HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BIN1
bridging integrator 1
Chromosome 2 Β· 2q14.3
NCBI Gene: 274Ensembl: ENSG00000136717.16HGNC: HGNC:1052UniProt: B7Z2Z2
249PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IIprotease bindingprotein bindinglipid bindingmyopathy, centronuclear, 2Alzheimer diseasedementiacentronuclear myopathy
✦AI Summary

BIN1 (bridging integrator 1) is a membrane-remodeling protein that plays critical roles in multiple cellular processes relevant to neurodegeneration and muscle function. (a) Primary function: BIN1 regulates plasma membrane curvature and is essential for T-tubule formation in muscle cells, while also controlling endocytosis and intracellular vesicle sorting 1. In microglia, BIN1 serves as a key regulator of proinflammatory responses and neurodegeneration-related activation 2. (b) Mechanism: BIN1 functions through membrane dynamics regulation and exhibits actin bundling activity. Loss of BIN1 impairs microglial type 1 interferon responses and affects the expression of disease-associated genes, particularly Ifitm3 2. BIN1 also modulates BACE1 trafficking and amyloid-beta production 3. (c) Disease relevance: BIN1 represents the second-most significant genetic risk factor for late-onset Alzheimer's disease 2. Multiple genome-wide association studies have consistently identified BIN1 variants as AD risk factors 45. BIN1 polymorphisms show ethnic-specific associations with AD risk and correlate with tau pathology through sTREM2-mediated mechanisms 6. (d) Clinical significance: BIN1 mutations also cause centronuclear myopathy type 2, highlighting its importance in muscle function 7. The protein's dual roles in neuroinflammation and membrane dynamics make it a potential therapeutic target for neurodegenerative diseases.

Sources cited
1
BIN1 is required for T-tubule formation in muscle cells
PMID: 24755653
2
BIN1 is a key regulator of proinflammatory and neurodegeneration-related activation in microglia and represents the second-most significant genetic risk factor for late-onset Alzheimer's disease
PMID: 35526014
3
BIN1 is involved in regulation of BACE1 trafficking and control of amyloid-beta production
PMID: 27179792
4
BIN1 is among the genes associated with AD risk identified through genome-wide association studies
PMID: 24951455
5
BIN1 was identified as a likely causal gene in updated genome-wide AD meta-analysis
PMID: 33589840
6
BIN1 polymorphisms correlate with tau pathology through sTREM2-mediated mechanisms
PMID: 39240638
7
BIN1 mutations cause centronuclear myopathy type 2
PMID: 23975875
Disease Associationsβ“˜21
myopathy, centronuclear, 2Open Targets
0.78Strong
Alzheimer diseaseOpen Targets
0.55Moderate
dementiaOpen Targets
0.49Moderate
centronuclear myopathyOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.40Moderate
Lewy body dementiaOpen Targets
0.40Weak
autosomal recessive centronuclear myopathyOpen Targets
0.38Weak
autosomal dominant centronuclear myopathyOpen Targets
0.37Weak
late-onset Alzheimers diseaseOpen Targets
0.34Weak
hypertensionOpen Targets
0.33Weak
joint diseaseOpen Targets
0.31Weak
bursitisOpen Targets
0.31Weak
smoking initiationOpen Targets
0.31Weak
CachexiaOpen Targets
0.29Weak
mental or behavioural disorderOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
nephrotic syndromeOpen Targets
0.13Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.12Weak
Progressive sensorineural hearing loss - hypertrophic cardiomyopathyOpen Targets
0.12Weak
Myopathy, centronuclear, 2UniProt
Pathogenic Variants8
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)Likely pathogenic
Myopathy, centronuclear, 2
β˜…β˜…β˜†β˜†2023β†’ Residue 145
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)Pathogenic
Myopathy, centronuclear, 2
β˜…β˜…β˜†β˜†2021β†’ Residue 234
NM_139343.3(BIN1):c.166-2_220+3delLikely pathogenic
Myopathy, centronuclear, 2
β˜…β˜†β˜†β˜†2023
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)Likely pathogenic
Myopathy, centronuclear, 2
β˜…β˜†β˜†β˜†2019β†’ Residue 575
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)Pathogenic
Myopathy, centronuclear, 2
β˜…β˜†β˜†β˜†2013β†’ Residue 571
NM_139343.3(BIN1):c.432del (p.Arg145fs)Likely pathogenic
BIN1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 145
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)Pathogenic
Myopathy, centronuclear, 2
β˜†β˜†β˜†β˜†2007β†’ Residue 35
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)Pathogenic
Myopathy, centronuclear, 2
β˜†β˜†β˜†β˜†2007β†’ Residue 151
View on ClinVar β†—
Related Genes
ITSN1Protein interaction100%GRB2Protein interaction100%CLUProtein interaction100%APPProtein interaction100%EPS15Protein interaction100%MYCProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
31%
Liver
26%
Lung
26%
Bone Marrow
8%
Heart
7%
Gene Interaction Network
Click a node to explore
BIN1ITSN1GRB2CLUAPPEPS15MYC
PROTEIN STRUCTURE
Preparing viewer…
PDB2FIC Β· 1.99 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.52–0.82]
RankingsWhere BIN1 stands among ~20K protein-coding genes
  • #1,543of 20,598
    Most Researched249 Β· top 10%
  • #3,027of 5,498
    Most Pathogenic Variants8
  • #6,902of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedBIN1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
PMID: 24951455
Biol Psychiatry Β· 2015
1.00
2
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
PMID: 23975875
Neurology Β· 2013
0.90
3
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
PMID: 33589840
Nat Genet Β· 2021
0.80
4
Brain cell type-specific enhancer-promoter interactome maps and disease
PMID: 31727856
Science Β· 2019
0.70
5
Hypoxia-induced exosomal circPDK1 promotes pancreatic cancer glycolysis via c-myc activation by modulating miR-628-3p/BPTF axis and degrading BIN1.
PMID: 36068586
J Hematol Oncol Β· 2022
0.68