SEC23 homolog A, COPII component
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Clefting
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalcraniolenticulosutural dysplasia
vitamin D deficiency
alcohol drinking
male reproductive organ cancer
metabolic syndrome X
anxiety disorder
gastric cancer
vitamin deficiency disorder
colorectal carcinoma
urinary bladder cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein transport protein Sec23A
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity)
SEC23A · Q15436
Mean pLDDT
92.7/ 100
Very high
765 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
