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Gene : BIN1 Homo sapiens

Name  ? bridging integrator 1 Cytological Location  2q14.3
Brief Description  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]
  • synonyms:
  • SH3P9,
  • CNM2,
  • AMPHL,
  • amphiphysin II,
  • AMPH2,
  • uc002tns.3,
  • AMPH2,
  • SH3P9,
  • NM_139343,
  • U68485,
  • OTTHUMG00000131465,
  • HGNC:1052,
  • BIN1,
  • AMPHL
  • identifiers:
  • 274,
  • ENSG00000136717,
  • BIN1

Genome feature

Region: gene ? Length: 59132  
Location: 2:127048023-127107154 reverse strand Cyto location: 2q14.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results