BIN1 wt Allele

Preferred Label : BIN1 wt Allele;

NCIt synonyms : AMPH2; SH3P9; MGC10367; DKFZp547F068; AMPHL; Bridging Integrator 1 wt Allele;

NCIt definition : Human BIN1 wild-type allele is located in the vicinity of 2q14 and is approximately 60 kb in length. This allele, which encodes Myc box-dependent-interacting protein 1, may be involved in the regulation of both synaptic vesicle endocytosis and cellular differentiation.;

NCIt note : BIN1 is expressed as ten protein isoforms that are products of alternative splicing, and these variants have differential binding to dynamin, synaptojanin, endophilin, and clathrin. Aberrant splice variants expressed in tumor cell lines have also been described.;

GenBank Accession Number : NM_004305;

Details

Origin ID

C52372;

UMLS CUI

C1706887;

OMIM relation
- Bridging integrator 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hepatocellular Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 2: 127581094-127521837 [NCIt concept]
gene_in_chromosomal_location
- 2q14 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Signaling Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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