Kin of IRRE like 3 (Drosophila); Kin of IRRE like 3; Kin of irregular chiasm like protein 3 ; KIRRE; KIRREL 3; KIRREL-3; MRD4; NEPH2; Nephrin like 2; PRO19814; PRO4502; yUNQ5923; KIRR3_HUMAN.
Cat:
SL11864R
Species Reactivity:
Mouse,(predicted: Human,Rat,Chicken,)
Immunogen:
KLH conjugated synthetic peptide derived from human KIRREL3:351-450/778<Extracellular>
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500Flow-Cyt=1μg/TestICC=1:100-500IF=1:100-500(Paraffin sections need to do antigen repair)not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Product Overview:
Blank control(blue):Mouse nephrocytes (fixed with 2% paraformaldehyde (10 min)). Primary Antibody:Rabbit Anti- KIRREL3 antibody(SL11864R), Dilution: 1μg in 100 μL 1X PBS containing 0.5% BSA; Isotype Control Antibody: Rabbit IgG(orange) ,used under the same conditions ); Secondary Antibody: Goat anti-rabbit IgG-PE(white blue), Dilution: 1:200 in 1 X PBS containing 0.5% BSA.
NEPH2 is a 778 amino acid single-pass type I membrane protein that belongs to the nephrin-like protein family and immunoglobulin superfamily. Expressed in both fetal and adult brain, as well as podocytes of kidney glomeruli, NEPH2 contains five Ig-like C2-type (immunoglobulin-like) domains and is thought to plaly a role in the hematopoetic supportive capacity of stroma cells. NEPH2 undergoes alternative splicing to produce two isoforms and contains a SLCterminal cytoplasmic domain which it uses to interact with Podocin, a podocyte protein involved in ultrafiltration. Defects in the gene encoding NEPH2 are associated with mental retardation autosomal dominant type 4 (MRD4).
Function: NEPH2 is a member of the nephrin like protein family, which includes NEPH1 (KIRREL; MIM 607428) and NEPH3 (KIRREL2; MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size and charge selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).
Subunit: Interacts with the SLCterminus of NPHS2/podocin. Interacts with CASK.
Subcellular Location: Cell membrane; Single-pass type I membrane protein
Tissue Specificity: Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.
DISEASE: Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24). Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
Similarity: Belongs to the immunoglobulin superfamily. Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
SWISS: Q8IZU9
Gene ID: 84623
Database links:
Entrez Gene: 84623 Human
Entrez Gene: 67703 Mouse
Entrez Gene: 315546 Rat
Omim: 607761 Human
SwissProt: Q8IZU9 Human
SwissProt: Q8BR86 Mouse
Unigene: 376015 Human
Unigene: 220710 Mouse
Unigene: 7602 Rat
Picture
Blank control(blue):Mouse nephrocytes (fixed with 2% paraformaldehyde (10 min)). Primary Antibody:Rabbit Anti- KIRREL3 antibody(SL11864R), Dilution: 1μg in 100 μL 1X PBS containing 0.5% BSA; Isotype Control Antibody: Rabbit IgG(orange) ,used under the same conditions ); Secondary Antibody: Goat anti-rabbit IgG-PE(white blue), Dilution: 1:200 in 1 X PBS containing 0.5% BSA.