BIN1 (GeneID: 274) | Homo sapiens
Description: bridging integrator 1 [Source:HGNC Symbol;Acc:HGNC:1052]
Synonyms: AMPH2, SH3P9, AMPHL
Other ID(s): ENSG00000136717, HGNC:1052
Protein Accession Numbers: ENST00000316724, ENST00000393040, NP_001307571, NP_647599, ENST00000352848, NP_001307563, NP_647596, ENST00000346226, ENST00000409400, NP_647593, NP_647601, ENST00000259238, ENST00000376113, NP_001307570, NP_647598, ENST00000351659, NP_001307562, NP_647595, ENST00000316724.5, ENST00000393041, NP_004296, NP_647600, ENST00000357970, NP_001307569, NP_647597, ENST00000348750, NP_001307561, NP_647594
Statistics: ClinVar(203) PTM(24)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000259238 ENST00000316724 ENST00000346226 ENST00000348750 ENST00000351659 ENST00000352848 ENST00000357970 ENST00000376113 ENST00000393040 ENST00000393041 ENST00000409400 NP_001307561 NP_001307562 NP_001307563 NP_001307569 NP_001307570 NP_001307571 You are here now! NP_004296 NP_647593 NP_647594 NP_647595 NP_647596 NP_647597 NP_647598 NP_647599 NP_647600 NP_647601


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF03114 BAR BAR domain 18-268 CL0145 Golgi-transport Homo sapiens
PF14604 SH3_9 Variant SH3 domain 527-590 CL0010 SH3 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Arthrogryposis Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.573 0.621
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Centronuclear myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Congenital myopathy (disorder) N/A 0.573 0.621
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.573 0.621
X-linked centronuclear myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Myopathy, Centronuclear, Autosomal Recessive Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Tubular Aggregate Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Congenital Fiber Type Disproportion Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.573 0.621
Congenital Structural Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Myopathy, Centronuclear, Autosomal Dominant Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Autosomal Recessive Centronuclear Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Autosomal Dominant Myotubular Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.573 0.621
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.573 0.621
NO RESULT FOUND
feedback