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Mbnl3 Gene Detail
Summary
  • Symbol
    Mbnl3
  • Name
    muscleblind like splicing factor 3
  • Synonyms
    A530038J18Rik, CHCR, E430034C16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444912
    NCBI Gene: 171170
  • Gene Overview
    MyGene.info: MBNL3
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:51117269-51206532 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 28.03 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    230 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444912
protein coding gene ChrX:51113494-51206532 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035711
protein coding gene ChrX:46281706-46378270 (-)
A/J MGP_AJ_G0035694
protein coding gene ChrX:46147716-46243789 (-)
AKR/J MGP_AKRJ_G0035614
protein coding gene ChrX:47417527-47517162 (-)
BALB/cJ MGP_BALBcJ_G0035680
protein coding gene ChrX:45743734-45841940 (-)
C3H/HeJ MGP_C3HHeJ_G0035384
protein coding gene ChrX:46550339-46641009 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036209
protein coding gene ChrX:47387456-47479682 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033061
protein coding gene ChrX:43706594-43796561 (-)
CAST/EiJ MGP_CASTEiJ_G0034675
protein coding gene ChrX:34008259-34102523 (-)
CBA/J MGP_CBAJ_G0035358
protein coding gene ChrX:48702132-48812082 (-)
DBA/2J MGP_DBA2J_G0035513
protein coding gene ChrX:45975709-46067804 (-)
FVB/NJ MGP_FVBNJ_G0035461
protein coding gene ChrX:45681682-45782126 (-)
LP/J MGP_LPJ_G0035600
protein coding gene ChrX:46620105-46715609 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035500
protein coding gene ChrX:50235609-50347044 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036227
protein coding gene ChrX:46179081-46274411 (-)
PWK/PhJ MGP_PWKPhJ_G0034374
protein coding gene ChrX:33513206-33602769 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034219
protein coding gene ChrX:34799872-34886608 (-)
WSB/EiJ MGP_WSBEiJ_G0034819
protein coding gene ChrX:45730847-45823576 (-)



Homology
more
  • Human Ortholog
    MBNL3, muscleblind like splicing regulator 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MBNL3, muscleblind like splicing regulator 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHCR, MBLX, MBLX39, MBXL
  • Links
    NCBI Gene ID: 55796
    neXtProt AC: NX_Q9NUK0
    UniProt: Q9NUK0

  • Chr Location
    Xq26.2; chrX:132369314-132490030 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 23101
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MBNL3
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    2 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for an allele lacking exon 2 exhibit impaired muscle regeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036109 Ensembl Gene Model | MGI Sequence Detail 89264 C57BL/6J ±  kb
    transcript ENSMUST00000114876 Ensembl | MGI Sequence Detail 2243 Not Applicable  
    polypeptide ENSMUSP00000110526 Ensembl | MGI Sequence Detail 342 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 47
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2147904, MGI:2443528
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 4
      Gene Ontology 6
      Phenotypes 2
    • Earliest
      J:77593 Squillace RM, et al., Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Dev Biol. 2002 Oct 1;250(1):218-30
    • Latest
      J:243797 Thomas JD, et al., Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. Genes Dev. 2017 Jun 01;31(11):1122-1133

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory