AGR2

Function

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).

Involvement in disease

Respiratory infections, recurrent, and failure to thrive with or without diarrhea

RIFTD

An autosomal recessive disorder characterized by neonatal onset of recurrent pulmonary infections, coughing, wheezy episodes, interstitial lung disease, and bronchiectasis. Episodes of vomiting and chronic diarrhea result in failure to thrive. Results of sweat chloride and pancreatic elastase tests are normal.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the AGR family.

Tissue Specificity

Expressed strongly in trachea, lung, stomach, colon, prostate and small intestine. Expressed weakly in pituitary gland, salivary gland, mammary gland, bladder, appendix, ovary, fetal lung, uterus, pancreas, kidney, fetal kidney, testis, placenta, thyroid gland and in estrogen receptor (ER)-positive breast cancer cell lines.

Cellular localization

• Secreted
• Endoplasmic reticulum

Alternative names

AG2, UNQ515/PRO1030, AGR2, Anterior gradient protein 2 homolog, AG-2, hAG-2, HPC8, Secreted cement gland protein XAG-2 homolog

Database links

swissprot:O95994 omim:609482 omim:606358 swissprot:Q8TD06 entrezGene:10551 entrezGene:155465