Details for: MTMR2

Gene ID: 8898

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MTMR2

Ensembl ID: ENSG00000087053

Description: myotubularin related protein 2

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • suprabasal keratinocyte CL4033013
    CSI 14.84
    rCSI 24.22%
    PRS 37.12
  • stromal cell CL0000499
    CSI 11.83
    rCSI 33.27%
    PRS 65.51
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 11.56
    rCSI 14.01%
    PRS 53.22
  • melanocyte of skin CL1000458
    CSI 9.06
    rCSI 12.35%
    PRS 37.96
  • regular atrial cardiac myocyte CL0002129
    CSI 6.94
    rCSI 22.34%
    PRS 66.81
  • alveolar adventitial fibroblast CL4028006
    CSI 6.88
    rCSI 10.87%
    PRS 71.58
  • kidney connecting tubule epithelial cell CL1000768
    CSI 6.86
    rCSI 17.41%
    PRS 58.87
  • Mueller cell CL0000636
    CSI 6.65
    rCSI 15.17%
    PRS 60.79
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 6.04
    rCSI 13.77%
    PRS 64.65
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 5.22
    rCSI 4.72%
    PRS 66.61
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 5.11
    rCSI 12.42%
    PRS 48.92
  • chondrocyte CL0000138
    CSI 5.06
    rCSI 8.05%
    PRS 61.96
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 4.69
    rCSI 7.88%
    PRS 50.51
  • basal cell of epidermis CL0002187
    CSI 4.55
    rCSI 8.06%
    PRS 40.99
  • lung pericyte CL0009089
    CSI 4.49
    rCSI 11.86%
    PRS 77.8
  • cerebral cortex endothelial cell CL1001602
    CSI 4.34
    rCSI 7.51%
    PRS 59.72
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 4.14
    rCSI 4.21%
    PRS 80.74
  • glioblast CL0000030
    CSI 4.12
    rCSI 6.57%
    PRS 61.16
  • retinal rod cell CL0000604
    CSI 3.87
    rCSI 6.82%
    PRS 65.64
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.82
    rCSI 8.56%
    PRS 51.2
  • ependymal cell CL0000065
    CSI 3.77
    rCSI 7.66%
    PRS 47.58
  • retinal bipolar neuron CL0000748
    CSI 3.57
    rCSI 6.69%
    PRS 57.14
  • ON-bipolar cell CL0000749
    CSI 3.55
    rCSI 5.28%
    PRS 70.27
  • radial glial cell CL0000681
    CSI 3.25
    rCSI 4.51%
    PRS 67.93
  • interneuron CL0000099
    CSI 3.2
    rCSI 6.43%
    PRS 58.57
  • Kupffer cell CL0000091
    CSI 3.13
    rCSI 7.16%
    PRS 69.88
  • extravillous trophoblast CL0008036
    CSI 3.09
    rCSI 3.83%
    PRS 66.23
  • cardiac muscle cell CL0000746
    CSI 3.08
    rCSI 4.42%
    PRS 58.77
  • cerebellar granule cell CL0001031
    CSI 3.03
    rCSI 4.46%
    PRS 62.47
  • melanocyte CL0000148
    CSI 3.02
    rCSI 2.24%
    PRS 62.16
  • pancreatic D cell CL0000173
    CSI 2.86
    rCSI 2.81%
    PRS 72
  • stem cell CL0000034
    CSI 2.78
    rCSI 2.68%
    PRS 61.02
  • peripheral nervous system neuron CL2000032
    CSI 2.77
    rCSI 3.77%
    PRS 60.79
  • mesothelial cell CL0000077
    CSI 2.75
    rCSI 10.75%
    PRS 46.41
  • neural crest cell CL0011012
    CSI 2.7
    rCSI 2.13%
    PRS 56.56
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.56
    rCSI 3.63%
    PRS 65.45
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.53
    rCSI 2.77%
    PRS 72.68
  • mesodermal cell CL0000222
    CSI 2.49
    rCSI 2.98%
    PRS 67.68
  • pancreatic A cell CL0000171
    CSI 2.45
    rCSI 2.57%
    PRS 72.92
  • perivascular cell CL4033054
    CSI 2.42
    rCSI 3.31%
    PRS 75.09
  • blood vessel endothelial cell CL0000071
    CSI 2.4
    rCSI 4.99%
    PRS 66.36
  • hepatic stellate cell CL0000632
    CSI 2.33
    rCSI 8.75%
    PRS 61.31
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 2.3
    rCSI 7.2%
    PRS 54.72
  • fibroblast of cardiac tissue CL0002548
    CSI 2.25
    rCSI 10.77%
    PRS 69.25
  • multi-ciliated epithelial cell CL0005012
    CSI 2.21
    rCSI 2.21%
    PRS 62.82
  • vascular leptomeningeal cell CL4023051
    CSI 2.18
    rCSI 3.83%
    PRS 61.73
  • choroid plexus epithelial cell CL0000706
    CSI 2.18
    rCSI 3.57%
    PRS 58.36
  • endocardial cell CL0002350
    CSI 2.16
    rCSI 10.36%
    PRS 67.07
  • rod bipolar cell CL0000751
    CSI 2.15
    rCSI 3.87%
    PRS 62.44
  • adipocyte CL0000136
    CSI 2.15
    rCSI 2.76%
    PRS 60.78
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.11
    rCSI 2.63%
    PRS 48.56
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 1.98
    rCSI 2.29%
    PRS 61.97
  • Schwann cell CL0002573
    CSI 1.96
    rCSI 5.57%
    PRS 66.6
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 1.94
    rCSI 2.5%
    PRS 66
  • Bergmann glial cell CL0000644
    CSI 1.93
    rCSI 2.64%
    PRS 61.69
  • myoepithelial cell CL0000185
    CSI 1.92
    rCSI 4.85%
    PRS 76.36
  • innate lymphoid cell CL0001065
    CSI 1.9
    rCSI 3.93%
    PRS 68.99
  • ciliated epithelial cell CL0000067
    CSI 1.9
    rCSI 1.67%
    PRS 57.32
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 1.89
    rCSI 4.92%
    PRS 69.6
  • dendritic cell, human CL0001056
    CSI 1.86
    rCSI 2.86%
    PRS 78.58
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.84
    rCSI 2.94%
    PRS 73.51
  • colon epithelial cell CL0011108
    CSI 1.83
    rCSI 1.92%
    PRS 66.23
  • conjunctival epithelial cell CL1000432
    CSI 1.82
    rCSI 2.78%
    PRS 69.97
  • interstitial cell of Cajal CL0002088
    CSI 1.81
    rCSI 2.31%
    PRS 75.4
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 1.76
    rCSI 10.36%
    PRS 51.63
  • lung secretory cell CL1000272
    CSI 1.73
    rCSI 4.29%
    PRS 68.04
  • renal beta-intercalated cell CL0002201
    CSI 1.72
    rCSI 4.11%
    PRS 69.67
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.69
    rCSI 6.08%
    PRS 48.7
  • epithelial cell of proximal tubule CL0002306
    CSI 1.69
    rCSI 4.12%
    PRS 62.33
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.59
    rCSI 4.1%
    PRS 64.18
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.58
    rCSI 1.88%
    PRS 50.28
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.48
    rCSI 1.91%
    PRS 51.83
  • cardiac endothelial cell CL0010008
    CSI 1.46
    rCSI 5.87%
    PRS 68.52
  • cardiac neuron CL0010022
    CSI 1.41
    rCSI 4.52%
    PRS 66.52
  • retinal pigment epithelial cell CL0002586
    CSI 1.41
    rCSI 2.8%
    PRS 65.95
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.3
    rCSI 2.1%
    PRS 52.44
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.26
    rCSI 3.92%
    PRS 52.3
  • type B pancreatic cell CL0000169
    CSI 1.23
    rCSI 2.73%
    PRS 67.88
  • lung ciliated cell CL1000271
    CSI 1.21
    rCSI 1.4%
    PRS 60.22
  • GABAergic neuron CL0000617
    CSI 1.18
    rCSI 3.96%
    PRS 53.83
  • renal interstitial pericyte CL1001318
    CSI 1.1
    rCSI 3.03%
    PRS 64.27
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.08
    rCSI 1.91%
    PRS 76.7
  • glial cell CL0000125
    CSI 1.07
    rCSI 4.06%
    PRS 59.77
  • mesangial cell CL0000650
    CSI 1.05
    rCSI 4.3%
    PRS 80.54
  • parietal epithelial cell CL1000452
    CSI 1.05
    rCSI 2.8%
    PRS 60.25
  • retinal ganglion cell CL0000740
    CSI 1
    rCSI 2.21%
    PRS 55.2
  • neural progenitor cell CL0011020
    CSI 0.98
    rCSI 4.29%
    PRS 58.73
  • helper T cell CL0000912
    CSI 0.97
    rCSI 1.38%
    PRS 72.03
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.97
    rCSI 2.79%
    PRS 70.01
  • amacrine cell CL0000561
    CSI 0.96
    rCSI 2.78%
    PRS 58.55
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 0.95
    rCSI 1.67%
    PRS 49.62
  • retinal cone cell CL0000573
    CSI 0.93
    rCSI 1.5%
    PRS 58.74
  • direct pathway medium spiny neuron CL4023026
    CSI 0.9
    rCSI 21.66%
    PRS 49.64
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.85
    rCSI 20.61%
    PRS 50.26
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.85
    rCSI 3.2%
    PRS 51.1
  • endothelial cell of placenta CL0009092
    CSI 0.82
    rCSI 4.04%
    PRS 79.65
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 0.74
    rCSI 2.43%
    PRS 55.87
  • central nervous system neuron CL2000029
    CSI 0.73
    rCSI 5.37%
    PRS 55.87
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.72
    rCSI 4.52%
    PRS 60.74
  • podocyte CL0000653
    CSI 0.68
    rCSI 3.03%
    PRS 69.5
  • medium spiny neuron CL1001474
    CSI 0.2
    rCSI 1.6%
    PRS 56.4%
  • ON midget ganglion cell CL4033046
    CSI 0.3
    rCSI 5.5%
    PRS 59.6%
  • blood vessel smooth muscle cell CL0019018
    CSI 0.4
    rCSI 3.3%
    PRS 62.8%
  • ON parasol ganglion cell CL4033052
    CSI 0.4
    rCSI 5.8%
    PRS 60.2%
  • mesenchymal cell CL0008019
    CSI 0.6
    rCSI 1.5%
    PRS 63.1%
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 0.6
    rCSI 1.5%
    PRS 56.1%
  • podocyte CL0000653
    CSI 0.7
    rCSI 3.0%
    PRS 69.5%
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.7
    rCSI 4.5%
    PRS 60.7%
  • central nervous system neuron CL2000029
    CSI 0.7
    rCSI 5.4%
    PRS 55.9%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 0.7
    rCSI 2.4%
    PRS 55.9%
  • endothelial cell of placenta CL0009092
    CSI 0.8
    rCSI 4.0%
    PRS 79.7%
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.9
    rCSI 3.2%
    PRS 51.1%
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.9
    rCSI 20.6%
    PRS 50.3%
  • direct pathway medium spiny neuron CL4023026
    CSI 0.9
    rCSI 21.7%
    PRS 49.6%
  • retinal cone cell CL0000573
    CSI 0.9
    rCSI 1.5%
    PRS 58.7%
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.0
    rCSI 1.7%
    PRS 49.6%
  • amacrine cell CL0000561
    CSI 1.0
    rCSI 2.8%
    PRS 58.6%
  • microcirculation associated smooth muscle cell CL0008035
    CSI 1.0
    rCSI 2.8%
    PRS 70.0%
  • helper T cell CL0000912
    CSI 1.0
    rCSI 1.4%
    PRS 72.0%
  • neural progenitor cell CL0011020
    CSI 1.0
    rCSI 4.3%
    PRS 58.7%
  • retinal ganglion cell CL0000740
    CSI 1.0
    rCSI 2.2%
    PRS 55.2%
  • parietal epithelial cell CL1000452
    CSI 1.1
    rCSI 2.8%
    PRS 60.3%
  • mesangial cell CL0000650
    CSI 1.1
    rCSI 4.3%
    PRS 80.5%
  • glial cell CL0000125
    CSI 1.1
    rCSI 4.1%
    PRS 59.8%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.1
    rCSI 1.9%
    PRS 76.7%
  • renal interstitial pericyte CL1001318
    CSI 1.1
    rCSI 3.0%
    PRS 64.3%
  • GABAergic neuron CL0000617
    CSI 1.2
    rCSI 4.0%
    PRS 53.8%
  • lung ciliated cell CL1000271
    CSI 1.2
    rCSI 1.4%
    PRS 60.2%
  • type B pancreatic cell CL0000169
    CSI 1.2
    rCSI 2.7%
    PRS 67.9%
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.3
    rCSI 3.9%
    PRS 52.3%
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.3
    rCSI 2.1%
    PRS 52.4%
  • retinal pigment epithelial cell CL0002586
    CSI 1.4
    rCSI 2.8%
    PRS 66.0%
  • cardiac neuron CL0010022
    CSI 1.4
    rCSI 4.5%
    PRS 66.5%
  • cardiac endothelial cell CL0010008
    CSI 1.5
    rCSI 5.9%
    PRS 68.5%
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.5
    rCSI 1.9%
    PRS 51.8%
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.6
    rCSI 1.9%
    PRS 50.3%
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.6
    rCSI 4.1%
    PRS 64.2%
  • epithelial cell of proximal tubule CL0002306
    CSI 1.7
    rCSI 4.1%
    PRS 62.3%
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.7
    rCSI 6.1%
    PRS 48.7%
  • renal beta-intercalated cell CL0002201
    CSI 1.7
    rCSI 4.1%
    PRS 69.7%
  • lung secretory cell CL1000272
    CSI 1.7
    rCSI 4.3%
    PRS 68.0%
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 1.8
    rCSI 10.4%
    PRS 51.6%
  • interstitial cell of Cajal CL0002088
    CSI 1.8
    rCSI 2.3%
    PRS 75.4%
  • conjunctival epithelial cell CL1000432
    CSI 1.8
    rCSI 2.8%
    PRS 70.0%
  • colon epithelial cell CL0011108
    CSI 1.8
    rCSI 1.9%
    PRS 66.2%
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.8
    rCSI 2.9%
    PRS 73.5%
  • dendritic cell, human CL0001056
    CSI 1.9
    rCSI 2.9%
    PRS 78.6%
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 1.9
    rCSI 4.9%
    PRS 69.6%
  • ciliated epithelial cell CL0000067
    CSI 1.9
    rCSI 1.7%
    PRS 57.3%
  • innate lymphoid cell CL0001065
    CSI 1.9
    rCSI 3.9%
    PRS 69.0%
  • myoepithelial cell CL0000185
    CSI 1.9
    rCSI 4.9%
    PRS 76.4%
  • Bergmann glial cell CL0000644
    CSI 1.9
    rCSI 2.6%
    PRS 61.7%
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 1.9
    rCSI 2.5%
    PRS 66.0%
  • Schwann cell CL0002573
    CSI 2.0
    rCSI 5.6%
    PRS 66.6%
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.0
    rCSI 2.3%
    PRS 62.0%
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.1
    rCSI 2.6%
    PRS 48.6%
  • adipocyte CL0000136
    CSI 2.2
    rCSI 2.8%
    PRS 60.8%
  • rod bipolar cell CL0000751
    CSI 2.2
    rCSI 3.9%
    PRS 62.4%
  • endocardial cell CL0002350
    CSI 2.2
    rCSI 10.4%
    PRS 67.1%
  • choroid plexus epithelial cell CL0000706
    CSI 2.2
    rCSI 3.6%
    PRS 58.4%
  • vascular leptomeningeal cell CL4023051
    CSI 2.2
    rCSI 3.8%
    PRS 61.7%
  • multi-ciliated epithelial cell CL0005012
    CSI 2.2
    rCSI 2.2%
    PRS 62.8%
  • fibroblast of cardiac tissue CL0002548
    CSI 2.3
    rCSI 10.8%
    PRS 69.3%
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 2.3
    rCSI 7.2%
    PRS 54.7%
  • hepatic stellate cell CL0000632
    CSI 2.3
    rCSI 8.8%
    PRS 61.3%
  • blood vessel endothelial cell CL0000071
    CSI 2.4
    rCSI 5.0%
    PRS 66.4%
  • perivascular cell CL4033054
    CSI 2.4
    rCSI 3.3%
    PRS 75.1%
  • pancreatic A cell CL0000171
    CSI 2.5
    rCSI 2.6%
    PRS 72.9%
  • mesodermal cell CL0000222
    CSI 2.5
    rCSI 3.0%
    PRS 67.7%
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.5
    rCSI 2.8%
    PRS 72.7%
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.6
    rCSI 3.6%
    PRS 65.5%
  • neural crest cell CL0011012
    CSI 2.7
    rCSI 2.1%
    PRS 56.6%
  • mesothelial cell CL0000077
    CSI 2.8
    rCSI 10.8%
    PRS 46.4%
  • peripheral nervous system neuron CL2000032
    CSI 2.8
    rCSI 3.8%
    PRS 60.8%
  • stem cell CL0000034
    CSI 2.8
    rCSI 2.7%
    PRS 61.0%
  • pancreatic D cell CL0000173
    CSI 2.9
    rCSI 2.8%
    PRS 72.0%
  • melanocyte CL0000148
    CSI 3.0
    rCSI 2.2%
    PRS 62.2%
  • cerebellar granule cell CL0001031
    CSI 3.0
    rCSI 4.5%
    PRS 62.5%
  • cardiac muscle cell CL0000746
    CSI 3.1
    rCSI 4.4%
    PRS 58.8%
  • extravillous trophoblast CL0008036
    CSI 3.1
    rCSI 3.8%
    PRS 66.2%
  • Kupffer cell CL0000091
    CSI 3.1
    rCSI 7.2%
    PRS 69.9%
  • interneuron CL0000099
    CSI 3.2
    rCSI 6.4%
    PRS 58.6%
  • radial glial cell CL0000681
    CSI 3.3
    rCSI 4.5%
    PRS 67.9%
  • ON-bipolar cell CL0000749
    CSI 3.6
    rCSI 5.3%
    PRS 70.3%
  • retinal bipolar neuron CL0000748
    CSI 3.6
    rCSI 6.7%
    PRS 57.1%
  • ependymal cell CL0000065
    CSI 3.8
    rCSI 7.7%
    PRS 47.6%
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.8
    rCSI 8.6%
    PRS 51.2%
  • retinal rod cell CL0000604
    CSI 3.9
    rCSI 6.8%
    PRS 65.6%
  • glioblast CL0000030
    CSI 4.1
    rCSI 6.6%
    PRS 61.2%
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 4.1
    rCSI 4.2%
    PRS 80.7%
  • cerebral cortex endothelial cell CL1001602
    CSI 4.3
    rCSI 7.5%
    PRS 59.7%
  • lung pericyte CL0009089
    CSI 4.5
    rCSI 11.9%
    PRS 77.8%
  • basal cell of epidermis CL0002187
    CSI 4.6
    rCSI 8.1%
    PRS 41.0%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 4.7
    rCSI 7.9%
    PRS 50.5%
  • chondrocyte CL0000138
    CSI 5.1
    rCSI 8.1%
    PRS 62.0%
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 5.1
    rCSI 12.4%
    PRS 48.9%
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 5.2
    rCSI 4.7%
    PRS 66.6%
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 6.0
    rCSI 13.8%
    PRS 64.7%
  • Mueller cell CL0000636
    CSI 6.7
    rCSI 15.2%
    PRS 60.8%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 6.9
    rCSI 17.4%
    PRS 58.9%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MTMR2](/details-gene/8898) (myotubularin related protein 2) is a protein-coding gene located on chromosome 11q21. It encodes a dual-specificity phosphatase that plays a crucial role in lipid metabolism, specifically through the dephosphorylation of phosphatidylinositol-3-phosphate (PI(3)P) and phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) ([Link](https://pubmed.ncbi.nlm.nih.gov/11733541/)). This function is fundamental to regulating membrane trafficking, endosomal sorting, and myelin assembly. While expressed broadly, [MTMR2](/details-gene/8898) shows particularly high significance in diverse cell types including [suprabasal keratinocytes](/details-cell/CL4033013), [stromal cells](/details-cell/CL0000499), and various immune and neuronal cells. Clinically, loss-of-function mutations in [MTMR2](/details-gene/8898) are causative for Charcot-Marie-Tooth disease type 4B1 ([OMIM: [601382](https://omim.org/entry/601382)]), a severe demyelinating peripheral neuropathy ([Link](https://doi.org/10.1038/75542)). ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [MTMR2](/details-gene/8898) suggests a broad but vital role in cellular maintenance and specialized functions across multiple tissues. Its highest significance is observed in [suprabasal keratinocyte](/details-cell/CL4033013) (CSI: 14.84), indicating a potentially critical function in skin differentiation and the maintenance of the epidermal barrier. The gene's functional importance extends to structural and mesenchymal lineages, as evidenced by its high significance in [stromal cell](/details-cell/CL0000499) (CSI: 11.83), [alveolar adventitial fibroblast](/details-cell/CL4028006) (CSI: 6.88), and [chondrocyte](/details-cell/CL0000138) (CSI: 5.06). This suggests a role in extracellular matrix homeostasis and tissue architecture. Furthermore, [MTMR2](/details-gene/8898) is a significant component of the immune system, particularly in [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) (CSI: 11.56), where its role in membrane trafficking may be essential for receptor signaling and cell migration. Its expression in various neuronal and glial cell types, including [Mueller cell](/details-cell/CL0000636) and multiple glutamatergic and GABAergic neurons, is consistent with its established involvement in the nervous system. The diverse expression pattern highlights a fundamental role for [MTMR2](/details-gene/8898)-mediated phosphoinositide metabolism in a wide array of specialized cellular processes. ## Pathways and Molecular Function The molecular function of [MTMR2](/details-gene/8898) is centered on its activity as a lipid phosphatase. Gene Ontology annotations confirm its specific roles in [Phosphatidylinositol-3-phosphate phosphatase activity](/details-go/GO:0004438) and [Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity](/details-go/GO:0052629). These activities are integral to the broader Reactome pathway of [Phospholipid metabolism](/details-reactome/R-HSA-1483257), particularly the synthesis and turnover of phosphoinositides (PIPs) at various organelle membranes, including the [early endosome](/details-reactome/R-HSA-1660516) and [late endosome](/details-reactome/R-HSA-1660517). Biologically, this enzymatic function translates into the regulation of critical cellular processes. A prominent theme is its involvement in the nervous system, with annotations for [Myelin assembly](/details-go/GO:0032288), [Dendritic spine maintenance](/details-go/GO:0097062), and [Neuron development](/details-go/GO:0048666). This molecular role directly explains the demyelinating neuropathy phenotype observed in patients with [MTMR2](/details-gene/8898) mutations. Beyond the nervous system, its involvement in the [Negative regulation of endocytosis](/details-go/GO:0045806) and [Negative regulation of receptor internalization](/details-go/GO:0002091) provides a mechanistic basis for its importance in a wide range of cells, such as immune cells and keratinocytes, which rely on precise control of membrane trafficking for their function. The protein is localized to various cellular components, including the [Axon](/details-go/GO:0030424), [Dendrite](/details-go/GO:0030425), [Early endosome membrane](/details-go/GO:0031901), and [Cytoplasm](/details-go/GO:0005737), reflecting its widespread role in cellular signaling and transport. ## Research Directions The well-established link between [MTMR2](/details-gene/8898) deficiency and Charcot-Marie-Tooth disease provides a strong foundation for research, yet its high significance in non-neuronal cells like keratinocytes suggests uncharacterized functions that warrant investigation. **Proposed Hypotheses:** 1. The demyelination in Charcot-Marie-Tooth disease type 4B1 results from failed endosomal-lysosomal pathway maturation in Schwann cells due to the accumulation of PI(3)P and PI(3,5)P2, leading to impaired autophagy and clearance of myelin debris. 2. In the epidermis, [MTMR2](/details-gene/8898) is essential for proper terminal differentiation of keratinocytes by regulating the endosomal transport and secretion of lipids required for the formation of the lamellar barrier in the stratum corneum. A defect in this process could lead to impaired skin barrier function. **Experimental Approach:** To test the second hypothesis regarding the role of [MTMR2](/details-gene/8898) in skin barrier formation, a compelling experiment would be to generate a keratinocyte-specific conditional knockout mouse model (e.g., using KRT14-Cre). The barrier function of these mice could be assessed *in vivo* using transepidermal water loss (TEWL) measurements and dye penetration assays. Skin biopsies would be analyzed via transmission electron microscopy to examine the ultrastructure of the lamellar bodies and the stratum corneum. Furthermore, primary keratinocytes from these mice could be used to generate 3D organotypic skin equivalents to study differentiation marker expression (e.g., Loricrin, Filaggrin) and lipid composition via mass spectrometry, providing a mechanistic link between [MTMR2](/details-gene/8898)-mediated lipid metabolism and epidermal integrity. **Therapeutic Potential:** As Charcot-Marie-Tooth disease type 4B1 is a monogenic, loss-of-function disorder, the therapeutic strategy would involve restoring [MTMR2](/details-gene/8898) function rather than inhibiting it. Given that [MTMR2](/details-gene/8898) is an enzyme, small molecule activators are theoretically possible but notoriously difficult to develop. A more promising long-term approach would be gene replacement therapy. An adeno-associated virus (AAV) vector designed to specifically target Schwann cells could be used to deliver a functional copy of the [MTMR2](/details-gene/8898) gene. However, the broad expression of [MTMR2](/details-gene/8898) suggests that off-target effects and the need for systemic versus localized delivery would be significant challenges to overcome.

Genular Protein ID: 4025488370

Symbol: MTMR2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10470851

Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10470851

DOI: 10.1093/dnares/6.3.197

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9736772

Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

PubMed ID: 9736772

DOI: 10.1093/hmg/7.11.1703

PubMed ID: 8640223

Title: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

PubMed ID: 8640223

DOI: 10.1038/ng0696-175

PubMed ID: 10802647

Title: Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

PubMed ID: 10802647

DOI: 10.1038/75542

PubMed ID: 11733541

Title: Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.

PubMed ID: 11733541

DOI: 10.1074/jbc.m111087200

PubMed ID: 12668758

Title: Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.

PubMed ID: 12668758

DOI: 10.1073/pnas.0431052100

PubMed ID: 12847286

Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.

PubMed ID: 12847286

DOI: 10.1073/pnas.1033097100

PubMed ID: 15998640

Title: The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.

PubMed ID: 15998640

DOI: 10.1074/jbc.m505159200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21372139

Title: Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.

PubMed ID: 21372139

DOI: 10.1074/jbc.m110.209122

PubMed ID: 14690594

Title: Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

PubMed ID: 14690594

DOI: 10.1016/s1097-2765(03)00486-6

PubMed ID: 16410353

Title: Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.

PubMed ID: 16410353

DOI: 10.1073/pnas.0510006103

PubMed ID: 12398840

Title: A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

PubMed ID: 12398840

DOI: 10.1016/s0960-8966(02)00046-9

PubMed ID: 35580604

Title: Myotubularin-related phosphatase 5 is a critical determinant of autophagy in neurons.

PubMed ID: 35580604

DOI: 10.1016/j.cub.2022.04.053

PubMed ID: 34718573

Title: Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.

PubMed ID: 34718573

DOI: 10.1093/hmg/ddab311

Sequence Information:

  • Length: 643
  • Mass: 73381
  • Checksum: 10FD6508D0CDA719
  • Sequence:
  • MEKSSSCESL GSQPAAARPP SVDSLSSAST SHSENSVHTK SASVVSSDSI STSADNFSPD 
    LRVLRESNKL AEMEEPPLLP GENIKDMAKD VTYICPFTGA VRGTLTVTNY RLYFKSMERD 
    PPFVLDASLG VINRVEKIGG ASSRGENSYG LETVCKDIRN LRFAHKPEGR TRRSIFENLM 
    KYAFPVSNNL PLFAFEYKEV FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY 
    PALLVVPANI PDEELKRVAS FRSRGRIPVL SWIHPESQAT ITRCSQPMVG VSGKRSKEDE 
    KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF LDIHNIHVMR 
    ESLRKLKEIV YPNIEETHWL SNLESTHWLE HIKLILAGAL RIADKVESGK TSVVVHCSDG 
    WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE KEWLSFGHRF QLRVGHGDKN HADADRSPVF 
    LQFIDCVWQM TRQFPTAFEF NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKRTVSL 
    WSYINSQLED FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHNRYKEL 
    LAKRAELQKK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV