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Mtmr2 Gene Detail
Summary
  • Symbol
    Mtmr2
  • Name
    myotubularin related protein 2
  • Synonyms
    6030445P13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924366
    NCBI Gene: 77116
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:13659706-13717777 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 3.44 cM, cytoband A1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1256 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924366
 protein coding gene Chr9:13659706-13720192 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034344
 protein coding gene Chr9:10667360-10725545 (+)
A/J MGP_AJ_G0034322
 protein coding gene Chr9:10644186-10701210 (+)
AKR/J MGP_AKRJ_G0034250
 protein coding gene Chr9:10615345-10677125 (+)
BALB/cJ MGP_BALBcJ_G0034316
 protein coding gene Chr9:10394299-10450236 (+)
C3H/HeJ MGP_C3HHeJ_G0034027
 protein coding gene Chr9:10909594-10965518 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034838
 protein coding gene Chr9:11014428-11074823 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031776
 protein coding gene Chr9:9983447-10041253 (+)
CAST/EiJ MGP_CASTEiJ_G0033354
 protein coding gene Chr9:10745859-10802519 (+)
CBA/J MGP_CBAJ_G0034000
 protein coding gene Chr9:11525140-11584845 (+)
DBA/2J MGP_DBA2J_G0034157
 protein coding gene Chr9:10504505-10568933 (+)
FVB/NJ MGP_FVBNJ_G0034102
 protein coding gene Chr9:10129925-10188286 (+)
LP/J MGP_LPJ_G0034243
 protein coding gene Chr9:10733325-10791145 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034146
 protein coding gene Chr9:12613104-12670778 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034857
 protein coding gene Chr9:10656677-10714592 (+)
PWK/PhJ MGP_PWKPhJ_G0033060
 protein coding gene Chr9:10580856-10637709 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032896
 protein coding gene Chr9:10726718-10781018 (+)
WSB/EiJ MGP_WSBEiJ_G0033470
 protein coding gene Chr9:10477313-10531505 (+)



Homology
more
  • Human Ortholog
    MTMR2, myotubularin related protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTMR2, myotubularin related protein 2
  • Synonyms
    CMT4B, CMT4B1
  • Links
    NCBI Gene ID: 8898
    neXtProt AC: NX_Q13614
    UniProt: Q13614

  • Chr Location
    11q21; chr11:95821766-95925315 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mtmr2 mouse models; 1 with human MTMR2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 5 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    18 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.
Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    11
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
    964
  • Tissues
    210
  • cDNA Data
    67
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031918 Ensembl Gene Model | MGI Sequence Detail 58072 C57BL/6J ±  kb
    transcript ENSMUST00000034396 Ensembl | MGI Sequence Detail 3788 Not Applicable  
    polypeptide ENSMUSP00000034396 Ensembl | MGI Sequence Detail 643 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 70
      Genomic 1
      cDNA 67
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    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