KANK2

Chr 19p13.2

KN motif and ankyrin repeat domains 2

Aliases:: KIAA1518, SIP
MANE:: ENST00000586659.6

OMIM: 614610 ↗NCBI: 25959 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

KANK2 · Q63ZY3

v62025-08-01

Predicted Aligned Error matrix for KANK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.1/ 100

Low

851 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nephrotic syndrome 16
0.62
wooly hair-palmoplantar keratoderma syndrome
0.56
familial idiopathic steroid-resistant nephrotic syndrome
0.37
hypertensive disorder
0.34
metabolic syndrome
0.31
glaucoma
0.31
open-angle glaucoma
0.30
cardiovascular disorder
0.27
systemic lupus erythematosus
0.24
aortic stenosis
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

KN motif and ankyrin repeat domain-containing protein 2

Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity)