Rabbit NR2E3 / PNR Polyclonal Antibody | anti-NR2E3 antibody

Rabbit Polyclonal to Human NR2E3 / PNR

Cat. Num. AAA243522

• Gene Names: NR2E3; PNR; RNR; rd7; ESCS; RP37
• Reactivity: Bat, Gibbon, Bovine, Chimpanzee, Gorilla, Hamster, Horse, Human, Mouse, Pig; Predicted Reactivity: Monkey (at least 90% immunogen sequence identity)
• Applications: Immunohistochemistry
• Purity: Immunoaffinity Purified
• Synonyms: NR2E3 / PNR; Polyclonal Antibody; Rabbit Polyclonal to Human NR2E3 / PNR; Anti-NR2E3 / PNR Antibody (Ligand-binding Domain) IHC-plus; NR2E3; ESCS; PNR; RNR; Rd7; RP37; Human NR2E3; anti-NR2E3 antibody

• Host: Rabbit
• Reactivity: Bat, Gibbon, Bovine, Chimpanzee, Gorilla, Hamster, Horse, Human, Mouse, Pig; Predicted Reactivity: Monkey (at least 90% immunogen sequence identity)
• Clonality: Polyclonal
• Specificity: Human NR2E3. BLAST analysis of the peptide immunogen showed no homology with other human proteins.
• Purity/Purification: Immunoaffinity Purified
• Form/Format: PBS, 0.1% sodium azide.
• Concentration: 1 mg/ml (varies by lot)
• Sequence Length: 410

• Applicable Applications for anti-NR2E3 antibody: Immunohistochemistry (IHC - Paraffin)
• Application Notes: IHC-P (30 ug/ml)
• Target Species: Human
• Immunogen Description: Synthetic 19 amino acid peptide from ligand-binding domain of human NR2E3. Percent identity with other species by BLAST analysis: Human, Chimpanzee, Gorilla, Gibbon, Monkey, Mouse, Hamster, Elephant, Panda, Bovine, Bat, Horse, Pig (100%); Marmoset (95%).
• Immunogen Type: Synthetic peptide
• Immunogen: NR2E3 / PNR antibody was raised against synthetic 19 amino acid peptide from ligand-binding domain of human NR2E3. Percent identity with other species by BLAST analysis: Human, Chimpanzee, Gorilla, Gibbon, Monkey, Mouse, Hamster, Elephant, Panda, Bovine, Bat, Horse, Pig (100%); Marmoset (95%).
• Antigen Modification: Ligand-binding Domain
• Preparation and Storage: Long term: -70 degree C; Short term: +4 degree C

Immunohistochemistry (IHC)

(Anti-NR2E3 antibody IHC of human retina. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval.)

Related Product Information for anti-NR2E3 antibody

Photoreceptor-specific nuclear receptor (PNR), a NR2 Hepatocyte NF4-Like Receptor, has been suggested to affect cone cell proliferation in eye development. It has been shown to have a role in determining photoreceptor phenotype during human retinogenesis. In RD7 mice, a deletion in PNR results in hereditary retinal dysplasia and degeneration. A homozygous missense mutation in PNR has been linked to retinitis pigmentosa in Crypto-Jews of Belmonte.

Product Categories/Family for anti-NR2E3 antibody

Family: NHR; Subfamily: NR2 Hepatocyte NF4-like

NCBI and Uniprot Product Information

• NCBI GI #: 7657395
• NCBI GeneID: 10002
• NCBI Accession #: NP_055064.1
• NCBI GenBank Nucleotide #: NM_014249.3
• UniProt Accession #: Q9Y5X4; Q9UHM4; B6ZGU0
• Molecular Weight: 39,638 Da
• NCBI Official Full Name: photoreceptor-specific nuclear receptor isoform b
• NCBI Official Synonym Full Names: nuclear receptor subfamily 2, group E, member 3
• NCBI Official Symbol: NR2E3
• NCBI Official Synonym Symbols: PNR; RNR; rd7; ESCS; RP37
• NCBI Protein Information: photoreceptor-specific nuclear receptor; retina-specific nuclear receptor
• UniProt Protein Name: Photoreceptor-specific nuclear receptor
• Protein Family: Photoreceptor-specific nuclear receptor
• UniProt Gene Name: NR2E3
• UniProt Synonym Gene Names: PNR; RNR
• UniProt Entry Name: NR2E3_HUMAN

NCBI Description

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]

Uniprot Description

NR2E3: 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. Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS). ESCS is an 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. Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37). RP leads to degeneration of retinal photoreceptor cells. 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. RP37 inheritance is autosomal dominant. Belongs to the nuclear hormone receptor family. NR2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor

Chromosomal Location of Human Ortholog: 15q23

Cellular Component: nucleoplasm; transcription factor complex; nucleus

Molecular Function: protein binding; ligand-dependent nuclear receptor activity; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity

Biological Process: transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; intracellular receptor-mediated signaling pathway; positive regulation of rhodopsin gene expression; negative regulation of transcription from RNA polymerase II promoter; signal transduction; negative regulation of cell proliferation; eye photoreceptor cell development; visual perception; retina development in camera-type eye; phototransduction; steroid hormone mediated signaling; gene expression; positive regulation of transcription from RNA polymerase II promoter

Disease: Retinitis Pigmentosa 37; Enhanced S-cone Syndrome