BECN2

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Description

The BECN2 (beclin 2) is a protein-coding gene located on chromosome 1.

BECN2 is involved in two distinct lysosomal degradation pathways: autophagy, where it acts as a regulator, and the turnover of G-protein coupled receptors (GPCRs). Specifically, BECN2 regulates the degradation of GPCRs in lysosomes through its interaction with GPRASP1/GASP1.

BECN2 is also known as BECN1L1, BECN1P1.

Associated Diseases

• obesity due to melanocortin 4 receptor deficiency
• type 2 diabetes mellitus
• hypoinsulinemic hypoglycemia and body hemihypertrophy
• transient neonatal diabetes mellitus
• severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
• short stature due to primary acid-labile subunit deficiency
• diabetes mellitus, permanent neonatal 4
• diabetes mellitus, transient neonatal, 2
• permanent neonatal diabetes mellitus 1
• obesity due to SIM1 deficiency
• obesity due to leptin receptor gene deficiency
• hyperinsulinemic hypoglycemia, familial, 1
• hyperinsulinism due to HNF1A deficiency
• hyperinsulinemic hypoglycemia, familial, 2
• type 1 diabetes mellitus
• pancreatic beta cell agenesis with neonatal diabetes mellitus
• hyperinsulinism due to INSR deficiency