BIN1

bridging integrator 1

2 disorders 1 untyped 1 causative 2q14.3 gene with protein product

HGNC:1052 Monarch NCBI Gene 274 ENSG00000136717 UniProt O00499 OMIM 601248

Previous symbols: AMPHL. Aliases: SH3P9, AMPH2.

Normal function · from ai-gene-review (O00499, commit 79fe13b38970) · AI-generated, not KB evidence

BIN1 encodes amphiphysin II, a BAR/N-BAR and SH3-domain membrane-remodeling adaptor with extensive alternative splicing in brain and skeletal muscle. BIN1 binds phospholipid membranes, senses and generates membrane curvature, promotes lipid tubulation, and organizes membrane domains used in endocytosis, synaptic-vesicle cycling, endosomal sorting, and skeletal-muscle T-tubule formation. Through SH3-domain interactions with endocytic proteins such as dynamin and clathrin/AP2-associated machinery, BIN1 links curved membranes to vesicle trafficking and cytoskeletal organization. Additional context-specific functions include nuclear/MYC-related tumor-suppressor activities, tau and clusterin interactions, and regulation of BACE1 trafficking and amyloid-beta production.

BIN1 uses its N-BAR/BAR domain to bind phospholipid membranes, sense and generate membrane curvature, and drive membrane tubulation. This membrane-remodeling activity underlies T-tubule formation in skeletal muscle and curved membrane intermediates in endocytosis and endosomal trafficking.

molecular function: phospholipid binding · directly involved in: lipid tube assembly; T-tubule organization; endocytosis; regulation of endocytosis; cytoskeleton organization · locations: plasma membrane; T-tubule; endosome; membrane; cytosol

BIN1 acts as an endocytic adaptor through SH3-domain and isoform-specific interactions with dynamin and clathrin/AP2-associated machinery, linking curved membrane domains to synaptic-vesicle cycling, endocytosis, and membrane trafficking.

molecular function: GTPase binding · directly involved in: synaptic vesicle endocytosis; endocytosis; positive regulation of endocytosis; T-tubule organization · locations: synaptic vesicle; extrinsic component of synaptic vesicle membrane; axon initial segment; node of Ranvier; axon

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Centronuclear Myopathy	causative	mechanism: BIN1 amphiphysin-2 dysfunction subtype: BIN1-CNM scoped to subtype: BIN1-CNM
Alzheimer Disease	untyped Risk Factor	scoped to subtype: Late-Onset Alzheimer's Disease

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
centronuclear myopathy MONDO:0018947	AD	Limited 2024-06-10	Centronuclear Myopathy causative
centronuclear myopathy MONDO:0018947	AR	Definitive 2024-06-10	Centronuclear Myopathy causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.