myotubularin related protein 2

Summary
Gene Symbol
  • MTMR2
Aliases
  • KIAA1073
  • phosphatidylinositol-3-phosphatase
  • phosphoinositide-3-phosphatase
Organism
Homo sapiens (human)
External Links
NCBI Gene
8898
HGNC
7450
KEGG Gene ID
hsa:8898
PubChem
8898
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell projection
  • Charcot-Marie-Tooth disease
  • Coiled coil
  • Cytoplasm
  • Disease variant
  • Endosome
  • Hydrolase
  • Lipid metabolism
  • Membrane
  • Neurodegeneration
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q13614
  • Phosphatidylinositol-3,5-bisphosphate 3-phosphatase
  • Phosphatidylinositol-3-phosphate phosphatase
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000087053

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K18081
Name
myotubularin-related protein 1/2 [EC:3.1.3.64 3.1.3.95]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 87 in total
DO ID Disease Name Source
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050540 Charcot-Marie-Tooth disease type 3
DOID:0050541 Charcot-Marie-Tooth disease type 4
DOID:0060249 scoliosis
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070161 hereditary sensory and autonomic neuropathy type 2
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy
DOID:0110148 Charcot-Marie-Tooth disease type 1A
DOID:0110149 Charcot-Marie-Tooth disease type 1F
The Human Phenotype Ontology
Displaying entries 1 - 10 of 13 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001270 Motor delay
HP:0001762 Talipes equinovarus
HP:0002460 Distal muscle weakness
HP:0002650 Scoliosis
HP:0002936 Distal sensory impairment
HP:0003431 Decreased motor nerve conduction velocity
HP:0003693 Distal amyotrophy
HP:0003701 Proximal muscle weakness
HP:0004336 Myelin outfoldings
Displaying 1 entry
Disease ID Disease Name
OMIM:601382
  • Charcot-Marie-Tooth disease type 4B1

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Last updated: August 19, 2024