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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PACS2
phosphofurin acidic cluster sorting protein 2
Chromosome 14 · 14q32.33
NCBI Gene: 23241Ensembl: ENSG00000179364.16HGNC: HGNC:23794UniProt: Q86VP3
42PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
autophagosome assemblyprotein localization to phagophore assembly siteprotein bindingprotein localization to plasma membranedevelopmental and epileptic encephalopathy, 66genetic developmental and epileptic encephalopathySeizureIntellectual disability
✦AI Summary

PACS2 is a multifunctional sorting protein that serves as a critical regulator of mitochondria-associated endoplasmic reticulum membranes (MAMs), dynamic coupling regions between the mitochondrial outer membrane and ER 1. Its primary function involves controlling ER-mitochondria communication, maintaining ER homeostasis, and regulating mitochondrial dynamics and mitophagy 2. PACS2 facilitates MAM formation by tethering mitochondria to the ER and mediates mitophagy by binding to BECN1 and promoting its relocalization to MAM sites to facilitate mitophagosome formation 3. Mechanistically, PACS2 regulates calcium signaling and lipid metabolism at MAMs while preventing excessive mitochondrial fission by blocking DRP1 recruitment 3. Under ER stress, PACS2 levels are modulated by TRPV1 interaction, and PACS2-TRPV1 axis restoration protects against epithelial apoptosis 4. PACS2 also initiates foam cell formation through ROS-PPARγ-CD36 signaling, creating a positive feedback loop that drives atherosclerosis progression 5. Clinically, PACS2 dysfunction causes early infantile epileptic encephalopathy (EIEE66), characterized by seizures within the first week of life, cerebellar hypoplasia, and developmental delay 6. Decreased PACS2 expression contributes to diabetic kidney disease pathogenesis through MAM disruption and mitochondrial fragmentation via MAPK1-dependent mechanisms 7, 3. PACS2 represents a therapeutic target in neurodegenerative diseases, obesity-related disorders, and diabetic complications 2.

Sources cited
1
PACS-2 is involved in MAM formation and structure, contributing to diseases including neurodegenerative diseases and diabetic kidney disease
PMID: 35314166
2
PACS2 is mentioned as a key protein in mitophagy regulation and autophagy pathways
PMID: 38361280
3
MAPK1 reduces PACS-2 levels, disrupting MAM and causing mitochondrial fragmentation in diabetic kidney disease; PACS-2 restoration rescues these effects
PMID: 38169625
4
PACS-2 regulates MAM formation, facilitates mitophagy by binding BECN1, and prevents excessive mitochondrial fission in diabetic nephropathy
PMID: 35133431
5
PACS2-TRPV1 axis is required for ER-mitochondrial tethering during ER stress; PACS2 levels influence this process and affect epithelial apoptosis in lung fibrosis
PMID: 35212819
6
PACS2 gene variants cause early infantile epileptic encephalopathy 66 (EIEE66) with seizures in first week of life, cerebellar hypoplasia, and developmental delay
PMID: 34405643
7
PACS2 initiates foam cell formation through ROS-PPARγ-CD36 positive feedback loop, driving atherosclerosis progression
PMID: 40653022
8
PACS-2 is a multifunctional sorting protein and key regulator of MAMs involved in calcium signaling, lipid metabolism, mitochondrial morphology, and autophagy
PMID: 32673704
Disease Associationsⓘ21
developmental and epileptic encephalopathy, 66Open Targets
0.74Strong
genetic developmental and epileptic encephalopathyOpen Targets
0.46Moderate
SeizureOpen Targets
0.45Moderate
Intellectual disabilityOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.42Moderate
developmental and epileptic encephalopathyOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.37Weak
infantile spasmsOpen Targets
0.37Weak
Abnormal cerebellum morphologyOpen Targets
0.37Weak
developmental and epileptic encephalopathy, 1Open Targets
0.37Weak
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.37Weak
Spasticity - intellectual disability - X-linked epilepsyOpen Targets
0.37Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.14Weak
cleft palateOpen Targets
0.12Weak
diabetic nephropathyOpen Targets
0.06Suggestive
hypotrichosis 1Open Targets
0.05Suggestive
lumbar disc degenerationOpen Targets
0.05Suggestive
Developmental and epileptic encephalopathy 66UniProt
Pathogenic Variants2
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)Pathogenic
Intellectual disability|Developmental and epileptic encephalopathy, 66|not provided|Inborn genetic diseases|See cases|Developmental and epileptic encephalopathy, 1|Seizure|PACS2-related disorder
★★☆☆2025→ Residue 209
NM_001100913.3(PACS2):c.623C>G (p.Ser208Cys)Likely pathogenic
not provided
★☆☆☆2023→ Residue 208
View on ClinVar ↗
Related Genes
CANXProtein interaction95%BCAP31Protein interaction95%ITPR3Protein interaction89%WDR37Protein interaction89%HSPA9Protein interaction87%ITPR1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
93%
Heart
75%
Lung
71%
Bone Marrow
61%
Liver
47%
Gene Interaction Network
Click a node to explore
PACS2CANXBCAP31ITPR3WDR37HSPA9ITPR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86VP3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.33Tolerant
Observed/Expected LoF0.41 [0.30–0.56]
RankingsWhere PACS2 stands among ~20K protein-coding genes
  • #9,921of 20,598
    Most Researched42
  • #4,463of 5,498
    Most Pathogenic Variants2
  • #3,649of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedPACS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Potential role of mitochondria-associated endoplasmic reticulum membrane proteins in diseases.
PMID: 35314166
Biochem Pharmacol · 2022
1.00
2
Did mitophagy follow the origin of mitochondria?
PMID: 38361280
Autophagy · 2024
0.90
3
MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.
PMID: 38169625
Int J Biol Sci · 2024
0.80
4
PACS-2 Ameliorates Tubular Injury by Facilitating Endoplasmic Reticulum-Mitochondria Contact and Mitophagy in Diabetic Nephropathy.
PMID: 35133431
Diabetes · 2022
0.70
5
PACS2-TRPV1 axis is required for ER-mitochondrial tethering during ER stress and lung fibrosis.
PMID: 35212819
Cell Mol Life Sci · 2022
0.60