NKX3-2

Chr 4p15.33

NK3 homeobox 2

Aliases:: NKX3B, NKX3.2
MANE:: ENST00000382438.6

OMIM: 602183 ↗NCBI: 579 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NKX3-2 · P78367

v62025-08-01

Predicted Aligned Error matrix for NKX3-2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.2/ 100

Low

333 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)4%
Low(50–70)33%
Very low(< 50)46%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

spondylo-megaepiphyseal-metaphyseal dysplasia
0.71
connective tissue disorder
0.32
hereditary disease
0.19
Familial Scheuermann disease
0.09
Scheuermann disease
0.09
autosomal recessive spondylocostal dysostosis
0.08
spondylolisthesis
0.08
Micromelic dwarfism, Fryns type
0.08
spondyloepiphyseal dysplasia tarda, autosomal dominant
0.08
osteomesopyknosis
0.08

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

Protein function (UniProt)

Homeobox protein Nkx-3.2

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity)