trafficking protein particle complex subunit 2
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Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesSkeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLimb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesMultiple Epiphyseal Dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesspondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia tarda, X-linked
hereditary disease
hereditary spastic paraplegia 4
Autosomal dominant spastic paraplegia type 4
connective tissue disorder
neurodegenerative disease
retinoschisis
Fuchs endothelial corneal dystrophy
Leber congenital amaurosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Trafficking protein particle complex subunit 2
Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi
TRAPPC2 · P0DI81
Mean pLDDT
92.1/ 100
Very high
140 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
