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Standards Ontologies Notations
myotubularin related protein 14

Summary
Gene Symbol
  • MTMR14
Aliases
  • FLJ22405
  • FLJ90311
  • egg-derived tyrosine phosphatase homolog (Drosophila)
  • hEDTP
  • hJumpy
Organism
Homo sapiens (human)
External Links
NCBI Gene
64419
HGNC
26190
KEGG Gene ID
hsa:64419
PubChem
64419
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Glycoprotein
  • Hydrolase
  • Methylation
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
Q8WYY9
Q8NCE2
  • HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
  • hJumpy
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
phosphatidylinositol biosynthetic process
macroautophagy
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
Human Protein Atlas
ENSG00000163719

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.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K18086
Name
myotubularin-related protein 14 [EC:3.1.3.64 3.1.3.95]
References
Disease
Disease Ontology
Displaying entries 41 - 45 of 45 in total
DO ID Disease Name Source
DOID:686 liver carcinoma
DOID:8488 polyhydramnios
DOID:8545 malignant hyperthermia
DOID:9923 developmental coordination disorder
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 21 - 30 of 47 in total
HPO ID HPO Term
HP:0002747 Respiratory insufficiency due to muscle weakness
HP:0003307 Hyperlordosis
HP:0003388 Easy fatigability
HP:0003458 EMG: myopathic abnormalities
HP:0003477 Peripheral axonal neuropathy
HP:0003577 Congenital onset
HP:0003593 Infantile onset
HP:0003677 Slowly progressive
HP:0003687 Centrally nucleated skeletal muscle fibers
HP:0003701 Proximal muscle weakness
Displaying all 2 entries
Disease ID Disease Name
ORPHA:169189
  • autosomal dominant centronuclear myopathy
OMIM:160150
  • autosomal dominant centronuclear myopathy
PubChem Disease
MedGen Diseases
OMIM Phenotypes
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 31 - 40 of 87 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
460149 PANTR30346
100435473 PONAB26749
484668 CANLF07304
123799184 URSAM06981
100474479 AILME06803
101691252 MUSPF19483
101083154 FELCA02996
122203458 PANLE21965
101327198 TURTR13794
118904340 BALMU26633
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024