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 have 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 localize to 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