SPTBN1

Description		spectrin beta, non-erythrocytic 1
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GO Annotations	Cellular Component	Nucleolus Cytoplasm Cytosol Spectrin Postsynaptic Density Spectrin-associated Cytoskeleton Axolemma M Band Cuticular Plate Extracellular Exosome Glutamatergic Synapse
	Molecular Function	RNA Binding Actin Binding Structural Constituent Of Cytoskeleton Protein Binding Calmodulin Binding Phospholipid Binding Ankyrin Binding Protein-containing Complex Binding Cadherin Binding GTPase Binding
	Biological Process	MAPK Cascade Mitotic Cytokinesis ER To Golgi Vesicle-mediated Transport Plasma Membrane Organization Cytoskeleton Organization Common-partner SMAD Protein Phosphorylation Axon Guidance Golgi To Plasma Membrane Protein Transport Actin Filament Capping Regulation Of SMAD Protein Signal Transduction Membrane Assembly Protein Localization To Plasma Membrane Positive Regulation Of Interleukin-2 Secretion Regulation Of Protein Localization To Plasma Membrane Positive Regulation Of Protein Localization To Plasma Membrane
Pathways		Nephrin family interactions NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport
Drugs		Calcium 1D-myo-inositol 1,4,5-trisphosphate
Diseases
GWAS		Bone mineral density (spine) ( 19079262 19801982 18445777) Bone properties (heel) ( 24430505) Bone ultrasound measurement (broadband ultrasound attenuation) ( 28472463) Bone ultrasound measurement (velocity of sound) ( 28472463) Chronic kidney disease ( 31152163) Estimated glomerular filtration rate ( 31152163) Fractures ( 30158200) Heel bone mineral density ( 30598549 28869591) Height ( 31562340) Intraocular pressure ( 29617998 29785010 31959993 30054594 30591961) Lumbar spine bone mineral density ( 29499414 22504420) Lumbar spine bone mineral density (integral) ( 27476799) Lumbar spine bone mineral density (trabecular) ( 27476799) Myopia (pathological) ( 22685421) Pars triangularis volume ( 31530798) Urate levels ( 31578528)
Interacting Genes		47 interacting genes: ACTR1A ANK2 APC ATF7IP CAPN1 CDC5L CEP63 COPB1 CPNE1 CPNE4 CSNK2A1 CTNNA1 EIF3H EPB41 EPB41L3 GOLGA6L10 GRB2 GRIA2 HSPB1 MAPK14 MEF2C NF2 NOP53 PACSIN1 PJA1 PLCB1 PLEKHA5 PRKACA PTEN PYGO1 RINT1 SEPTIN8 SH3BP5 SMAD3 SMAD4 SMAD9 SNCA SPTAN1 SREBF2 STAT1 STXBP1 THAP3 TNIK TRAF3IP1 YWHAG ZNF251 ZNF512B
Entrez ID		6711
HPRD ID		01683
Ensembl ID		ENSG00000115306
Uniprot IDs		B2ZZ89 Q01082
PDB IDs		1AA2 1BKR 3EDV
Enriched GO Terms of Interacting Partners?
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