KIRREL2
Kin of IRRE like 2 (Drosophila)
Gene Information Card
| Symbol | KIRREL2 |
|---|---|
| Full Name | Kin of IRRE like 2 (Drosophila) |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 84641 ncbi.nlm.nih.gov/gene/84641 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q6UWL1 |
| OMIM ID | 607226 |
| HGNC ID | 23239 |
| Aliases | NEPH3, FILTRIN, MGC12962 |
Description
KIRREL2 (kin of IRRE like 2) encodes a member of the nephrin-like protein family, characterized by five extracellular immunoglobulin-like domains and a cytoplasmic tail with conserved tyrosine residues. The protein is a component of the slit diaphragm of kidney glomerular podocytes, where it interacts with nephrin and other slit diaphragm proteins to maintain the glomerular filtration barrier. KIRREL2 is also expressed in the brain and pancreas, suggesting roles in cell adhesion and signaling beyond the kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrotic syndrome, type 2 (NPHS2) | Mutations in KIRREL2 disrupt slit diaphragm integrity, leading to proteinuria and progressive kidney disease. | ClinVar, OMIM |
| Focal segmental glomerulosclerosis (FSGS) | Loss of KIRREL2 function impairs podocyte adhesion and filtration barrier, contributing to FSGS. | ClinVar, OMIM |
| Steroid-resistant nephrotic syndrome | Biallelic KIRREL2 variants cause early-onset steroid-resistant nephrotic syndrome. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Testis | 4.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in kidney-derived cell line |
| Podocyte (immortalized) | 18.7 | Endogenous expression in podocyte cell lines |
| SH-SY5Y | 5.4 | Moderate expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.01% | Premature stop, loss of protein function |
| c.1465G>A (p.Gly489Arg) | Missense | <0.01% | Disrupts Ig domain folding, reduced cell surface expression |
| c.1843_1844del (p.Leu615Valfs*2) | Frameshift | <0.01% | Truncated protein, loss of cytoplasmic domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing slit diaphragm assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may interfere with nephrin binding, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • protein homodimerization activity |
| • protein heterodimerization activity | • glomerular filtration |
| • cell-cell junction | • plasma membrane |
| • slit diaphragm |
Pathways
• Slit diaphragm assembly
• Nephrin signaling
• Cell adhesion molecules (CAMs)
Protein Summary
KIRREL2 (NEPH3) is a transmembrane protein of the immunoglobulin superfamily, essential for the structural integrity of the glomerular slit diaphragm. It forms homodimers and heterodimers with nephrin and other NEPH family members, linking the podocyte cytoskeleton to the filtration barrier. The protein is also implicated in pancreatic beta-cell function and neuronal adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIRREL2 Knockout HEK293 Cell Line | EDJ-KQ9962 | Human | 84063 | Details Get a Quote |
| KIRREL2 Knockout HeLa Cell Line | EDJ-KQ57524 | Human | 84063 | Details Get a Quote |
| KIRREL2 Knockout A-549 Cell Line | EDJ-KQ66022 | Human | 84063 | Details Get a Quote |
| KIRREL2 Knockout HCT 116 Cell Line | EDJ-KQ74445 | Human | 84063 | Details Get a Quote |
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