USH2A

Gene Name		Usher syndrome 2A (autosomal recessive, mild)
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Photoreceptor Inner Segment Stereocilia Ankle Link Complex Basement Membrane Cytoplasm Integral Component Of Membrane Apical Plasma Membrane Photoreceptor Connecting Cilium Stereocilium Bundle Stereocilium Membrane Periciliary Membrane Compartment
	Molecular Function	Protein Binding Collagen Binding Myosin Binding
	Biological Process	Visual Perception Sensory Perception Of Sound Hair Cell Differentiation Photoreceptor Cell Maintenance Maintenance Of Organ Identity Response To Stimulus Sensory Perception Of Light Stimulus Inner Ear Receptor Cell Differentiation
Pathways
Drugs
Diseases
GWAS
Protein-protein Interactions		3 interactors: BRCA1 COL4A3 KRT18
Entrez ID		7399
HPRD ID		09759
Ensembl ID		ENSG00000042781
Uniprot IDs		O75445
PDB IDs
Enriched GO Terms of Interacting Partners?		Cellular Response To Tumor Necrosis Factor Apoptotic Process Programmed Cell Death Response To Tumor Necrosis Factor Cell Death Death Positive Regulation Of Histone H4-K20 Methylation Golgi To Plasma Membrane CFTR Protein Transport Positive Regulation Of Histone H4-K16 Acetylation Positive Regulation Of Histone H3-K9 Acetylation Regulation Of Apoptotic Process Regulation Of Angiogenesis Regulation Of Cell Death Endothelial Cell Apoptotic Process Positive Regulation Of Histone H4 Acetylation Negative Regulation Of Histone H3-K4 Methylation Cellular Response To Indole-3-methanol Apoptotic Signaling Pathway Negative Regulation Of Centriole Replication Dosage Compensation By Inactivation Of X Chromosome Protein K6-linked Ubiquitination Negative Regulation Of Histone H3-K9 Methylation Positive Regulation Of Histone H3-K9 Methylation Dosage Compensation Regulation Of Histone H3-K9 Acetylation Regulation Of Centriole Replication Positive Regulation Of Histone H3-K4 Methylation Regulation Of Histone H4 Acetylation Negative Regulation Of Fatty Acid Biosynthetic Process DNA Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator DNA Damage Response, Signal Transduction Resulting In Transcription Cellular Response To Cytokine Stimulus Negative Regulation Of Histone Methylation Negative Regulation Of Centrosome Duplication Glomerular Basement Membrane Development Regulation Of DNA Methylation Negative Regulation Of Histone Acetylation Positive Regulation Of Histone Acetylation Negative Regulation Of Peptidyl-lysine Acetylation Regulation Of Histone H3-K4 Methylation Hepatocyte Apoptotic Process Negative Regulation Of Protein Acetylation Positive Regulation Of Peptidyl-lysine Acetylation Response To Cytokine Postreplication Repair Positive Regulation Of Protein Acetylation Regulation Of Transcription From RNA Polymerase III Promoter Golgi To Plasma Membrane Protein Transport Negative Regulation Of Fatty Acid Metabolic Process Regulation Of Gene Expression By Genetic Imprinting
Tagcloud ?		aggregated anaplastic atc braf cdkn1b cdkn2c ctnnb1 eif1ax exclusive exome harbored hypermutator landscape mismatch mlh mlh1 mlh3 msh5 msh6 mutational mutually nf1 nf2 nras ontology pik3ca ret unresponsive v600e