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BIN1 (bridging integrator 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
274
Gene nameGene Name - the full gene name approved by the HGNC.
Bridging integrator 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BIN1
SynonymsGene synonyms aliases
AMPH2, AMPHL, CNM2, SH3P9
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs61748155 C>A,G,T Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, synonymous variant
rs121909273 C>A Pathogenic Coding sequence variant, missense variant
rs121909274 C>T Pathogenic Coding sequence variant, missense variant
rs121909275 T>A Likely-pathogenic Stop gained, coding sequence variant
rs267606681 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018686 hsa-miR-335-5p Microarray 18185580
MIRT756005 hsa-miR-200a-3p Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC) 35149697
MIRT821499 hsa-miR-1254 CLIP-seq
MIRT821500 hsa-miR-1305 CLIP-seq
MIRT821501 hsa-miR-296-5p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 27179792
GO:0005515 Function Protein binding IPI 10903846, 12604805, 12668730, 16275660, 16530520, 17676042, 18647389, 18985028, 19004523, 23399914, 23917616, 24169621, 26506308, 31413325
GO:0005543 Function Phospholipid binding IBA 21873635
GO:0005634 Component Nucleus IDA 25051234
GO:0005635 Component Nuclear envelope IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00499
Protein name Myc box-dependent-interacting protein 1 (Amphiphysin II) (Amphiphysin-like protein) (Box-dependent myc-interacting protein 1) (Bridging integrator 1)
Protein 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-contract
PDB 1MUZ , 1MV0 , 1MV3 , 2FIC , 2RMY , 2RND , 5I22
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03114 BAR
18 → 268
BAR domain
 Domain
PF14604 SH3_9
527 → 590
Variant SH3 domain
 Domain
Sequence 
MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTR
LQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVD
QALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEK
AAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVN
TFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPP
DGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILS
LFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLW
EPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGET
AASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQ
LKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP
Sequence length 593
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Endocytosis
Fc gamma R-mediated phagocytosis 		  Clathrin-mediated endocytosis
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 21460841, 22005930, 21460841, 29777097
Centronuclear myopathy Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy, Autosomal dominant centronuclear myopathy rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598, rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs574660186, rs794729338, rs587783752, rs878854372, rs926741242, rs1293675104, rs768407867, rs773598203, rs1555715869, rs781933660, rs1332371891, rs756870293, rs1568454672, rs1600843056, rs866050664, rs2093158866, rs776252106, rs756847750, rs2070649864 17676042
Congenital myopathy with fiber type disproportion Congenital Fiber Type Disproportion rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772, rs2754158, rs727503263, rs797045950, rs886041686, rs1557813850, rs1057518940, rs1060505018, rs1566521710, rs1558081664, rs778603129, rs1475149579 17676042
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease name Disease term dbSNP ID References
Amyotrophy Generalized amyotrophy
Centronuclear myopathy, x-linked X-linked centronuclear myopathy 17676042
Cognitive disorder Mild cognitive disorder 30503753
Congenital clubfoot Congenital clubfoot

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