AGR2

Chr 7p21.1

anterior gradient 2, protein disulphide isomerase family member

Aliases:: XAG-2, HAG-2, AG2, PDIA17
MANE:: ENST00000419304.7

OMIM: 606358 ↗NCBI: 10551 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AGR2 · O95994

v62025-08-01

Predicted Aligned Error matrix for AGR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.2/ 100

Confident

175 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)9%
Low(50–70)11%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

respiratory infections, recurrent, and failure to thrive with or without diarrhea
0.67
bronchiectasis with or without elevated sweat chloride 3
0.50
bronchiectasis with or without elevated sweat chloride 1
0.50
bronchiectasis with or without elevated sweat chloride 2
0.50
Chronic diarrhea
0.46
chronic diarrheal disease
0.46
alcohol drinking
0.30
Epiphora
0.28
cutaneous melanoma
0.12
neoplasm
0.12

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

Protein function (UniProt)

Anterior gradient protein 2 homolog

Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion (PubMed:23274113)