BIN1 Gene

Name	bridging integrator 1
Description	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
Summary	{"type": "root", "children": [{"type": "t", "text": "<head>\n <meta charset=\"UTF-8\">\n <title>BIN1 Functional Summary</title>\n </head>\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n BIN1, also known as amphiphysin 2, is a multifunctional protein that plays critical roles in a wide range of cellular processes across the nervous system, cancer biology, muscle physiology, and membrane trafficking. In the context of Alzheimer’s disease, multiple genome‐wide association and epigenetic studies have consistently implicated BIN1 as a major susceptibility gene. Altered BIN1 expression and differential DNA methylation at its genomic locus are associated with amyloid and tau pathology, suggesting that BIN1 may modulate neuroinflammation, calcium homeostasis, and apoptotic pathways."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In cancer, BIN1 functions as a tumor suppressor through its interaction with oncogenic MYC; however, aberrant alternative splicing—modulated by splicing regulators such as SF2/ASF—can generate BIN1 isoforms that lose tumor‐suppressive activity and thereby facilitate malignant transformation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In muscle cells and cardiomyocytes, BIN1 is essential for the biogenesis and proper organization of transverse tubules (T-tubules), specialized membrane invaginations required for excitation–contraction coupling. Mutations or misregulated splicing of BIN1 are linked to centronuclear myopathy and myotonic dystrophy, where disruption of T-tubule formation leads to impaired muscle function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Additionally, BIN1 contributes to endocytic membrane remodeling by virtue of its BAR domain, which promotes membrane curvature and tubulation. This function facilitates endocytic recycling by cooperating with proteins such as dynamin and other BAR domain–containing factors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, the diverse roles of BIN1 in mediating neurodegenerative processes, tumor suppression, muscle membrane organization, and membrane trafficking underscore its importance as a multifunctional regulator and highlight its potential as a therapeutic target in multiple diseases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Adam C Naj, Gyungah Jun, Gary W Beecham, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.801"}], "href": "https://doi.org/10.1038/ng.801"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21460841"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21460841"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Philip L De Jager, Gyan Srivastava, Katie Lunnon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn.3786"}], "href": "https://doi.org/10.1038/nn.3786"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25129075"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25129075"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Caroline Van Cauwenberghe, Christine Van Broeckhoven, Kristel Sleegers "}, {"type": "b", "children": [{"type": "t", "text": "The genetic landscape of Alzheimer disease: clinical implications and perspectives."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2015.117"}], "href": "https://doi.org/10.1038/gim.2015.117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26312828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26312828"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "D Sakamuro, K J Elliott, R Wechsler-Reya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BIN1 is a novel MYC-interacting protein with features of a tumour suppressor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (1996)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng0996-69"}], "href": "https://doi.org/10.1038/ng0996-69"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "8782822"}], "href": "https://pubmed.ncbi.nlm.nih.gov/8782822"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rotem Karni, Elisa de Stanchina, Scott W Lowe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The gene encoding the splicing factor SF2/ASF is a proto-oncogene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Mol Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nsmb1209"}], "href": "https://doi.org/10.1038/nsmb1209"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17310252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17310252"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Eunkyung Lee, Melissa Marcucci, Laurie Daniell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1071362"}], "href": "https://doi.org/10.1126/science.1071362"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12183633"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12183633"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2086"}], "href": "https://doi.org/10.1038/ng2086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17676042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17676042"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "TingTing Hong, Huanghe Yang, Shan-Shan Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.3543"}], "href": "https://doi.org/10.1038/nm.3543"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24836577"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24836577"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Saumya Pant, Mahak Sharma, Kruti Patel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb1986"}], "href": "https://doi.org/10.1038/ncb1986"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19915558"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19915558"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Meng-Shan Tan, Jin-Tai Yu, Lan Tan "}, {"type": "b", "children": [{"type": "t", "text": "Bridging integrator 1 (BIN1): form, function, and Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trends Mol Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molmed.2013.06.004"}], "href": "https://doi.org/10.1016/j.molmed.2013.06.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23871436"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23871436"}]}]}]}
Synonyms	AMPHL, SH3P9, CNM2, AMPH2
Proteins	BIN1_HUMAN
NCBI Gene ID	274
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BIN1 has 11,022 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 138 datasets.

Click the + buttons to view associations for BIN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BIN1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BIN1 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 BIN1 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 BIN1 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 BIN1 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 BIN1 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 BIN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving BIN1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BIN1 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 BIN1 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 BIN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BIN1 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 BIN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BIN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with BIN1 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 BIN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BIN1 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 BIN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with BIN1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with BIN1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing BIN1 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 BIN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BIN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BIN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BIN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BIN1 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 BIN1 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 BIN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BIN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BIN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BIN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with BIN1 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 BIN1 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 BIN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving BIN1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving BIN1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with BIN1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with BIN1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BIN1 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 BIN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.