Name: Anti-NR2E3 Antibody (CAB6234)
Brand: Signal Transduction Antibodies 3
SKU: CAB6234
Availability: OutOfStock

Antibody Name:	Anti-NR2E3 Antibody
Antibody SKU:	CAB6234
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 121-410 of human NR2E3 (NP_055064.1).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	293T, Raji, Mouse heart

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 121-410 of human NR2E3 (NP_055064.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	ERQP RSTA QVHL DSME SNTE SRPE SLVA PPAP AGRS PRGP TPMS AARA LGHH FMAS LITA ETCA KLEP EDAD ENID VTSN DPEF PSSP YSSS SPCG LDSI HETS ARLL FMAV KWAK NLPV FSSL PFRD QVIL LEEA WSEL FLLG AIQW SLPL DSCP LLAP PEAS AAGG AQGR LTLA SMET RVLQ ETIS RFRA LAVD PTEF ACMK ALVL FKPE TRGL KDPE HVEA LQDQ SQVM LSQH SKAH HPSQ PVRF GKLL LLLP SLRF ITAE RIEL LFFR KTIG NTPM EKLL CDMF KN
Gene ID:	10002
Uniprot:	Q9Y5X4
Cellular Location:	Nucleus
Calculated MW:	39kDa/44kDa
Observed MW:	45kDa

Synonyms:

NR2E3, ESCS, PNR, RNR, RP37, rd7

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	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; positive regulation of transcription from RNA polymerase II promoter; gene expression; steroid hormone mediated signaling Disease: Retinitis Pigmentosa 37; Enhanced S-cone Syndrome
NCBI Summary:	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 Code:	Q9Y5X4
NCBI GenInfo Identifier:	8928275
NCBI Gene ID:	10002
NCBI Accession:	Q9Y5X4.1
UniProt Secondary Accession:	Q9Y5X4,Q9UHM4, B6ZGU0,
UniProt Related Accession:	Q9Y5X4
Molecular Weight:	410
NCBI Full Name:	Photoreceptor-specific nuclear receptor
NCBI 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
UniProt Synonym Protein Names:	Nuclear receptor subfamily 2 group E member 3; Retina-specific nuclear receptor
Protein Family:	Photoreceptor-specific nuclear receptor
UniProt Gene Name:	NR2E3
UniProt Entry Name:	NR2E3_HUMAN

Western blot analysis of extracts of various cell lines, using NR2E3 antibody (CAB6234) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 30s.

Antibodies

NR2E3 Antibody (PACO10922)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)