NKX2-2

Chr 20p11.22

NK2 homeobox 2

Aliases:: NKX2.2
MANE:: ENST00000377142.5

OMIM: 604612 ↗NCBI: 4821 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NKX2-2 · O95096

v62025-08-01

Predicted Aligned Error matrix for NKX2-2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.1/ 100

Low

273 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)6%
Low(50–70)44%
Very low(< 50)30%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Multi-organ autoimmune diabetes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neonatal diabetes mellitus
0.37
skin disorder
0.29
Abnormality of refraction
0.28
Ewing sarcoma
0.22
type 2 diabetes mellitus
0.22
hereditary disease
0.17
colorectal carcinoma
0.09
osteosarcoma
0.07
neoplasm
0.06
Hodgkins lymphoma
0.06

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

Protein function (UniProt)

Homeobox protein Nkx-2.2

Transcriptional activator involved in the development of insulin-producing beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity)