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Mouse Anti-NR2E3 Recombinant Antibody (10C4) (CBMAB-N3404-WJ)

This product is a Mouse antibody that recognizes NR2E3. The antibody 10C4 can be used for immunoassay techniques such as: WB .
See all NR2E3 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
10C4
Antibody Isotype
IgG1
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
Buffer
PBS, pH 7.3, 1% BSA, 50% glycerol
Preservative
0.02% sodium azide
Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Nuclear Receptor Subfamily 2 Group E Member 3
Introduction
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Entrez Gene ID
10002
UniProt ID
Q9Y5X4
Alternative Names
Nuclear Receptor Subfamily 2 Group E Member 3; Retina-Specific Nuclear Receptor; PNR; RNR; Nuclear Receptor Subfamily 2, Group E, Member 3; Photoreceptor-Specific Nuclear Receptor; ESCS; RP37; Rd7;
Function
Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.
Biological Process
Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Eye photoreceptor cell developmentIEA:Ensembl
Negative regulation of cell population proliferationIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
PhototransductionManual Assertion Based On ExperimentTAS:ProtInc
Positive regulation of gene expressionIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Retina development in camera-type eyeIEA:Ensembl
Signal transductionManual Assertion Based On ExperimentTAS:ProtInc
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc
Cellular Location
Nucleus
Involvement in disease
Enhanced S cone syndrome (ESCS):
Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
Retinitis pigmentosa 37 (RP37):
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
PTM
Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity).

Xiao, S., Yi, Z., Xiao, X., Li, S., Jia, X., Lian, P., ... & Zhang, Q. (2023). Clinical and genetic features of nr2e3-associated retinopathy: A report of eight families with a longitudinal study and literature review. Genes, 14(8), 1525.

Xie, S., Hu, Y., Jin, J., Fu, L., Zhang, C., Yang, Q., ... & Sheng, Z. (2023). Regulation of the stem‑like properties of estrogen receptor‑positive breast cancer cells through NR2E3/NR2C2 signaling. Experimental and Therapeutic Medicine, 26(4), 1-11.

Toms, M., Ward, N., & Moosajee, M. (2023). Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. Genes, 14(7), 1325.

Iannaccone, A., Brabbit, E., Lopez-Miro, C., Love, Z., Griffiths, V., Kedrov, M., & Haider, N. B. (2021). Interspecies correlations between human and mouse NR2E3-associated recessive disease. Journal of clinical medicine, 10(3), 475.

Li, S., Datta, S., Brabbit, E., Love, Z., Woytowicz, V., Flattery, K., ... & Haider, N. B. (2021). Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene Therapy, 28(5), 223-241.

Diakatou, M., Dubois, G., Erkilic, N., Sanjurjo-Soriano, C., Meunier, I., & Kalatzis, V. (2021). Allele-specific knockout by CRISPR/Cas to treat autosomal dominant retinitis pigmentosa caused by the G56R mutation in NR2E3. International Journal of Molecular Sciences, 22(5), 2607.

Al-Khuzaei, S., Broadgate, S., Halford, S., Jolly, J. K., Shanks, M., Clouston, P., & Downes, S. M. (2020). Novel pathogenic sequence variants in NR2E3 and clinical findings in three patients. Genes, 11(11), 1288.

Bohrer, L. R., Wiley, L. A., Burnight, E. R., Cooke, J. A., Giacalone, J. C., Anfinson, K. R., ... & Tucker, B. A. (2019). Correction of NR2E3 associated enhanced S-cone syndrome patient-specific iPSCs using CRISPR-Cas9. Genes, 10(4), 278.

Xie, S., Han, S., Qu, Z., Liu, F., Li, J., Yu, S., ... & Liu, M. (2019). Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1865(6), 1273-1283.

Naessens, S., Ruysschaert, L., Lefever, S., Coppieters, F., & De Baere, E. (2019). Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa. Genes, 10(5), 363.

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

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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