kin of IRRE-like protein 3; kin of irregular chiasm-like protein 3; nephrin-like protein 2 (KIRREL3, NEPH2, KIAA1867)

Function

• hematopoietic support of stroma cells (putative)
• interacts with the C-terminus of NPHS2/podocin

Structure

• belongs to the immunoglobulin superfamily
• contains 5 Ig-like C2-type domains

Compartment

• membrane: single-pass type 1 membrane protein

Alternative splicing

named isoforms=2

Expression

• expressed in fetal & adult brain
• expressed in podocytes of kidney glomeruli

Pathology

• chromosomal translocation t(11;16)(q24.2;q24) involving KIRREL3 & CDH15 is found in a patient with severe mental retardation & dysmorphic facial features
• defects in KIRREL3 associated with
  • mental retardation, autosomal dominant 4 (MRD4)
• defects in NEPH2 associated with
  • familial focal segmental glomerulosclerosis
  • Finnish-type congenital nephropathy

More general terms

• membrane protein
• glycoprotein

Additional terms

• nephrin; renal glomerulus-specific cell adhesion receptor (NPHS1 NPHN)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84623
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84623
• OMIM: https://mirror.omim.org/entry/607761
• OMIM: https://mirror.omim.org/entry/612581
• UniProt: http://www.uniprot.org/uniprot/Q8IZU9.html