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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SYNJ2BP
synaptojanin 2 binding protein
Chromosome 14 · 14q24.2
NCBI Gene: 55333Ensembl: ENSG00000213463.6HGNC: HGNC:18955UniProt: P57105
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of endothelial cell proliferationregulation of Notch signaling pathwaynegative regulation of endothelial cell migrationHypercholesterolemiaprostate carcinomaneoplasmbreast cancer
✦AI Summary

SYNJ2BP is an outer mitochondrial membrane protein with a cytosolic PDZ domain that regulates cellular homeostasis through multiple interconnected pathways. Mechanistically, SYNJ2BP functions as a scaffolding protein that facilitates mitochondria-associated endoplasmic reticulum membrane (MAM) formation and stability 1. It forms complexes with ER-resident proteins like ESYT1 to maintain mitochondrial-ER contact sites, enabling calcium flux and lipid homeostasis 2. SYNJ2BP also regulates PINK1 mRNA localization at mitochondria through PDZ domain phosphorylation by AMPK, controlling mitochondrial quality control and mitophagy 3. Disease relevance varies by context. In intervertebral disc degeneration, SYNJ2BP loss disrupts MAM formation and mitochondrial zinc homeostasis, promoting cell senescence; restoration improves disc rejuvenation 1. In motor neuron diseases (SBMA and ALS4), elevated SYNJ2BP paradoxically increases pathological mitochondrial-ER contacts and mitochondrial dysfunction 4. In hepatocellular carcinoma, SYNJ2BP functions as a tumor suppressor through DLL4-Notch pathway activation 5, while in breast cancer it paradoxically promotes metastasis via PI3K/AKT signaling and PTEN degradation 6. In clear cell renal carcinoma, SYNJ2BP downregulation correlates with advanced disease, metastasis, and poor survival 7. These findings establish SYNJ2BP as a critical regulator of mitochondrial homeostasis with tissue-specific oncogenic or tumor-suppressive roles.

Sources cited
1
SYNJ2BP loss disrupts MAM formation and mitochondrial Zn2+ homeostasis in intervertebral disc degeneration; overexpression promotes disc rejuvenation
PMID: 38158052
2
SYNJ2BP forms a complex with ESYT1 at mitochondria-ER contact sites and is required for mitochondrial calcium flux and lipid homeostasis
PMID: 37931956
3
AMPK phosphorylates SYNJ2BP's PDZ domain to regulate PINK1 mRNA localization at mitochondria, controlling mitophagy under metabolic control
PMID: 38504131
4
SYNJ2BP expression is elevated in motor neuron diseases and increases pathological mitochondrial-ER contacts and mitochondrial dysfunction
PMID: 35907632
5
SYNJ2BP acts as tumor suppressor in hepatocellular carcinoma by inhibiting cell invasion, migration, and growth through DLL4-Notch pathway activation
PMID: 27440153
6
SYNJ2BP promotes breast cancer metastasis by degrading PTEN via lysosome pathway and activating PI3K/AKT/SNAI1 signaling
PMID: 29163781
7
SYNJ2BP downregulation in clear cell renal carcinoma correlates with advanced stages, metastasis, poor survival, and treatment resistance
PMID: 41151865
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.28Weak
prostate carcinomaOpen Targets
0.13Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
response to statinOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.03Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.03Suggestive
motor neuron diseaseOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RRBP1Protein interaction99%SYNJ2Protein interaction92%ABITRAMProtein interaction83%ACVR2AProtein interaction82%SYNJ2BP-COX16Protein interaction80%RALAProtein interaction78%
Tissue Expression6 tissues
Heart
100%
Liver
59%
Brain
40%
Lung
34%
Ovary
30%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
SYNJ2BPRRBP1SYNJ2ABITRAMACVR2ASYNJ2BP-COX16RALA
PROTEIN STRUCTURE
Preparing viewer…
PDB2JIK · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.61 [0.38–1.04]
RankingsWhere SYNJ2BP stands among ~20K protein-coding genes
  • #8,502of 20,598
    Most Researched53
  • #10,360of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedSYNJ2BP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SYNJ2BP ameliorates intervertebral disc degeneration by facilitating mitochondria-associated endoplasmic reticulum membrane formation and mitochondrial Zn
PMID: 38158052
Free Radic Biol Med · 2024
1.00
2
Lower
PMID: 41151865
Cancer Genomics Proteomics · 2025
0.90
3
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
PMID: 37931956
Life Sci Alliance · 2024
0.80
4
SUMOylation of SYNJ2BP-COX16 promotes breast cancer progression through DRP1-mediated mitochondrial fission.
PMID: 35998797
Cancer Lett · 2022
0.70
5
Insulin signalling regulates Pink1 mRNA localization via modulation of AMPK activity to support PINK1 function in neurons.
PMID: 38504131
Nat Metab · 2024
0.60