PAX4

Chr 7q32.1

paired box 4

Aliases:: MODY9
MANE:: ENST00000639438.3

OMIM: 167413 ↗NCBI: 5078 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAX4 · O43316

v62025-08-01

Predicted Aligned Error matrix for PAX4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.4/ 100

Low

350 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)11%
Low(50–70)7%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

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

Disease associations (Open Targets)

type 2 diabetes mellitus
0.68
diabetic ketoacidosis
0.56
MODY
0.51
maturity-onset diabetes of the young type 9
0.41
diabetes mellitus
0.38
liver disorder
0.31
diabetic eye disease
0.30
diabetic retinopathy
0.30
uterine corpus leiomyoma
0.25
cleft palate
0.24

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

Protein function (UniProt)

Paired box protein Pax-4

DNA-binding transcription factor that plays a central role in the differentiation and development of type B pancreatic cells, which are located within the pancreatic islets of Langerhans responsible for the production and release of insulin (By similarity). Mainly acts as a transcription repressor that binds to a common element in the glucagon, insulin and somatostatin promoters and inhibits their expression (By similarity). Prevents differentiation of type A pancreatic cells, probably by repressing expression of ARX (By similarity). Competes with another transcription factor, PAX6, for this same promoter binding site (By similarity). Also plays a key role in intestinal enteroendocrine cell differentiation by (1) directly promoting differentiation of enterochromaffin cells and (2) preventing differentiation of other intestinal enteroendocrine cell types (PubMed:37883554). Prevents differentiation of other intestinal enteroendocrine cell types by repressing the expression of ARX, the master transcription factor for intestinal type-L, -N, -D, -I and -G enteroendocrine cell differentiation (PubMed:37883554)