APPBP2 Gene

Name	amyloid beta precursor protein (cytoplasmic tail) binding protein 2
Description	The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n APPBP2 is emerging as a multifunctional protein with roles in both normal cellular physiology and cancer progression. In the male germline, APPBP2 (also known as PAT1) interacts with factors such as SLY1 and other proteins involved in acrosomal development, suggesting that it may contribute to processes of spermiogenesis by linking cytoskeletal dynamics to nuclear events."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In neural cells, APPBP2—found as a component of vesicular structures near the plasma membrane—regulates early endocytic events and trafficking, thereby influencing the cell surface distribution of key receptors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In several cancers, APPBP2 has been identified as a candidate oncogene. Genomic studies of the 17q23 amplicon in breast cancer have shown that APPBP2 is among the few genes that are highly overexpressed when amplified, thereby potentially contributing to a more aggressive tumor phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Similar observations have been made in ovarian clear cell adenocarcinoma, where the gain of 17q21–q24 correlates with increased APPBP2 expression and poorer patient survival."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In prostate cancer, APPBP2 has been noted as a genomic integration site for xenotropic murine leukemia virus–related virus (XMRV), implicating it in viral interactions that could modulate oncogenic signaling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of non‐small cell lung cancer (NSCLC), functional experiments demonstrate that APPBP2 is upregulated in tumor tissues and that its silencing leads to reduced cell proliferation, migration, and invasion. This effect appears to be mediated, at least in part, via downstream regulators such as PPM1D and SPOP, and it is further modulated by non‐coding RNAs that affect APPBP2 expression and contribute to gefitinib resistance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, additional studies of desmoplastic medulloblastoma have confirmed genomic amplification involving APPBP2 among other 17q23 genes, further emphasizing its potential role in tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings position APPBP2 as a key mediator of intracellular trafficking in normal cells and as an oncogenic driver when overexpressed or amplified, underscoring its relevance as a potential diagnostic biomarker and therapeutic target in multiple cancers.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Louise N Reynard, Julie Cocquet, Paul S Burgoyne "}, {"type": "b", "children": [{"type": "t", "text": "The multi-copy mouse gene Sycp3-like Y-linked (Sly) encodes an abundant spermatid protein that interacts with a histone acetyltransferase and an acrosomal protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Reprod (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1095/biolreprod.108.075382"}], "href": "https://doi.org/10.1095/biolreprod.108.075382"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19176879"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19176879"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Aysegul Dilsizoglu Senol, Lidia Tagliafierro, Lucie Gorisse-Hussonnois, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Protein interacting with Amyloid Precursor Protein tail-1 (PAT1) is involved in early endocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Life Sci (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00018-019-03157-7"}], "href": "https://doi.org/10.1007/s00018-019-03157-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31139847"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31139847"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "O Monni, M Barlund, S Mousses, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.091582298"}], "href": "https://doi.org/10.1073/pnas.091582298"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11331760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11331760"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Akira Hirasawa, Fumiko Saito-Ohara, Jun Inoue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of 17q21-q24 gain in ovarian clear cell adenocarcinomas with poor prognosis and identification of PPM1D and APPBP2 as likely amplification targets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Cancer Res (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12796361"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12796361"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Beihua Dong, Sanggu Kim, Seunghee Hong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An infectious retrovirus susceptible to an IFN antiviral pathway from human prostate tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0610291104"}], "href": "https://doi.org/10.1073/pnas.0610291104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17234809"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17234809"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Huiyuan Gong, Fei Liu, Xiaoyu Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "APPBP2 enhances non-small cell lung cancer proliferation and invasiveness through regulating PPM1D and SPOP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EBioMedicine (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ebiom.2019.05.028"}], "href": "https://doi.org/10.1016/j.ebiom.2019.05.028"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31105033"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31105033"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jun Sheng, Leyi Liu, Ting Dong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Circ_SETD3 regulates gefitinib sensitivity and tumor progression by miR-873-5p-dependent regulation of APPBP2 in non-small cell lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Chemother (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/1120009X.2021.2009991"}], "href": "https://doi.org/10.1080/1120009X.2021.2009991"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34861803"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34861803"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "A Ehrbrecht, U Müller, M Wolter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pathol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/path.1925"}], "href": "https://doi.org/10.1002/path.1925"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16400626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16400626"}]}]}]}
Synonyms	APP-BP2, PAT1, HS.84084
Proteins	APBP2_HUMAN
NCBI Gene ID	10513
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

APPBP2 has 7,621 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 115 datasets.

Click the + buttons to view associations for APPBP2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

APPBP2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by APPBP2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of APPBP2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of APPBP2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of APPBP2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of APPBP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of APPBP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of APPBP2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of APPBP2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of APPBP2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of APPBP2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of APPBP2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of APPBP2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of APPBP2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with APPBP2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of APPBP2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of APPBP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of APPBP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of APPBP2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing APPBP2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of APPBP2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing APPBP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing APPBP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with APPBP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with APPBP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of APPBP2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with APPBP2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with APPBP2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with APPBP2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of APPBP2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by APPBP2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with APPBP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with APPBP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with APPBP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with APPBP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at APPBP2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of APPBP2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of APPBP2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing APPBP2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with APPBP2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with APPBP2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.