FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: nephrotic syndrome, type 16
Open Close
General Information
Name
nephrotic syndrome, type 16
FlyBase ID
FBhh0000894
Disease Ontology Term
Parent Disease
OMIM
NEPHROTIC SYNDROME, TYPE 16; NPHS16
Overview

This report describes nephrotic syndrome, type 16 (NPHS16), a subtype of nephrotic syndrome; NPHS16 exhibits autosomal recessive inheritance. The human gene implicated in this disease is KANK2, which encodes one of four KANK (kidney ankyrin repeat-containing) genes in human; these genes regulate actin polymerization in multiple different cellular and developmental contexts. There is a single fly gene, Dmel\Kank, that is orthologous to the four human genes. Information about fly models for this and related diseases can be found in the report 'nephrotic syndrome, KANK-related' (FBhh0000667).

[updated Sep. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: nephrotic syndrome
Symptoms and phenotype

The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996, pubmed:8606597). [From MIM:256300, 2016.06.13]

(OMIM, 2013-)
Specific Disease Summary: nephrotic syndrome, type 16
OMIM report

[NEPHROTIC SYNDROME, TYPE 16; NPHS16](https://omim.org/entry/617783)

Human gene(s) implicated

[KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; KANK2](https://omim.org/entry/614610)

Symptoms and phenotype
Genetics

Nephrotic syndrome type 16 (NPHS16) is caused by homozygous mutation in the KANK2 gene.

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
NPHS16
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    KANK2; KN motif and ankyrin repeat domains 2
    D. melanogaster ortholog (based on DIOPT)
    Dmel\Kank
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 4 human to 1 Drosophila; the human genes are KANK1, KANK2, KANK3, KANK4.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)