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Mbnl2 Gene Detail
Summary
  • Symbol
    Mbnl2
  • Name
    muscleblind like splicing factor 2
  • Synonyms
    1110002M11Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2145597
    NCBI Gene: 105559
  • Alliance
    gene page
  • Transcription Start Sites
    30 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:120513081-120669109 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 64.44 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4514 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2145597
 protein coding gene Chr14:120513077-120669110 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021657
 protein coding gene Chr14:117979011-118142861 (+)
A/J MGP_AJ_G0021617
 protein coding gene Chr14:113465047-113628731 (+)
AKR/J MGP_AKRJ_G0021593
 protein coding gene Chr14:117123884-117287774 (+)
BALB/cJ MGP_BALBcJ_G0021623
 protein coding gene Chr14:114001627-114162263 (+)
C3H/HeJ MGP_C3HHeJ_G0021401
 protein coding gene Chr14:117016364-117181431 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022063
 protein coding gene Chr14:122545353-122711217 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019601
 protein coding gene Chr14:109407575-109561738 (+)
CAST/EiJ MGP_CASTEiJ_G0020916
 protein coding gene Chr14:114885301-115048364 (+)
CBA/J MGP_CBAJ_G0021369
 protein coding gene Chr14:127224412-127399144 (+)
DBA/2J MGP_DBA2J_G0021492
 protein coding gene Chr14:113345719-113506898 (+)
FVB/NJ MGP_FVBNJ_G0021470
 protein coding gene Chr14:111652680-111810406 (+)
LP/J MGP_LPJ_G0021560
 protein coding gene Chr14:118975177-119137062 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021497
 protein coding gene Chr14:132287688-132455901 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022086
 protein coding gene Chr14:116661250-116822901 (+)
PWK/PhJ MGP_PWKPhJ_G0020660
 protein coding gene Chr14:110377611-110536833 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020498
 protein coding gene Chr14:112884515-113051228 (+)
WSB/EiJ MGP_WSBEiJ_G0020972
 protein coding gene Chr14:117401860-117566740 (+)



Homology
more
  • Human Ortholog
    MBNL2, muscleblind like splicing regulator 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBNL2, muscleblind like splicing regulator 2
  • Synonyms
    MBLL, MBLL39, PRO2032
  • Links
    NCBI Gene ID: 10150
    neXtProt AC: NX_Q5VZF2
    UniProt: Q5VZF2

  • Chr Location
    13q32.1; chr13:97141834-97394120 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 3 genetic backgrounds
    27 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    847
  • Tissues
    97
  • cDNA Data
    265
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022139 Ensembl Gene Model | MGI Sequence Detail 156029 C57BL/6J ±  kb
    transcript ENSMUST00000167459 Ensembl | MGI Sequence Detail 4534 Not Applicable  
    polypeptide ENSMUSP00000126186 Ensembl | MGI Sequence Detail 385 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 275
      cDNA 268
      Primer pair 7

      Microarray probesets 11
    Other
    Accession IDs
    less
    MGI:1924156, MGI:2145694, MGI:2145698, MGI:2145881, MGI:3035344
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 18
      Diseases 1
      Gene Ontology 8
      Phenotypes 34
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:357928 Piasecka A, et al., MBNL splicing factors regulate the microtranscriptome of skeletal muscles. Nucleic Acids Res. 2024 Oct 28;52(19):12055-12073
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory