Version: 8.0.0Date: Tue Jan 28 2025
Gene
BIN1
- Species
- Homo sapiens
- Symbol
- BIN1
- Name
- bridging integrator 1
- Synonyms
- AMPH2
- amphiphysin 2
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including aspartic-type endopeptidase inhibitor activity; cytoskeletal protein binding activity; and enzyme binding activity. Involved in several processes, including T-tubule organization; negative regulation of amyloid precursor protein catabolic process; and positive regulation of astrocyte differentiation. Located in several cellular components, including axon; cytoskeleton; and cytosol. Part of RNA polymerase II transcription repressor complex and lipid tube. Implicated in breast carcinoma; centronuclear myopathy 2; and prostate adenocarcinoma.
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46514
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:127048023...127107288 - (59.27 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.