AutismKB 2.0

Annotation Details for MTMR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MTMR2 ( CMT4B,CMT4B1,KIAA1073 )
Gene Full Name: myotubularin related protein 2
Band: 11q21
Quick LinksEntrez ID:8898; OMIM: 603557; Uniprot ID:MTMR2_HUMAN; ENSEMBL ID: ENSG00000087053; HGNC ID: 7450
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus12837694
GO:0005737IDA-cytoplasm12837694
GO:0005774IEA-vacuolar membrane-
GO:0005829IDA-cytosol12668758
GO:0005829ISS-cytosol-
GO:0005829TAS-cytosol-
GO:0008021ISS-synaptic vesicle-
GO:0014069ISS-postsynaptic density-
GO:0030424ISS-axon-
GO:0030425ISS-dendrite-
GO:0031901IEA-early endosome membrane-
GO:0043197ISS-dendritic spine-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0070062IDA-extracellular exosome18570454
GO:0097060ISS-synaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0004438IDA-phosphatidylinositol-3-phosphatase activity12668758
GO:0004438TAS-phosphatidylinositol-3-phosphatase activity-
GO:0004725IEA-protein tyrosine phosphatase activity-
GO:0005515IPI-protein binding12837694
GO:0008138NAS-protein tyrosine/serine/threonine phosphatase activity9736772
GO:0042803IEA-protein homodimerization activity-
GO:0052629IDA-phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity12668758
GO:0052629TAS-phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity-
GO ID Evidence Qualifier GO_term References
GO:0002091ISS-negative regulation of receptor internalization-
GO:0006470NAS-protein dephosphorylation9736772
GO:0006661TAS-phosphatidylinositol biosynthetic process-
GO:0031642IEA-negative regulation of myelination-
GO:0032288IEA-myelin assembly-
GO:0035335IEA-peptidyl-tyrosine dephosphorylation-
GO:0045806ISS-negative regulation of endocytosis-
GO:0046855IEA-inositol phosphate dephosphorylation-
GO:0046856IDA-phosphatidylinositol dephosphorylation12668758
GO:0048666IEA-neuron development-
GO:0051262IEA-protein tetramerization-
GO:0090394ISS-negative regulation of excitatory postsynaptic potential-
GO:0097062ISS-dendritic spine maintenance-
GO:2000643ISS-positive regulation of early endosome to late endosome transport-
GO:2000645ISS-negative regulation of receptor catabolic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MTMR2SBF111441512668758 Affinity Capture-MS; Affinity Capture-Western
MTMR2SBF111221212668758 Affinity Capture-MS; Affinity Capture-Western
MTMR2MTMR211441512668758 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1924366
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-990715-14'