• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BIN1 (HGNC:1052) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
bridging integrator 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
AMPHL
Alias symbols
SH3P9, AMPH2
%HI
41.75(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.78(Read more about gnomAD pLI score)
LOEUF
0.37(Read more about gnomAD LOEUF score)
Cytoband
2q14.3
Genomic Coordinates
GRCh37/hg19: chr2:127805599-127864730 NCBI Ensembl UCSC
GRCh38/hg38: chr2:127048023-127107154 NCBI Ensembl UCSC
MANE Select Transcript
NM_139343.3 ENST00000316724.10 (Read more about MANE Select)
Function
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 ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22614
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)