PAX8

Chr 2q14.1

paired box 8

Aliases:: PAX-8
MANE:: ENST00000429538.8

OMIM: 167415 ↗NCBI: 7849 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAX8 · Q06710

v62025-08-01

Predicted Aligned Error matrix for PAX8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.7/ 100

Low

450 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)6%
Low(50–70)11%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hypothyroidism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypothyroidism, congenital, nongoitrous, 2
0.72
congenital hypothyroidism
0.60
hypothyroidism
0.57
neurodegenerative disease
0.51
testicular hydrocele
0.49
thyroid hypoplasia
0.47
thyroid ectopia
0.47
cervix erosion
0.47
testicular disorder
0.42
spermatocele
0.40

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

Protein function (UniProt)

Paired box protein Pax-8

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells