BIN1

Chr 2q14.3

bridging integrator 1

Aliases:: SH3P9, AMPH2
MANE:: ENST00000316724.10

OMIM: 601248 ↗NCBI: 274 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

BIN1 · O00499

v62025-08-01

Predicted Aligned Error matrix for BIN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.7/ 100

Low

593 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)18%
Low(50–70)5%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

myopathy, centronuclear, 2
0.78
autosomal recessive centronuclear myopathy
0.60
Alzheimer disease
0.52
autosomal dominant centronuclear myopathy
0.51
centronuclear myopathy
0.47
dementia
0.43
neurodegenerative disease
0.41
Abnormality of the skeletal system
0.37
Lewy body dementia
0.37
memory impairment
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myc box-dependent-interacting protein 1

Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling (PubMed:24755653). Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production (PubMed:27179792). In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863)