Table 1.

The examples of protein isoforms/splice variants known to be relevant to various biological functions and diseases (based on literature).

Protein isoforms/splice variants	Function/disease	Ref.
Interferon receptor (IFNAR) isoforms	multiple sclerosis	[23]
Enigma homolog splice variants (ENH 1-4)	ENH1 promotes the expression of cardiac muscle hypertrophy markers, high levels of ENH4 prevent these changes	[24]
B-cell activating factor (BAFF) isoforms	autoimmune diseases	[25]
T-cell factor 7-like 2 (TCF7L2) splice variants	related to the development of type 2 diabetes	[26]
Forkhead family transcription factor (FOXP1) embryonic stem cell-specific isoform (FOXP1-ES)	embryonic stem cell pluripotency and reprogramming regulation	[27]
Vascular endothelial growth factor (VEGF) splice variants	anti-angiogenic properties in cancer therapy	[98-99]
Insulin-like growth factor-1 (IGF-I) splice variants (IGF-IEa, IGF-IEb and IGF-IEc)	high resistance exercise	[100]
Interleukin IL37 and its splice variants	anti-inflammatory cytokines	[101]
Fibronectin splice variants	participate in lymphatic valve formation; prevent tissue fibrosis; mediate fibroblast to myofibroblast differentiation; pro-thrombotic role	[102-103]
Thrombopoietin splice variants	pro-apoptotic causing death of newly generated neurons; risk of myocardial infarction	[105-106]
Neuregulin splice variants	breast cancer; prostate cancer	[22,107]
Osteopontin splice variants (OPNa, OPNb and OPNc)	OPNa is a major isoform in both healthy and non-small cell lung cancer (NSCLC) and it is elevated in NSCLC	[108]
p53 family (TP53, TP63 and TP73) splice variants	high expression levels contribute to tumorigenesis; affect tumor response to therapy	[109]