Mouse Anti-MTMR2 Recombinant Antibody (4G6) (CBMAB-A5668-LY)

Name: Mouse Anti-MTMR2 Recombinant Antibody (4G6)
SKU: CBMAB-A5668-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

4G6

Application

WB, ELISA

Immunogen

MTMR2 (NP_057240, 5 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Specificity

Human, Rat

Antibody Isotype

IgG2a, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

myotubularin related protein 2

Introduction

This gene is a member of the myotubularin family. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq]

Entrez Gene ID

Human	8898
Rat	315422

UniProt ID

Human	Q13614
Rat	D3ZA31

Alternative Names

CMT4B; CMT4B1; KIAA1073

Function

Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594).

Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity).

Stabilizes SBF2/MTMR13 at the membranes (By similarity).

Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).

Biological Process

Dendritic spine maintenance Source: BHF-UCL
Inositol phosphate dephosphorylation Source: Ensembl
Myelin assembly Source: Ensembl
Negative regulation of endocytosis Source: BHF-UCL
Negative regulation of excitatory postsynaptic potential Source: BHF-UCL
Negative regulation of myelination Source: Ensembl
Negative regulation of receptor catabolic process Source: BHF-UCL
Negative regulation of receptor internalization Source: BHF-UCL
Neuron development Source: Ensembl
Phosphatidylinositol biosynthetic process Source: Reactome
Phosphatidylinositol dephosphorylation Source: UniProtKB
Positive regulation of early endosome to late endosome transport Source: BHF-UCL
Protein dephosphorylation Source: UniProtKB
Regulation of phosphatidylinositol dephosphorylation Source: UniProtKB

Cellular Location

Cytoplasm
Endosome
Early endosome membrane
Endosome membrane
Other locations
perinuclear region
axon
Note: Partly associated with membranes (PubMed:12668758, PubMed:15998640, PubMed:21372139). Localizes to vacuoles in hypo-osmotic conditions (By similarity).

Involvement in disease

Charcot-Marie-Tooth disease 4B1 (CMT4B1):
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

PTM

Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.

Yao, Y., Lai, J., Yang, Y., Wang, G., & Lv, J. (2023). An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma. Scientific Reports, 13(1), 18701.

Cook, S., Hooser, B. N., Williams, D. C., Kortz, G., Aleman, M., Minor, K., ... & Ekenstedt, K. J. (2023). Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in Golden Retrievers with congenital hypomyelinating polyneuropathy. Neuromuscular Disorders.

Halperin, D., Sapir, A., Wormser, O., Drabkin, M., Yogev, Y., Dolgin, V., ... & Birk, O. S. (2020). Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. neurogenetics, 21, 301-304.

Wang, H., Kaçar Bayram, A., Sprute, R., Ozdemir, O., Cooper, E., Pergande, M., ... & Cirak, S. (2019). Genotype-phenotype correlations in Charcot-Marie-Tooth disease due to MTMR2 mutations and implications in membrane trafficking. Frontiers in Neuroscience, 13, 974.

Jiang, L., Liu, J. Y., Shi, Y., Tang, B., He, T., Liu, J. J., ... & Yu, P. W. (2019). MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling. Journal of Experimental & Clinical Cancer Research, 38, 1-16.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

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