EBAG9
Description
The EBAG9 (estrogen receptor binding site associated antigen 9) is a protein-coding gene located on chromosome 8.
The EBAG9 gene encodes a protein that is a tumor-associated antigen found in many types of cancer. It was identified as a gene that responds to estrogen, with estrogen receptor binding to a specific site in the gene to regulate its activity. There are two versions of the gene, differing only in the non-coding region, but both producing the same protein.
EBAG9 is also known as EB9, PDAF.
Associated Diseases
- cancer
- isolated agammaglobulinemia
- common variable immunodeficiency
- immunodeficiency 18
- severe combined immunodeficiency due to CARD11 deficiency
- reticular dysgenesis
- immunodeficiency, common variable, 4
- combined immunodeficiency with skin granulomas
- Wiskott-Aldrich syndrome
- agammaglobulinemia 7, autosomal recessive
- inborn error of immunity
- severe combined immunodeficiency due to CTPS1 deficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- hyper-IgM syndrome type 2
