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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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APPBP2
amyloid beta precursor protein binding protein 2
Chromosome 17 · 17q23.2
NCBI Gene: 10513Ensembl: ENSG00000062725.11HGNC: HGNC:622UniProt: Q92624
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular transportnucleoplasmubiquitin-like ligase-substrate adaptor activitycytoplasmic vesicle membranenon-small cell lung carcinomainfectionGriscelli diseaseuncombable hair syndrome
✦AI Summary

APPBP2 (amyloid beta precursor protein binding protein 2) functions as a substrate-recognition component of the CRL2(APPBP2) E3 ubiquitin ligase complex, which mediates protein degradation through the DesCEND (destruction via C-end degrons) pathway. The complex recognizes proteins bearing a C-terminal -Arg-Xaa-Xaa-Gly degron motif and targets them for ubiquitination and proteasomal degradation. Key substrates include truncated SELENOV selenoproteins and TSPYL2, a negative regulator of cell proliferation. CRL2(APPBP2)-mediated TSPYL2 degradation downregulates the aging marker P21waf1/cip1, thereby delaying mesenchymal stem cell senescence 1. In cancer pathology, APPBP2 expression is significantly elevated in non-small cell lung cancer (NSCLC) and correlates with enhanced proliferation, migration, and invasion. APPBP2 promotes NSCLC progression through PPM1D and SPOP regulation 2 and modulates gefitinib sensitivity via the miR-873-5p axis 3. In ovarian clear cell adenocarcinomas, 17q21-q24 chr17 gain resulting in APPBP2 overexpression negatively correlates with disease-free and overall survival 4. Similarly, APPBP2 amplification within the 17q23 region associates with aggressive breast cancer phenotypes 5. Additionally, APPBP2 may facilitate intracellular protein transport along microtubules. These findings establish APPBP2 as a potential therapeutic target and prognostic biomarker in multiple malignancies.

Sources cited
1
CRL2(APPBP2) targets TSPYL2 for degradation, downregulates P21waf1/cip1, and delays mesenchymal stem cell senescence
PMID: 38170390
2
APPBP2 is upregulated in NSCLC and promotes cell proliferation, migration, and invasion through PPM1D and SPOP regulation
PMID: 31105033
3
APPBP2 is upregulated in gefitinib-resistant NSCLC and its reduction improves gefitinib sensitivity via the miR-873-5p axis
PMID: 34861803
4
17q21-q24 gain with APPBP2 overexpression in ovarian clear cell adenocarcinomas negatively correlates with disease-free and overall survival
PMID: 12796361
5
APPBP2 is among highly expressed genes in the 17q23 amplicon of breast cancers with poor prognosis
PMID: 11331760
Disease Associationsⓘ20
non-small cell lung carcinomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
Griscelli disease type 3Open Targets
0.04Suggestive
Griscelli syndrome type 3Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Waardenburg syndrome type 2AOpen Targets
0.03Suggestive
hypotrichosis 8Open Targets
0.03Suggestive
isolated familial wooly hair disorderOpen Targets
0.03Suggestive
Woolly hairOpen Targets
0.03Suggestive
Clouston syndromeOpen Targets
0.03Suggestive
Waardenburg syndrome, IIa 2FOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
diffuse large B-cell lymphomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUL2Protein interaction97%ELOBProtein interaction94%PRAMEF6Protein interaction94%APPProtein interaction94%KLHDC10Protein interaction93%PRAMEF15Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Ovary
63%
Heart
51%
Lung
36%
Liver
29%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
APPBP2CUL2ELOBPRAMEF6APPKLHDC10PRAMEF15
PROTEIN STRUCTURE
Preparing viewer…
PDB8JAU · 3.22 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.34]
RankingsWhere APPBP2 stands among ~20K protein-coding genes
  • #8,525of 20,598
    Most Researched52
  • #1,467of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedAPPBP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
circBIRC6 contributes to the development of non-small cell lung cancer via regulating microRNA-217/amyloid beta precursor protein binding protein 2 axis.
PMID: 35191420
Chin Med J (Engl) · 2022
1.00
2
APPBP2 enhances non-small cell lung cancer proliferation and invasiveness through regulating PPM1D and SPOP.
PMID: 31105033
EBioMedicine · 2019
0.90
3
Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer.
PMID: 34861803
J Chemother · 2022
0.80
4
CRL2
PMID: 38170390
Sci China Life Sci · 2024
0.70
5
FOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms.
PMID: 31893575
Cancer Med · 2020
0.60