FOXA2

Chr 20p11.21

forkhead box A2

MANE:: ENST00000419308.7

OMIM: 600288 ↗NCBI: 3170 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FOXA2 · Q9Y261

v62025-08-01

Predicted Aligned Error matrix for FOXA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.7/ 100

Low

457 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)5%
Low(50–70)27%
Very low(< 50)53%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hypothyroidism
0.49
nodular goiter
0.46
nontoxic goiter
0.45
endometrial cancer
0.44
type 2 diabetes mellitus
0.44
multinodular goiter
0.44
non-acquired combined pituitary hormone deficiency
0.44
toxic multinodular goitre
0.43
thyroid gland disorder
0.42
Combined pituitary hormone deficiencies, genetic forms
0.42

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

Protein function (UniProt)

Hepatocyte nuclear factor 3-beta

Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation