PAX9

Chr 14q13.3

paired box 9

MANE:: ENST00000361487.7

OMIM: 167416 ↗NCBI: 5083 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAX9 · P55771

v62025-08-01

Predicted Aligned Error matrix for PAX9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.4/ 100

Low

341 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)3%
Low(50–70)14%
Very low(< 50)49%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Oligodontia
0.61
Hypodontia
0.56
tooth agenesis
0.55
breast carcinoma
0.46
hereditary disease
0.41
prostate carcinoma
0.40
neurodegenerative disease
0.39
osteoarthritis, knee
0.39
Selective tooth agenesis
0.37
osteoarthritis
0.36

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

Protein function (UniProt)

Paired box protein Pax-9

Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs