C9orf72

Gene Name		chromosome 9 open reading frame 72
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Extracellular Space Nucleus Nucleoplasm Cytoplasm Lysosome Endosome Autophagic Vacuole Actin Cytoskeleton Cytoplasmic Vesicle Intercellular Bridge
	Molecular Function	Protein Binding Rab GTPase Binding
	Biological Process	Endocytosis Autophagy
Pathways
Drugs
Diseases
GWAS		Amyotrophic lateral sclerosis ( 22959728 19734901 20801718) PCA3 expression level ( 23555189)
Protein-protein Interactions		6 interactors: APP CRX EIF2B2 NMI REL SRPK1
Entrez ID		203228
HPRD ID		12975
Ensembl ID		ENSG00000147894
Uniprot IDs		Q96LT7 Q9NUW0
PDB IDs
Enriched GO Terms of Interacting Partners?		Gene Expression Defense Response RNA Metabolic Process Positive Regulation Of Photoreceptor Cell Differentiation Response To Stress Synaptic Growth At Neuromuscular Junction Innate Immune Response Collateral Sprouting In Absence Of Injury Transcription From RNA Polymerase II Promoter Regulation Of Metabolic Process Collateral Sprouting Axon Midline Choice Point Recognition Regulation Of RNA Metabolic Process Nucleobase-containing Compound Metabolic Process Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Transcription From RNA Polymerase II Promoter Reproduction Axon Choice Point Recognition Heterocycle Metabolic Process Cellular Aromatic Compound Metabolic Process Response To Stimulus Regulation Of Gene Expression Regulation Of Translation Regulation Of Nitrogen Compound Metabolic Process Cellular Nitrogen Compound Metabolic Process Neuron Remodeling Sperm Chromatin Condensation Rhythmic Process Immune Response Positive Regulation Of Interleukin-12 Biosynthetic Process Reproductive Process Positive Regulation Of Transcription, DNA-templated Nitrogen Compound Metabolic Process Regulation Of Interleukin-12 Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process MRNA Processing Inflammatory Response Cellular Copper Ion Homeostasis Positive Regulation Of Gene Expression Cell Differentiation Positive Regulation Of Metabolic Process Positive Regulation Of Cellular Biosynthetic Process Posttranscriptional Regulation Of Gene Expression Positive Regulation Of Viral Genome Replication Copper Ion Homeostasis Suckling Behavior Neurogenesis Cellular Macromolecule Biosynthetic Process Cellular Metabolic Process Positive Regulation Of G2/M Transition Of Mitotic Cell Cycle
Tagcloud ?		990a als amyotrophic arg522arg brainstem causative degeneration expansion fatal frequencies fus genetically gly93cys hexanucleotide leu330leu massive motor pathogenic remaining representative silent slavic slovenia slovenian sod1 sporadic synonymous tardbp val14met