PACSIN3

Chr 11p11.2

protein kinase C and casein kinase substrate in neurons 3

Aliases:: SDPIII
MANE:: ENST00000298838.11

OMIM: 606513 ↗NCBI: 29763 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PACSIN3 · Q9UKS6

v62025-08-01

Predicted Aligned Error matrix for PACSIN3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.1/ 100

Confident

424 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

thrombophilia
0.25
deep vein thrombosis
0.25
venous thromboembolism
0.25
pulmonary embolism
0.20
heart disorder
0.20
Pulmonary Infarction
0.20
neurodegenerative disease
0.19
skin cancer
0.13
acne
0.10
ulna fracture
0.09

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

Protein function (UniProt)

Protein kinase C and casein kinase substrate in neurons protein 3

Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity)