DFNB31

Gene Name		deafness, autosomal recessive 31
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Gene Ontology Annotations	Cellular Component	Stereocilia Ankle Link Complex Cytoplasm Actin Filament Growth Cone Photoreceptor Connecting Cilium Stereocilium Periciliary Membrane Compartment
	Molecular Function	Protein Binding
	Biological Process	Retina Homeostasis Sensory Perception Of Sound Positive Regulation Of Gene Expression Sensory Perception Of Light Stimulus Inner Ear Receptor Stereocilium Organization
Pathways
Drugs
Diseases
GWAS		Obesity-related traits ( 23251661)
Protein-protein Interactions		5 interactors: CASK LRP4 LRRC4C MYO15A MYO7A
Entrez ID		25861
HPRD ID		09718
Ensembl ID		ENSG00000095397
Uniprot IDs		B9EGE6 Q9P202
PDB IDs		1UEZ 1UF1 1UFX
Enriched GO Terms of Interacting Partners?		Inner Ear Morphogenesis System Development Embryonic Morphogenesis Ear Morphogenesis Multicellular Organismal Development Anatomical Structure Development Synaptic Growth At Neuromuscular Junction Positive Regulation Of Presynaptic Membrane Organization Sensory Perception Of Sound Regulation Of Axonogenesis Sensory Perception Of Mechanical Stimulus Inner Ear Development Developmental Process Organ Morphogenesis Ear Development Regulation Of Presynaptic Membrane Organization Embryo Development Organ Development Epidermis Development Postsynaptic Membrane Assembly Equilibrioception Presynaptic Membrane Assembly Post-embryonic Organ Morphogenesis Embryonic Organ Morphogenesis Auditory Receptor Cell Stereocilium Organization Presynaptic Membrane Organization Skeletal Muscle Acetylcholine-gated Channel Clustering Extracellular Matrix Organization Extracellular Structure Organization Negative Regulation Of Keratinocyte Proliferation Regulation Of Neuron Projection Development Generation Of Neurons Auditory Receptor Cell Morphogenesis Phagolysosome Assembly Positive Regulation Of Calcium Ion Import Neurogenesis Protein Heterotetramerization Auditory Receptor Cell Development Regulation Of Cell Morphogenesis Regulation Of Cell Projection Organization Embryonic Organ Development Inner Ear Receptor Stereocilium Organization Regulation Of Keratinocyte Proliferation Membrane Assembly Regulation Of Calcium Ion Import Regulation Of Neuron Differentiation Membrane Biogenesis Cell Morphogenesis Involved In Neuron Differentiation Sensory Organ Development Postsynaptic Membrane Organization
Tagcloud ?		blindness cytoskeletal deaf drosophila dsychronic dysc electrophysiological enlarged expand larvae larval misshapen neuromuscular neurotransmission neurotransmitter pdz potassium presynaptically scaffold slo slowpoke synapse synapses synaptic uncover usher whirlin zone zones