SERPINI2
Description
The SERPINI2 (serpin family I member 2) is a protein-coding gene located on chromosome 3.
Serpin I2 is a protein encoded by the SERPINI2 gene in humans. It belongs to the serine protease inhibitor (serpin) superfamily, which regulates various physiological processes like coagulation, fibrinolysis, development, malignancy, and inflammation. Serpin I2 might be involved in a growth-control pathway, potentially suppressing growth, and could be implicated in pancreatic carcinogenesis when its function is impaired. This protein is part of the plasminogen activator inhibitor-1 family, a subset of serpins that act as tissue-specific tPA inhibitors. Two distinct protein isoforms are produced from this gene through alternative splicing.
SERPINI2 is also known as MEPI, PANCPIN, PI14, TSA2004.
Associated Diseases
- immunodeficiency 76
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- immunodeficiency 19
- severe combined immunodeficiency due to IKK2 deficiency
- common variable immunodeficiency
- short-limb skeletal dysplasia with severe combined immunodeficiency
- combined immunodeficiency due to ZAP70 deficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- severe combined immunodeficiency due to LAT deficiency
- immunodeficiency 72 with autoinflammation
- immunodeficiency 80 with or without congenital cardiomyopathy
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 75
- severe combined immunodeficiency due to DCLRE1C deficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- immunodeficiency 105
- Omenn syndrome
