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

Name: Mouse Anti-NR2E3 Recombinant Antibody (10C4)
SKU: CBMAB-N3404-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

10C4

Application

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.

More Infomation

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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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

Antibody Pairs

NR2E3 Matched Antibody Pair (817) (CAT#: APMAB-817LY)

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Isotype control

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

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