239, BY198796
    UniProtKB/TrEMBL
    D0EX61
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  5. NM_001360380.1NP_001347309.1  muscleblind-like protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AI837313, AK085709, BB673209, BC079898, BE336239, BY198796, CX734524
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  6. NM_175341.4NP_780550.1  muscleblind-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_780550.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer isoform (1).
    Source sequence(s)
    AI461681, AK085709, BB673209, BC079898, BE336239, BY198796
    Consensus CDS
    CCDS49567.1
    UniProtKB/Swiss-Prot
    Q3TPH4, Q5DTQ0, Q8BUD8, Q8C181
    Related
    ENSMUSP00000085763.7, ENSMUST00000088419.13
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  7. NM_207515.2NP_997398.1  muscleblind-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_997398.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding region segment, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AI461681, AK085709, BB673209, BC079898, BE336239, BY198796
    Consensus CDS
    CCDS49568.1
    UniProtKB/Swiss-Prot
    Q8C181
    Related
    ENSMUSP00000153973.2, ENSMUST00000227012.2
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    120513077..120669110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158369.1XP_036014262.1  muscleblind-like protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A2K6EDM5
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  2. XM_030247589.2XP_030103449.1  muscleblind-like protein 2 isoform X3

    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  3. XM_036158370.1XP_036014263.1  muscleblind-like protein 2 isoform X2

    UniProtKB/TrEMBL
    D0EX61
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  4. XM_036158367.1XP_036014260.1  muscleblind-like protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A2K6EDM5
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger
  5. XM_030247588.1XP_030103448.1  muscleblind-like protein 2 isoform X2

    UniProtKB/TrEMBL
    D0EX61
    Conserved Domains (1) summary
    smart00356
    Location:178202
    ZnF_C3H1; zinc finger