PACS2

Chr 14q32.33

phosphofurin acidic cluster sorting protein 2

Aliases:: KIAA0602
MANE:: ENST00000447393.6

OMIM: 610423 ↗NCBI: 23241 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PACS2 · Q86VP3

v62025-08-01

Predicted Aligned Error matrix for PACS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.3/ 100

Low

889 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)14%
Low(50–70)10%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 66
0.72
Seizure
0.45
Intellectual disability
0.45
hereditary disease
0.42
neurodevelopmental disorder
0.37
Global developmental delay
0.37
genetic developmental and epileptic encephalopathy
0.37
Spasticity - intellectual disability - X-linked epilepsy
0.37
developmental and epileptic encephalopathy, 1
0.37
undetermined early-onset epileptic encephalopathy
0.37

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

Protein function (UniProt)

Phosphofurin acidic cluster sorting protein 2

Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments