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Mouse Anti-ATXN2 Recombinant Antibody (EG317) (CBMAB-EN349-LY)


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Published Data
Mouse Anti-ATXN2 Recombinant Antibody (EG317) in IF
Mouse Anti-ATXN2 Recombinant Antibody (EG317) in IF
Representative confocal scanning microscopy images of NSC-34 cells (n = 3) transfected with 20 g of pCI-neo plasmid expressing total TDP-43 (endogenous and exogenous) and analyzed after different lengths of time after transfection. The green and red fluorescence indicate TDP-43 and ataxin-2, respectively. Yellow and white arrows indicate TDP-43 inclusions with or without colocalization with ataxin-2, respectively. ...View More
Cascella, R., Bigi, A., Riffert, D. G., Gagliani, M. C., Ermini, E., Moretti, M., ... & Chiti, F. (2022). A quantitative biology approach correlates neuronal toxicity with the largest inclusions of TDP-43. Science Advances, 8(30), eabm6376.

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
EG317
Antibody Isotype
IgM, κ
Application
WB, IP, IF, ELISA

Basic Information

Immunogen
Amino acids 1086-1113 within an internal region of Ataxin-2 of human origin.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgM, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
ELISA1:100-1:1,000
IF(ICC)1:50-1:500

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

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 mg/ml
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Ataxin 2
Introduction
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Entrez Gene ID
Human6311
Mouse20239
UniProt ID
HumanQ99700
MouseO70305
Alternative Names
Ataxin 2; Trinucleotide Repeat-Containing Gene 13 Protein; Spinocerebellar Ataxia Type 2 Protein; TNRC13; SCA2; ATX2; Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2); Trinucleotide Repeat Containing 13; Ataxin-2;
Function
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
Biological Process
Negative regulation of receptor internalization Source: UniProtKB
P-body assembly Source: UniProtKB
Regulation of cytoplasmic mRNA processing body assembly Source: GO_Central
Regulation of translation Source: UniProtKB
RNA metabolic process Source: UniProtKB
RNA transport Source: UniProtKB
Stress granule assembly Source: UniProtKB
Cellular Location
Cytoplasm
Involvement in disease
Spinocerebellar ataxia 2 (SCA2): The disease is caused by variants affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs.
Amyotrophic lateral sclerosis 13 (ALS13): Disease susceptibility is associated with variants affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia.
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
More Infomation

Laffita-Mesa, J. M., Paucar, M., & Svenningsson, P. (2021). Ataxin-2 gene: a powerful modulator of neurological disorders. Current Opinion in Neurology, 34(4), 578.

Sundberg, C., Lakk, M., Paul, S., Figueroa, K. P., Scoles, D. R., Pulst, S. M., & Križaj, D. (2021). The RNA‐binding protein and stress granule component ATAXIN‐2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. Journal of Comparative Neurology.

McGurk, L., Rifai, O. M., Shcherbakova, O., Perlegos, A. E., Byrns, C. N., Carranza, F. R., ... & Bonini, N. M. (2021). Toxicity of pathogenic ataxin-2 in Drosophila shows dependence on a pure CAG repeat sequence. Human Molecular Genetics.

Watanabe, R., Higashi, S., Nonaka, T., Kawakami, I., Oshima, K., Niizato, K., ... & Arai, T. (2020). Intracellular dynamics of Ataxin-2 in the human brains with normal and frontotemporal lobar degeneration with TDP-43 inclusions. Acta neuropathologica communications, 8(1), 1-19.

Arsović, A., Halbach, M. V., Canet-Pons, J., Esen-Sehir, D., Döring, C., Freudenberg, F., ... & Auburger, G. (2020). Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule—Purkinje Neuron Synaptic Strength. International journal of molecular sciences, 21(18), 6673.

Sen, N. E., Arsovic, A., Meierhofer, D., Brodesser, S., Oberschmidt, C., Canet-Pons, J., ... & Auburger, G. (2019). In human and mouse Spino-cerebellar tissue, Ataxin-2 expansion affects Ceramide-Sphingomyelin metabolism. International journal of molecular sciences, 20(23), 5854.

Ostrowski, L. A., Hall, A. C., Szafranski, K. J., Oshidari, R., Abraham, K. J., Chan, J. N., ... & Mekhail, K. (2018). Conserved Pbp1/Ataxin-2 regulates retrotransposon activity and connects polyglutamine expansion-driven protein aggregation to lifespan-controlling rDNA repeats. Communications biology, 1(1), 1-17.

Lee, J., Kim, M., Itoh, T. Q., & Lim, C. (2018). Ataxin‐2: A versatile posttranscriptional regulator and its implication in neural function. Wiley Interdisciplinary Reviews: RNA, 9(6), e1488.

Auburger, G., Sen, N. E., Meierhofer, D., Başak, A. N., & Gitler, A. D. (2017). Efficient prevention of neurodegenerative diseases by depletion of starvation response factor Ataxin-2. Trends in neurosciences, 40(8), 507-516.

Pfeffer, M., Gispert, S., Auburger, G., Wicht, H., & Korf, H. W. (2017). Impact of Ataxin-2 knock out on circadian locomotor behavior and PER immunoreaction in the SCN of mice. Chronobiology international, 34(1), 129-137.

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

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