SCYL2

Chr 12q23.1

SCY1 like pseudokinase 2

Aliases:: KIAA1360, CVAK104
MANE:: ENST00000360820.7

OMIM: 616365 ↗NCBI: 55681 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SCYL2 · Q6P3W7

v62025-08-01

Predicted Aligned Error matrix for SCYL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.8/ 100

Confident

929 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)27%
Low(50–70)4%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
0.68
hereditary disease
0.42
Neurogenic arthrogryposis multiplex congenita
0.37
neurodegenerative disease
0.29
Helicobacter pylori infectious disease
0.18
Abnormal nasolacrimal system morphology
0.03
secondary malignant neoplasm
0.03
sleep apnea syndrome
0.02
adolescent idiopathic scoliosis
0.02
placenta praevia
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SCY1-like protein 2

Component of the AP2-containing clathrin coat that may regulate clathrin-dependent trafficking at plasma membrane, TGN and endosomal system (Probable). A possible serine/threonine-protein kinase toward the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine has not been confirmed (PubMed:15809293, PubMed:16914521). By regulating the expression of excitatory receptors at synapses, plays an essential role in neuronal function and signaling and in brain development (By similarity)