KANK2 Chromosome 19
KN motif and ankyrin repeat domains 2
Upload your DNA to see your personal genotypes for variants in KANK2.
What This Gene Does
This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
KN motif and ankyrin repeat domain containing
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000197256
Associated Conditions (3)
Nephrotic syndrome 16
Wooly hair-palmoplantar keratoderma syndrome
KANK2-related disorder
Key Variants
RS143268076
Conflicting classifications of pathogenicity
Health Risk
RS144821191
Conflicting classifications of pathogenicity
Nephrotic syndrome 16, Wooly hair-palmoplantar keratoderma syndrome, KANK2-related disorder
Health Risk
RS145571817
Conflicting classifications of pathogenicity
Health Risk
RS199665873
Conflicting classifications of pathogenicity
Health Risk
RS369636439
Conflicting classifications of pathogenicity
Health Risk
RS755672192
Conflicting classifications of pathogenicity
Health Risk
RS1555816634
Pathogenic
Nephrotic syndrome 16, Nephrotic syndrome 16
Health Risk
RS606231303
Pathogenic
Wooly hair-palmoplantar keratoderma syndrome, Wooly hair-palmoplantar keratoderma syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143268076 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144821191 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 16, Wooly hair-palmoplantar keratoderma syndrome, KANK2-related disorder |
| RS145571817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199665873 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369636439 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755672192 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555816634 | Health Risk | Pathogenic | Nephrotic syndrome 16, Nephrotic syndrome 16 |
| RS606231303 | Health Risk | Pathogenic | Wooly hair-palmoplantar keratoderma syndrome, Wooly hair-palmoplantar keratoderma syndrome |