KBTBD2

Chr 7p14.3

kelch repeat and BTB domain containing 2

Aliases:: DKFZP566C134
MANE:: ENST00000304056.9

OMIM: 619393 ↗NCBI: 25948 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KBTBD2 · Q8IY47

v62025-08-01

Predicted Aligned Error matrix for KBTBD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.3/ 100

Confident

623 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)21%
Low(50–70)8%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.42
neurodevelopmental disorder
0.25
eye disorder
0.17
major depressive disorder
0.10
non-autoimmune hemolytic anemia
0.10
insomnia
0.09
MODY
0.08
glaucoma
0.08
hyperinsulinism due to INSR deficiency
0.07
transient neonatal diabetes mellitus
0.07

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

Protein function (UniProt)

Kelch repeat and BTB domain-containing protein 2

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of the insulin signaling pathway, modulating insulin sensitivity by limiting PIK3R1/p85alpha abundance in adipocytes. Targets PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase (PI3K), for 'Lys-48'-linked polyubiquitination and proteasome-mediated degradation