Gene

mtmr2

ID
ZDB-GENE-990715-14
Name
myotubularin related protein 2
Symbol
mtmr2 Nomenclature History
Previous Names
  • zgc:153915
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphatase activity; and protein tyrosine phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Predicted to act upstream of or within dephosphorylation and lipid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mtmr2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease type 4B1 Alliance Charcot-Marie-Tooth disease, type 4B1 601382
Associated With mtmr2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR016130 Protein-tyrosine phosphatase, active site
Domain IPR000387 Tyrosine specific protein phosphatases domain
Domain IPR003595 Protein-tyrosine phosphatase, catalytic
Domain IPR004182 GRAM domain
Domain IPR010569 Myotubularin-like phosphatase domain
Family IPR030564 Myotubularin family
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR029021 Protein-tyrosine phosphatase-like
Domain Details Per Protein
Protein Length GRAM domain Myotubularin family Myotubularin-like phosphatase domain PH-like domain superfamily Protein-tyrosine phosphatase, active site Protein-tyrosine phosphatase, catalytic Protein-tyrosine phosphatase-like Tyrosine specific protein phosphatases domain
UniProtKB:B2GSD2 620
UniProtKB:Q9YHX2 393
UniProtKB:A0JMK5 620
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations