BIN1 |
- 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:
- myopathy, centronuclear, 2 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)