NEB

Description		nebulin
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GO Annotations	Cellular Component	Cytosol Actin Cytoskeleton Z Disc Extracellular Exosome
	Molecular Function	Protein Binding Structural Constituent Of Muscle Actin Filament Binding
	Biological Process	Muscle Organ Development Somatic Muscle Development Muscle Filament Sliding Regulation Of Actin Filament Length Muscle Fiber Development Cardiac Muscle Thin Filament Assembly
Pathways		Striated Muscle Contraction
Drugs
Diseases		Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Nemaline myopathy
GWAS		Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) ( 27114598) Creatine kinase levels ( 29403010) Estimated glomerular filtration rate ( 31152163 31451708) Letter-number span reordering ( 31596458) Rapid automised naming of letters ( 30741946) Response to cognitive-behavioural therapy in anxiety disorder ( 26989097) Squamous cell lung carcinoma ( 28604730)
Interacting Genes		18 interacting genes: ABI1 ACTG2 ACTN4 APC CALM1 DES KLHL41 MTDH MYPN TMOD1 TMOD4 TPM1 TPM2 TRIM55 TRIM63 TTN XIRP1 XIRP2
Entrez ID		4703
HPRD ID		01196
Ensembl ID		ENSG00000183091
Uniprot IDs		P20929 Q05C45 Q96MF8
PDB IDs		1ARK 1NEB
Enriched GO Terms of Interacting Partners?
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