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-phosphate 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. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR029021	Protein-tyrosine phosphatase-like