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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
    genome feature 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
    19
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 ENSMUSG00200045374
 protein coding gene Chr9:10561412-10619487 (+)
A/J ENSMUSG00195035613
 protein coding gene Chr9:10446879-10504951 (+)
AKR/J ENSMUSG00220027098
 protein coding gene Chr9:10424364-10482435 (+)
BALB/cJ ENSMUSG00180034460
 protein coding gene Chr9:10570828-10628900 (+)
C3H/HeJ ENSMUSG00175034683
 protein coding gene Chr9:10512632-10570701 (+)
C57BL/6NJ ENSMUSG00215018492
 protein coding gene Chr9:10512434-10570511 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031776
 protein coding gene Chr9:9983447-10041253 (+)
CAST/EiJ ENSTCUG00005027263
 protein coding gene Chr9:10535819-10589994 (+)
CBA/J ENSMUSG00210037369
 protein coding gene Chr9:10548882-10606958 (+)
DBA/2J ENSMUSG00185023561
 protein coding gene Chr9:10637635-10695706 (+)
FVB/NJ ENSMUSG00205035428
 protein coding gene Chr9:10627244-10685324 (+)
JF1/MsJ ENSUMUG00000045323
 protein coding gene Chr9:10615984-10669926 (+)
LP/J ENSMUSG00230042901
 protein coding gene Chr9:11059542-11117617 (+)
NOD/ShiLtJ ENSMUSG00190022305
 protein coding gene Chr9:10548165-10606229 (+)
NZO/HlLtJ ENSMUSG00225048786
 protein coding gene Chr9:10972544-11030654 (+)
PWK/PhJ ENSLUMG00010042166
 protein coding gene Chr9:10560473-10613952 (+)
SPRET/EiJ ENSMSPG00010023851
 protein coding gene Chr9:10723663-10775985 (+)
WSB/EiJ ENSIUOG00005037588
 protein coding gene Chr9:10221418-10275604 (+)



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
    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
    17 phenotypes from 5 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    20 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
    79
  • GO References
    16
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
    919
  • Tissues
    232
  • cDNA Data
    69
  • 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 72
      Genomic 1
      cDNA 69
      Primer pair 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 16
      Phenotypes 20
    • 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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory